日本臨牀　別冊　神経症候群(第2版)II

出版社： 日本臨牀社
発行日： 2014-03-20
分野： 臨床医学：一般  >  雑誌
ISSN： 00471852
雑誌名：
特集： 神経症候群（第2版）II
書籍・雑誌
≪全国送料無料でお届け≫
品切れ

20,520 円(税込)

電子書籍
章別単位で購入
ブラウザ、アプリ閲覧

20,520 円(税込)

購入する

目次

  • 表紙
  • 目次
  • No. 26 神経症候群 I ( 第2版 ) 内容項目一覧
  • No. 28 神経症候群 III ( 第2版 ) 内容項目一覧
  • No. 29 神経症候群 IV ( 第2版 ) 内容項目一覧
  • 序文
  • III 変性疾患
  • 1. 認知症症状を主とする疾患
  • (1) アルツハイマー病
  • 1) 家族性アルツハイマー病
  • 2) 孤発性アルツハイマー病
  • (2) レビー小体型認知症
  • (3) 前頭側頭葉変性症 ( FTLD )
  • 1) 前頭側頭葉変性症 ( FTLD ) 概論
  • 2) タウ遺伝子 ( MAPT ) の変異によるFTLD
  • 3) TDP - 43陽性封入体を有するFTLD
  • 4) FTLD - FUS
  • 5) FTLD - UPS
  • (4) 嗜銀顆粒性認知症
  • (5) 神経原線維変化型老年期認知症
  • (6) 石灰沈着を伴うびまん性神経原線維変化病
  • (7) 軸索スフェロイドをもつ遺伝性びまん性白質脳症
  • 2. 錐体外路系疾患
  • (1) パーキンソニズムを主とする疾患
  • 1) 孤発性パーキンソン病
  • 2) 家族性パーキンソン病
  • (1) 優性遺伝性パーキンソン症候群
  • a. 4番染色体に連鎖する遺伝性パーキンソン病 ( PARK1, PARK4, PARK5 )
  • b. 2番染色体に連鎖する遺伝性パーキンソン病 ( PARK3, PARK11, PARK13 )
  • c. 12番染色体に連鎖する遺伝性パーキンソン病 ( PARK8 )
  • d. 16番染色体に連鎖する遺伝性パーキンソン病 ( PARK17 )
  • e. 3番染色体に連鎖する遺伝性パーキンソン病 ( PARK18 )
  • (2) 劣性遺伝性パーキンソン症候群
  • a. 6番染色体に連鎖する遺伝性パーキンソン病 ( PARK2 )
  • b. 1番染色体に連鎖する遺伝性パーキンソン病 ( PARK6, PARK7, PARK9 ( Kufor - Rakeb症候群 ) , PARK10, PARK16 )
  • c. PARK14, PARK15関連パーキンソニズム
  • 3) パーキンソンプラス症候群
  • (1) 進行性核上性麻痺
  • (2) 大脳皮質基底核変性症 ( CBD, CBS )
  • (3) パーキンソン認知症複合 ( グアム島, 紀伊半島 )
  • 4) その他
  • (1) ゴーシェ病およびその保因者
  • (2) Perry症候群
  • (3) 淡蒼球黒質ルイ体萎縮症
  • 5) 症候性パーキンソニズム
  • (1) 薬剤性パーキンソニズム
  • (2) 中毒性パーキンソニズム
  • (3) 代謝性パーキンソニズム
  • (4) 血管性パーキンソニズム
  • (5) 脳炎後パーキンソニズム
  • (6) 脳腫瘍によるパーキンソニズム
  • (7) 特発性正常圧水頭症
  • (2) 不随意運動を主とする疾患
  • 1) 舞踏運動症候群
  • (1) Huntington病
  • (2) Huntington disease - like syndromes ( HDL )
  • (3) 有棘赤血球舞踏病 ( Chorea - acanthocytosis )
  • (4) McLeod症候群
  • (5) 良性遺伝性舞踏病
  • (6) 糖尿病性舞踏病, 老人性舞踏病
  • (7) Sydenham舞踏病
  • 2) 慢性多発性チック症 ( Gilles de la Tourette症候群 )
  • 3) ジストニア症候群
  • (1) ジストニアの定義と分類
  • (2) ジストニアの発現部位による分類・症候
  • (3) 一次性遺伝性ジストニア
  • a. 一次性捻転ジストニア
  • (a) 全身性ジストニア
  • (b) 局所性 / 分節性ジストニア
  • b. ジストニア - プラス
  • (a) ジストニア - パーキンソニズム
  • a) ドパ反応性ジストニア : DYT5ジストニア
  • b) ドパ反応性ジストニア : 芳香族L - アミノ酸脱炭酸酵素 ( AADC ) 欠損症, セピアプテリン還元酵素 ( SR ) 欠損症, チロシン水酸化酵素 ( TH ) 欠損症, ピルボイル - テトラヒドロプテリン合成酵素 ( PTPS ) 欠損症
  • c) DYT12ジストニア, DYT16ジストニア
  • (b) ミオクローヌス - ジストニア : DYT11ジストニア, DYT15ジストニア
  • c. 発作性ジストニア
  • (a) DYT8ジストニア ( 発作性非運動起源性ジスキネジア1 : PNKD1 ) , DYT20ジストニア ( PNKD2 )
  • (b) DYT10ジストニア ( 反復性もしくは発作性運動起源性ジスキネジア1 : EKD1 or PKD1 ) , DYT19ジストニア ( EKD2 or PKD2 )
  • (c) DYT9ジストニア ( 発作性舞踏アテトーシス・痙性対麻痺 : CSE ) , DYT18ジストニア ( 発作性運動誘発性ジスキネジア : PED )
  • (4) 一次性孤発性ジストニア
  • a. 眼瞼痙攣, 下顎ジストニア, 痙性発声障害
  • b. 痙性斜頸 ( 頸部ジストニア )
  • c. 上肢ジストニア, 下肢ジストニア
  • (5) 二次性ジストニア
  • a. DYT3ジストニア ( X - linked dystonia - parkinsonism : XDP, Lubag症候群 )
  • b. ミトコンドリア病に伴うジストニア ( Leigh脳症やレーバー遺伝性視神経症 : LHON )
  • (6) 職業性ジストニア
  • 4) 脳内鉄沈着を伴う神経変性症
  • (1) Neurodegeneration with brain iron accumulation - 1 ( NBIA1 )
  • (2) 乳児神経軸索ジストロフィー ( NBIA2A ) : Seitelberger disease
  • (3) 神経軸索ジストロフィー ( NBIA2B ) : Karak syndrome
  • (4) 神経フェリチン症
  • (5) Neurodegeneration with brain iron accumulation - 4 ( NBIA4 )
  • (6) セルロプラスミン欠損症 ( 無セルロプラスミン血症 )
  • (7) ムコリピドーシスIV型
  • (8) Static encephalopathy of childhood with neurodegeneration in adulthood ( SENDA )
  • 5) 本態性振戦
  • 6) 脆弱X関連振戦 / 運動失調症候群
  • 3. 脊髄小脳変性症
  • (1) 脊髄小脳変性症の分類
  • (2) 孤発性脊髄小脳変性症
  • 1) 孤発性皮質性小脳萎縮症
  • 2) 多系統萎縮症
  • (3) 常染色体優性遺伝性脊髄小脳失調症
  • 1) ポリグルタミン病
  • (1) Machado - Joseph病 ( SCA3 )
  • (2) Spinocerebellar ataxia type 6 ( SCA6 )
  • (3) 歯状核赤核・淡蒼球ルイ体萎縮症 ( 内藤・小柳病 ) ( DRPLA )
  • (4) その他のポリグルタミン病 ( SCA1, SCA2, SCA7, SCA17 )
  • 2) 非翻訳リピート異常伸長による脊髄小脳変性症
  • (1) 16q - ADCA ( SCA31 )
  • (2) その他の非翻訳リピート異常伸長による脊髄小脳変性症 ( SCA8, SCA10, SCA12, SCA36 )
  • 3) 通常の変異による脊髄小脳変性症 ( SCA5, SCA11, SCA13, SCA14, SCA15, SCA23, SCA27, SCA28, SCA35 )
  • (4) 劣性遺伝性脊髄小脳変性症
  • 1) フリードライヒ失調症
  • 2) 眼球運動失行と低アルブミン血症を伴う早発型失調症
  • 3) セナタキシン欠損症
  • 4) 常染色体劣性遺伝形式の末梢神経障害および小脳失調症 ( SCAN1 )
  • 5) シャルルヴォア・サグネ型劣性遺伝性痙性失調症
  • 6) ビタミンE欠乏を伴う失調症
  • 7) SCAR8 ( ARCA1 )
  • 8) Marinesco - Sjogren症候群
  • 9) 毛細血管拡張性運動失調
  • (5) 遺伝性痙性対麻痺
  • 1) 遺伝性痙性対麻痺概論
  • 2) 遺伝性痙性対麻痺の病理
  • 3) 遺伝性痙性対麻痺の分子遺伝学と遺伝子診断
  • 4) X染色体連鎖性遺伝性痙性対麻痺 ( X - linked HSP )
  • 5) 常染色体劣性遺伝性痙性対麻痺
  • 6) 常染色体優性遺伝性痙性対麻痺
  • (6) 周期性失調症
  • 1) 周期性失調症I型
  • 2) 周期性失調症II型
  • (7) 遺伝性プリオン病 : ゲルストマン・シュトロイスラー・シャインカー病
  • 4. 運動ニューロン疾患
  • (1) 筋萎縮性側索硬化症
  • 1) 孤発性ALS
  • 2) 遺伝性ALS
  • (1) 遺伝性 ( 家族性 ) 筋萎縮性側索硬化症概論
  • (2) ALS1 ( SOD1 )
  • (3) ALS2 ( alsin )
  • (4) ALS6 ( FUS / TLS : fused in sarcoma / translocated in liposarcoma )
  • (5) ALS9 ( angiogenin : ANG )
  • (6) ALS10 ( TARDBP遺伝子変異によるALS )
  • (7) ALS12 ( optineurin )
  • (8) その他の優性遺伝性ALS ( ALS3, ALS7, ALS8, ALS11, ALS14, ALS15, ALS17, ALS18 )
  • (9) その他の若年性ALS ( ALS4, ALS5, ALS16 )
  • 3) グアムと紀伊半島にみられるALS - パーキンソン - 認知症複合
  • 4) Brown - Vialetto - Van Laere症候群
  • (2) ALS類似症候群
  • 1) Hopkins症候群 ( 急性喘息後萎縮症 )
  • 2) ポリオ後症候群
  • (3) 原発性側索硬化症 ( PLS )
  • (4) 脊髄性筋萎縮症
  • 1) 5番染色体性劣性遺伝性脊髄性筋萎縮症
  • (1) 脊髄性筋萎縮症0型
  • (2) 脊髄性筋萎縮症 [ SMA I型 ( infantile acute SMA, Werdnig - Hoffmann病 ) , SMA II型 ( infantile chronic SMA, Dubowitz病 ) ]
  • (3) Kugelberg - Welander病 ( SMA III型 )
  • (4) 成人発症脊髄性筋萎縮症 ( SMA IV型 )
  • 2) 球脊髄性筋萎縮症 ( Kennedy病 ) ( SBMA )
  • 3) Hexosaminidase A欠損 ( Tay - Sachs病 ) 性脊髄性筋萎縮症
  • 4) 良性一側下腿筋萎縮症 ( BMALL )
  • IV 自己免疫性疾患
  • 1. 膠原病に伴う神経障害
  • (1) 全身性エリテマトーデスに伴う神経障害 ( 精神神経ループス )
  • (2) 関節リウマチ, 悪性関節リウマチ
  • (3) 強皮症
  • (4) 皮膚筋炎・多発性筋炎・封入体筋炎
  • (5) リウマチ熱
  • (6) 混合性結合組織病
  • (7) シェーグレン症候群 ( sicca syndrome )
  • (8) ベーチェット病
  • (9) Sweet病
  • (10) サルコイドーシス
  • (11) 若年性特発性関節炎
  • (12) 血管炎症候群
  • 1) 高安動脈炎 ( 高安病, 脈なし病 )
  • 2) 巨細胞性動脈炎 ( 側頭動脈炎 )
  • 3) バージャー病
  • 4) 結節性多発動脈炎
  • 5) 顕微鏡的多発血管炎 ( MPA )
  • 6) 多発血管炎性肉芽腫症 ( Wegener肉芽腫症 )
  • 7) Churg - Strauss症候群 好酸球性多発血管炎性肉芽腫症 アレルギー性肉芽腫性血管炎
  • 8) 川崎病 : 中枢神経系合併症
  • 9) ヘノッホ・シェーンライン紫斑病
  • 10) コーガン症候群
  • 11) Polyangiitis overlap症候群
  • 12) 中枢神経系血管炎
  • 13) 低補体血症性蕁麻疹様血管炎症候群 ( HUVS )
  • 2. その他の炎症性疾患
  • (1) Vogt - 小柳 - 原田病 ( ぶどう膜髄膜脳炎 )
  • (2) 中條 - 西村症候群
  • (3) 肥厚性硬膜炎
  • 1) 肥厚性脳硬膜炎
  • 2) 肥厚性脊髄硬膜炎
  • (4) Tolosa - Hunt症候群 ( Painful ophthalmoplegia )
  • (5) 外眼筋炎 ( 眼窩筋炎 )
  • (6) ( 成人 ) 急性小脳炎
  • (7) Bickerstaff型脳幹脳炎
  • (8) 免疫介在性脳炎
  • 1) 橋本脳症
  • 2) 再発性多発軟骨炎
  • 3) 抗VGKC複合体抗体を伴った辺縁系脳炎
  • 4) Rasmussen脳炎
  • 5) 抗NMDA受容体脳炎
  • 3. 傍腫瘍性神経症候群
  • (1) 傍腫瘍性脳脊髄炎
  • (2) 傍腫瘍性辺縁系脳炎
  • (3) 傍腫瘍性小脳変性症
  • (4) 傍腫瘍性脳幹脳炎
  • (5) 傍腫瘍性オプソクローヌス・ミオクローヌス症候群 ( POMS )
  • (6) 癌関連網膜症
  • (7) 傍腫瘍性壊死性脊髄症
  • (8) 傍腫瘍性運動ニューロン疾患
  • (9) Stiff - person症候群
  • (10) 傍腫瘍性ニューロパチー
  • (11) 悪性腫瘍関連筋炎
  • (12) 重症筋無力症
  • (13) Lambert - Eaton筋無力症候群 ( LEMS )
  • (14) 免疫介在性ニューロミオトニア ( Isaacs症候群 )
  • (15) Morvan症候群
  • V 脱髄性疾患, 遺伝性ニューロパチー
  • 1. 中枢性脱髄疾患
  • (1) 多発性硬化症
  • (2) Balo病 ( 同心円硬化症 )
  • (3) 急性散在性脳脊髄炎 ( ADEM )
  • (4) 視神経脊髄炎
  • (5) アトピー性脊髄炎
  • (6) 横断性脊髄炎
  • 2. 末梢性脱髄疾患
  • (1) 急性炎症性脱髄性多発性ニューロパチー
  • 1) Guillain - Barre症候群 ( GBS )
  • 2) Fisher症候群
  • (2) 慢性型脱髄性ニューロパチー
  • 1) 慢性炎症性脱髄性多発根ニューロパチー
  • 2) 多巣性運動ニューロパチー ( MMN )
  • 3) MAG抗体陽性ニューロパチー
  • 4) Crow - Fukase症候群
  • (3) 急性自律性感覚性ニューロパチー
  • (4) 急性汎自律神経異常症
  • 3. 遺伝性ニューロパチー
  • (1) Charcot - Marie - Tooth病
  • (2) 遺伝性感覚・自律神経ニューロパチー ( HSAN )
  • (3) 遺伝性圧脆弱性ニューロパチー
  • (4) 遺伝性腕神経叢神経障害
  • (5) 巨大軸索ニューロパチー
  • (6) 常染色体劣性遺伝形式の末梢神経障害および小脳失調症 ( SCAN1 ) [ III - 3 - ( 4 ) - 4 ) 394参照 ]
  • (7) 遠位遺伝性運動ニューロパチー
  • (8) 近位筋優位遺伝性運動感覚ニューロパチー ( HMSN - P )
  • (9) 家族性アミロイドポリニューロパチー
  • 索引
  • 奥付

おすすめ商品

この書籍の参考文献

参考文献のリンクは、リンク先の都合等により正しく表示されない場合がありますので、あらかじめご了承下さい。

本参考文献は電子書籍掲載内容を元にしております。

III 変性疾患

P.11 掲載の参考文献
1) Acosta-Baena N, et al : Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease : a retrospective cohort study. Lancet Neurol 10 : 213-220, 2011.
PubMed
2) Bateman RJ, et al : Clinical and biomarker changes in dominantly inherited Alzheimer's disease. N Engl J Med 367 : 795-804, 2012.
PubMed
3) Chavez-Gutierrez L, et al : The mechanism of γ-Secretase dysfunction in familial Alzheimer disease. EMBO J 31 : 2261-2274, 2012.
 
4) Kasuga K, et al : Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease. J Neurol Neurosurg Psychiatry 80 : 1050-1052, 2009.
PubMed
5) Pottier C, et al : High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. Mol Psychiatry 17 : 875-879, 2012.
PubMed
6) Ikeuchi T, et al : Mutational analysis in early-onset familial dementia in the Japanese population. The role of PSEN1 and MAPT R406W mutations. Dement Geriatr Cogn Disord 26 : 43-49, 2008.
PubMed
7) Harms M, et al : C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease ; NIA-LOAD/NCRAD Family Study Consortium. JAMA Neurol 70 : 736-741, 2013.
PubMed
8) Kelley BJ, et al : Alzheimer disease-like phenotype associated with the c. 1 54delA mutation in progranulin. Arch Neurol 67 : 171-177, 2010.
 
9) Kasuga K, et al : Depression and psychiatric symptoms preceding onset of dementia in a family with early-onset Alzheimer disease with a novel PSEN1 mutation. J Neurol 256 : 1351-1353, 2009.
 
10) Ishikawa A, et al : A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease. Ann Neurol 57 : 429-434, 2005.
 
11) Klunk WE, et al : Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees. J Neurosci 27 : 6174-6184, 2007.
PubMed
12) Ryan NS, et al : Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer's disease. Brain 136 : 1399-1414, 2013.
PubMed
13) Jack CR Jr, et al : Hypothetical model of dynamic biomarkers of the Alzheimer's pathological cascade. Lancet Neurol 9 : 119-128, 2010.
 
14) Reiman EM, et al : Brain imaging and fluid biomarker analysis in young adults at genetic risk for autosomal dominant Alzheimer's disease in the presenilin 1 E280A kindred : a case-control study. Lancet Neurol 11 : 1048-1056, 2012.
 
15) Fleisher AS, et al : Florbetapir PET analysis of amyloid-β d eposition in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred : a cross-sectional study. Lancet Neurol 11 : 1057-1065, 2012.
 
P.15 掲載の参考文献
1) McKhann G, et al : Clinical diagnosis of Alzheimer's disease : report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 34 : 939-944, 1984.
 
2) McKhann G, et al : The diagnosis of dementia due to Alzheimer's disease : Recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement 7 : 263-269, 2011.
PubMed
3) Querfurth H, La Ferla F : Alzheimer's disease. N Engl J Med 362 : 329-344, 2010.
 
4) Meguro K, et al : Prevalence of dementia and dementing diseases in Japan. Arch Neurol 59 : 1109-1114, 2002.
PubMed
5) 玉岡晃, 東海林幹夫 : アルツハイマー病. 認知症テキストブック (日本認知症学会編), p 222-251, 中外医学社, 2008.
 
6) Ballard C, et al : Alzheimer's disease. Lancet 377 : 1019-1031, 2011.
PubMed
7) Jack C, et al : Hypothetical model of dynamic biomarkers of the Alzheimer's pathological cascade. Lancet Neurol 9 : 119-128, 2010.
 
8) Reiman E, et al : Fibrillar amyloid-β burden in cognitively normal people at 3 levels of genetic risk for Alzheimer's disease. Proc Natl Acad Sci USA 106 : 6820-6825, 2009.
 
9) 今村徹 : アルツハイマー病, MCI. 認知症-神経心理学的アプローチ (辻省次総編集, 河村満編), p 199-210, 中山書店, 2012.
 
10) 井原涼子, 岩田淳 : アルツハイマー病協会/NIAによる新しい診断ガイドライン. カレントテラピー 30 : 292-298, 2012.
Medical*Online
11) Sperling R, et al : Toward defining the preclinical stages of Alzheimer's disease : Recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement 7 : 280-292, 2011.
PubMed
12) Albert M, et al : The diagnosis of mild cognitive impairment due to Alzheimer's disease : recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement 7 : 270-279, 2011.
PubMed
13) 葛原茂樹 : アルツハイマー病の治療戦略-ワクチン治療の限界と次のステップ. BRAIN and NERVE 62 : 659-666, 2010.
 
14) 田平武 : アルツハイマー病の新規薬物開発の現状. BRAIN and NERVE 62 : 787-796, 2010.
 
15) Todd S, et al : Survival in dementia and predictors of mortality : a review. Int J Geriatr Psychiatry 28 : 1109-1124, 2013.
PubMed
P.20 掲載の参考文献
1) McKeith IG, et al : Consensus guidelines for the clinical and pathological diagnosis of dementia with Lewy bodies (DLB) : report of the consortium on DLB international workshop. Neurology 47 : 1113-1124, 1996.
PubMed
2) Kosaka K, et al : Presenile dementia with Alzheimer-, Pick-and Lewy body changes. Acta Neuropathol 36 : 221-233, 1976.
PubMed
3) Kosaka K : Lewy bodies in cerebral cortex, report of three cases. Acta Neuropathol 42 : 127-134, 1978.
PubMed
4) Kosaka K, Mehraein P : Dementia-Parkinsonism syndrome with numerous Lewy bodies and senile plaques in cerebral cortex. Arch Psychiatr Nervenkr 226 : 241-250, 1979.
PubMed
5) 小阪憲司ほか : Lewy小体病の臨床病理学的研究. 精神経誌 82 : 292-311, 1980.
 
6) Kosaka K, et al : Diffuse type of Lewy body disease. A progressive dementia with numerous cortical Lewy bodies and senile changes of various degree. A new disease? Clin Neuropathol 3 : 185-192, 1984.
PubMed
7) McKeith IG, et al : Diagnosis and management of dementia with Lewy bodies : third report of the DLB Consortium. Neurology 65 : 1863-1872, 2005.
PubMed
8) Lippa CF, et al : DLB and PDD boundary issues : diagnosis, treatment, molecular pathology, and biomarkers. Neurology 68 : 812-818, 2007.
PubMed
9) Kosaka K, et al : Cerebral type of Lewy body disease. Neuropathology 17 : 32-35, 1996.
 
10) Kosaka K : Diffuse Lewy body disease in Japan. J Neurol 237 : 197-204, 1990.
PubMed
11) Polymeropoulos MH, et al : Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science 276 : 2045-2047, 1997.
 
12) Spillantini MG, et al : α-Synuclein in Lewy bodies. Nature 388 : 839-840, 1997.
 
13) Singleton AB, et al : α-Synuclein locus triplication causes Parkinson's disease. Science 302 : 841, 2003.
 
14) Masliah E, et al : Dopaminergic loss and inclusion body formation in α-synuclein mice implications for neurodegenerative disorders. Science 287 : 1265-1269, 2000.
 
15) Mori E, et al : Donepezil for dementia with Lewy bodies : a randomized, placebo-controlled trial. Ann Neurol 72 : 41-52, 2012.
PubMed
P.25 掲載の参考文献
1) 岡本幸市 : 前頭側頭葉変性症の概念成立の経緯と分類. BRAIN and NERVE 61 (11) : 1203-1208, 2009.
 
2) Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups. J Neurol Neurosurg Psychiatry 57 (4) : 416-418, 1994.
PubMed
3) Snowden JS : Fronto-Temporal Lobar Degeneration : Fronto-temporal dementia, progressive aphasia, semantic dementia. Clinical Neurology and Neurosurgery Monographs, Churchill Livingstone, NY, 1996.
 
4) Neumann M, et al : Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314 (5796) : 130-133, 2006.
PubMed
5) McKhann GM, et al : Clinical and pathological diagnosis of frontotemporal dementia. Report of the work group on frontotemporal dementia and Pick's disease. Arch Neurol 58 (11) : 1803-1809, 2001.
PubMed
6) Cairns NJ, et al : Neuropathologic diagnosis and nosologic criteria for frontotemporal lobar degeneration : consensus of the Consortium for Frontotemporl Lobar Degeneration. Acta Neuropathol 114 (1) : 5-22, 2007.
PubMed
7) Mackenzie IR, et al : Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration : consensus recommendations. Acta Neuropathol 117 (1) : 15-18, 2009.
PubMed
8) Cairns NJ, Ghosbal N : FUS : A new actor on the frontotemporal lobar degeneration stage. Neurology 74 (5) : 354-356, 2010.
 
9) 湯浅亮一 : 痴呆を伴う筋萎縮性側索硬化症. 臨床神経 4 : 529-533, 1964.
 
10) Mitsuyama Y, Takamiya S : Presenile dementia with motor neuron disease in Japan. A new disease entity? Arch Neurol 36 (9) : 592-593, 1979.
PubMed
11) Okamoto K, et al : New ubiquitin-positive intraneuronal inclusions in the extra-motor cortices in patients with amyotrophic lateral sclerosis. Neurosci Lett 129 (2) : 233-236, 1991.
PubMed
12) Okamoto K, et al : Ubiquitin-positive intraneuronal inclusions in the extramotor cortices of presenile dementia patients with motor neuron disease. J Neurol 239 (8) : 426-430, 1992.
PubMed
13) Neary D, et al : Frontotemporal lobar degeneration : A consensus on clinical diagnostic criteria. Neurology 51 : 546-554, 1998.
 
14) Rascovsky K, et al : Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 134 (Pt 9) : 2456-2477, 2011.
PubMed
15) Roberson ED, et al : Frontotemporal dementia progresses to death faster than Alzheimer disease. Neurology 65 (5) : 719-725, 2005.
PubMed
P.30 掲載の参考文献
1) Sieben A, et al : The genetics and neuropathology of frontotemporal lobar degeneration. Acta Neuropathol 124 : 353-372, 2012.
PubMed
2) Hutton M, et al : Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393 : 702-705, 1998.
PubMed
3) Poorkaj P, et al : Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 43 : 815-825, 1998.
 
4) http://www.alzforum.org/res/com/mut/tau/table1.asp
 
5) Neumann M, et al : The molecular basis of frontotemporal dementia. Expert Rev Mol Med 11 : e23, 2009.
PubMed
6) Iijima M, et al : A distinct familial presenile dementia with a novel missense mutation in the tau gene. Neuroreport 10 : 497-501, 1999.
PubMed
7) Chaunu MP, et al : Juvenile frontotemporal dementia with parkinsonism associated with tau mutation G389R. J Alzheimers Dis 37 : 769-776, 2013.
PubMed
8) Hayashi S, et al : Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. Ann Neurol 51 : 525-530, 2002.
PubMed
9) 久徳弓子ほか : 健忘症状で気づかれた17番染色体に連鎖したタウ遺伝子変異による家族性前頭側頭型認知症パーキンソニズムの1家系. 臨床神経学 52 : 73-78, 2012.
 
10) Miyamoto K, et al : Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene. Ann Neurol 50 : 117-120, 2001.
PubMed
11) Momeni P, et al : Familial early onset frontotemporal dementia caused by a novel S356T MAPT mutation, initially diagnosed as schizophrenia. Clin Neurol Neurosurg 112 : 917-920, 2010.
PubMed
12) Rovelet-Lecrux A, et al : Frontotemporal dementia phenotype associated with MAPT gene duplication. J Alzheimers Dis 21 : 897-902, 2010.
PubMed
13) Ishizuka T, et al : Familial semantic dementia with P301L mutation in the Tau gene. Dement Geriatr Cogn Disord 31 : 334-340, 2011.
PubMed
14) Bessi V, et al : Semantic dementia associated with mutation V363I in the tau gene. J Neurol Sci 296 : 112-114, 2010.
 
15) Villa C, et al : A novel MAPT mutation associated with the clinical phenotype of progressive nonfluent aphasia. J Alzheimers Dis 26 : 19-26, 2011.
 
16) Munoz DG, et al : Progressive nonfluent aphasia associated with a new mutation V363I in tau gene. Am J Alzheimers Dis Other Demen 22 : 294-299, 2007.
PubMed
17) Rohrer JD, et al : Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome. Neurodegener Dis 8 : 149-152, 2011.
 
18) Ogaki K, et al : Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS. Parkinsonism Relat Disord 19 : 15-20, 2013.
 
19) Rossi G, et al : The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome. Mov Disord 23 : 892-895, 2008.
PubMed
20) Kovacs GG, et al : MAPT S305I mutation : implications for argyrophilic grain disease. Acta Neuropathol 116 : 103-118, 2008.
PubMed
P.35 掲載の参考文献
1) Arai T, et al : TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 351 : 602-611, 2006.
 
2) 横田修ほか : Pick病と前頭側頭葉変性症-臨床病理研究の新しい時代. 精神医学 52 : 738-754, 2010.
 
3) Hasegawa M, et al : Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Ann Neurol 64 : 60-70, 2008.
PubMed
4) Cairns NJ, et al : Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration : consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol 114 : 5-22, 2007.
PubMed
5) Mackenzie IR, et al : A harmonized classification system for FTLD-TDP pathology. Acta Neuropathol 122 : 111-113, 2011.
PubMed
6) Yokota O, et al : Clinicopathological characterization of Pick's disease versus frontotemporal lobar degeneration with ubiquitin/TDP-43-positive inclusions. Acta Neuropathol 117 : 429-444, 2009.
PubMed
7) 武田直也ほか : 認知症の神経病理学. 老年精医誌 21 : 743-754, 2011.
 
8) Snowden J, et al : Frontotemporal lobar degeneration : clinical and pathological relationships. Acta Neuropathol 114 : 31-38, 2007.
PubMed
9) Josephs KA, et al : Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations. J Neuropathol Exp Neurol 66 : 142-151, 2007.
PubMed
10) Pickering-Brown SM, et al : Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort : comparison with patients with MAPT and no known mutations. Brain 131 : 721-731, 2008.
PubMed
11) Snowden JS, et al : Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain 135 : 693-708, 2012.
PubMed
12) Neary D, et al : Frontotemporal lobar degeneration : a consensus on clinical diagnostic criteria. Neurology 51 : 1546-1554, 1998.
PubMed
13) Nagao S, et al : Progressive supranuclear palsy presenting as primary lateral sclerosis but lacking parkinsonism, gaze palsy, aphasia, or dementia. J Neurol Sci 323 : 147-153, 2012.
PubMed
14) Foulds P, et al : TDP-43 protein in plasma may index TDP-43 brain pathology in Alzheimer's disease and frontotemporal lobar degeneration. Acta Neuropathol 116 : 141-146, 2008.
PubMed
15) Yokota O, et al : Effects of group-home care on behavioral symptoms, quality of life, and psychotropic drug use in patients with frontotemporal dementia. J Am Med Dir Assoc 7 : 335-337, 2006.
PubMed
P.41 掲載の参考文献
1) Neumann M, et al : A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain 132 : 2922-2931, 2009.
 
2) Neumann M, et al : Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease. Acta Neuropathol 118 : 605-616, 2009.
PubMed
3) Munoz DG, et al : FUS pathology in basophilic inclusion body disease. Acta Neuropathol 118 : 617-627, 2009.
PubMed
4) Dormann D, et al : ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import. EMBO J 29 : 2841-2857, 2010.
PubMed
5) Dormann D, et al : Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS. EMBO J 31 : 4258-4275, 2012.
PubMed
6) Neumann M, et al : Transportin 1 accumulates specifically with FET proteins but no other transportin cargos in FTLD-FUS and is absent in FUS inclusions in ALS with FUS mutations. Acta Neuropathol 124 : 705-716, 2012.
PubMed
7) Josephs KA, et al : Neuropathological background of phenotypical variability in frontotemporal dementia. Acta Neuropathol 122 : 137-153, 2011.
PubMed
8) Rascovsky K, et al : Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 134 : 2456-2477, 2011.
PubMed
9) Aoki N, et al : Progressive nonfluent aphasia : a rare clinical subtype of FTLD-TDP in Japan. Neuropathology 32 : 272-279, 2012.
PubMed
10) Halliday G, et al : Mechanisms of disease in frontotemporal lobar degeneration : gain of function versus loss of function effects. Acta Neuropathol 124 : 373-382, 2012.
PubMed
11) Snowden JS, et al : The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene. Acta Neuropathol 122 : 99-110, 2011.
 
12) Mackenzie IR, et al : Distinct pathological subtypes of FTLD-FUS. Acta Neuropathol 121 : 207-218, 2011.
PubMed
13) Kobayashi Z, et al : Atypical FTLD-FUS associated with ALS-TDP : a case report. Neuropathology 33 : 83-86, 2013.
PubMed
14) Mackenzie IR, et al : Atypical frontotemporal lobar degeneration with ubiquitin-positive, TDP-43-negative neuronal inclusions. Brain 131 : 1282-1293, 2008.
PubMed
15) Kobayashi Z, et al : Pathological features of FTLD-FUS in a Japanese population : Analyses of nine cases. J Neurol Sci 335 (1-2) : 89-95, 2013.
 
P.44 掲載の参考文献
1) Cairns NJ, et al : Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration : consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol 114 : 5-22, 2007.
PubMed
2) Hiji M, et al : White matter lesions in the brain with frontotemporal lobar degeneration with motor neuron disease : TDP-43-immunopositive inclusions co-localize with p62, but not ubiquitin. Acta Neuropathol 116 : 183-191, 2008.
 
3) Mackenzie IR, et al : Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration : consensus recommendations. Acta Neuropathol 117 : 15-18, 2009.
PubMed
4) Mackenzie IR, et al : Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration : an update. Acta Neuropathol 119 : 1-4, 2010.
PubMed
5) Urwin H, et al : FUS pathology defines the majority of tau-and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol 120 : 33-41, 2010.
PubMed
6) Gydesen S, et al : Neuropsychiatric studies in a family with presenile dementia different from Alzheimer and Pick disease. Acta Psychiatr Scand 76 : 276-284, 1987.
 
7) Brown J, et al : Familial non-specific dementia maps to chromosome 3. Hum Mol Genet 4 : 1625-1628, 1995.
PubMed
8) Skibinski G, et al : Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nature Genet 37 : 806-808, 2005.
PubMed
9) Momeni P, et al : Genetic variability in CHMP2B and frontotemporal dementia. Neurodegener Dis 3 : 129-133, 2006.
PubMed
10) Ghazi-Noori S, et al : Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice. Brain 135 : 819-832, 2012.
PubMed
11) Yamazaki Y, et al : Granulovacuolar degenerations appear in relation to hippocampal phosphorylated tau accumulation in various neurodegenerative disorders. PLoS One 6 : e26996, 2011.
PubMed
12) Kurashige T, et al : Localization of CHMP2B-immunoreactivity in the brainstem of Lewy body disease. Neuropathology 33 : 237-245, 2013.
PubMed
13) Holm IE, et al : A reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3. J Neuropathol Exp Neurol 66 : 884-891, 2007.
PubMed
14) Urwin H, et al : Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. Hum Mol Genet 19 : 2228-2238, 2010.
 
15) Stokholm J, et al : Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers : a longitudinal prospective study. J Neurol Neurosurg Psychiatry 84 : 170-176, 2013.
PubMed
16) Filimonenko M, et al : Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease. J Cell Biol 179 (3) : 485-500, 2007.
PubMed
P.50 掲載の参考文献
1) Braak H, Braak E : Argyrophilic grains : characteristic pathology of cerebral cortex in cases of adult onset dementia without Alzheimer changes. Neurosci Lett 76 : 124-127, 1987.
PubMed
2) Tolnay M, et al : Argyrophilic grains of Braak : occurrence in dendrites of neurons containing hyperphosphorylated tau protein. Neuropathol Appl Neurobiol 24 : 53-59, 1998.
PubMed
3) Togo T, et al : Argyrophilic grain disease is a sporadic 4-repeat tauopathy. J Neuropathol Exp Neurol 61 : 547-556, 2002.
 
4) Murayama S, et al : 高齢者ブレインバンクホームページ. [http://www.mci.gr.jp/BrainBank/]
 
5) Saito Y, et al : Severe involvement of the ambient gyrus in a case of dementia with argyrophilic grain disease. J Neurol Sci 196 : 71-75, 2002.
 
6) Saito Y, et al : Staging of argyrophilic grains : an age-associated tauopathy. J Neuropathol Exp Neurol 63 : 911-918, 2004.
PubMed
7) Adachi T, et al : Neuropathological asymmetry in argyrophilic grain disease. J Neuropathol Exp Neurol 69 : 737-744, 2010.
 
P.55 掲載の参考文献
1) Ulrich J, et al : Abundant neurofibrillary tangles without senile plaques in a subset of patients with senile dementia. Neurodegeneration 1 : 257-264, 1992.
 
2) Amano N, et al : Clinicopathological investigations of atypical senile dementia of Alzheimer type. Neuropathology 14 : 127-136, 1994.
 
3) Bancher C, Jellinger KA : Neurofibrillary predominant form of senile dementia of Alzheimer type : a rare subtype in very old subjects. Acta Neuropathol 88 : 565-570, 1994.
PubMed
4) Itoh Y, et al : Dementia characterized by abundant neurofibrillary tangles and scarce senile plaques : a quantitative pathological study. Eur Neurol 36 : 94-97, 1996.
 
5) Yamada M, et al : Dementia of the Alzheimer type and related dementias in the aged : DAT subgroups and senile dementia of the neurofibrillary tangle type. Neuropathology 16 : 89-98, 1996.
 
6) Kosaka K, et al : Limbic neurofibrillary dementia (LNTD). Brain Pathol 7 : 1114, 1997 (Abstract).
 
7) Bancher C, et al : Low prevalence of apolipoprotein E ε4 allele in the neurofibrillary tangle predominant form of senile dementia. Acta Neuropathol 94 : 403-409, 1997.
 
8) Jellinger KA, Bancher C : Senile dementia with tangles (tangle predominant form of senile dementia). Brain Pathol 8 : 367-376, 1998.
PubMed
9) Jellinger KA, et al : Neurofibrillary tangle-predominant dementia : comparison with classical Alzheimer disease. Acta Neuropathol 113 : 107-117, 2007.
PubMed
10) Janocko NJ, et al : Neuropathologically defined subtypes of Alzheimer's disease differ significantly from neurofibrillary tangle-predominant dementia. Acta Neuropathol 124 : 681-692, 2012.
PubMed
11) Matsui Y, et al : Incidence and survival of dementia in a general population of Japanese elderly : the Hisayama study. J Neurol Neurosurg Psychiatry 80 : 366-370, 2009.
 
12) Yamada M, et al : Senile dementia of the neurofibrillary tangle type : a comparison with Alzheimer's disease. Dement Geriat Cog Disord 12 : 117-125, 2001.
 
13) Yamada M : Senile dementia of the neurofibrillary tangle type (tangle only dementia) : neuropathological criteria and clinical guidelines for diagnosis. Neuropathology 23 : 311-317, 2003.
PubMed
14) Ikeda K, et al : A subset of senile dementia with high incidence of the apolipoprotein Eε2 allele. Ann Neurol 41 : 693-695, 1997.
 
15) Santa-Maria I, et al : The MAPT H1 haplotype is associated with tangle-predominant dementia. Acta Neuropathol 124 : 693-704, 2012.
PubMed
16) Yamada M, et al : Aging of the human limbic system : observations of the centenarian brains and analyses of genetic risk factors for the senile changes. Neuropathology 18 : 228-234, 1998.
 
17) Ikeda K, et al : Clinical aspects of "senile dementia of the tangle type" -a subset of dementia in the senium separable from late-onset Alzheimer's disease. Dement Geriat Cogn Disord 10 : 6-11, 1999.
 
18) Takeuchi J, et al : Clinical features of Pittsburgh compound-B-negative dementia. Dement Geriatr Cogn Disord 34 : 112-120, 2012.
PubMed
19) Noguchi M, et al : Decreased β-amyloid peptide42 in cerebrospinal fluid of patients with progressive supranuclear palsy and corticobasal degeneration. J Neurol Sci 237 : 61-65, 2005.
 
20) Cappa A, et al : Brain perfusion abnormalities in Alzheimer's disease : comparison between patients with focal temporal lobe dysfunction and patients with diffuse cognitive impairment. J Neurol Neurosurg Psychiatry 70 : 22-27, 2001.
 
21) Ikeda T, et al : Clinical aspects of argyrophilic grain disease. Clin Neuropathol 19 : 278-284, 2000.
 
22) Togo T, et al : Clinical features of argyrophilic grain disease : a retrospective survey of cases with neuropsychiatric symptoms. Am J Geriatr Psychiatry 13 : 1083-1091, 2005.
PubMed
23) Jicha GA, et al : Argyrophilic grain disease in demented subjects presenting initially with amnestic mild cognitive impairment. J Neuropathol Exp Neurol 65 : 602-609, 2006.
PubMed
24) Steuerwald GM, et al : Clinical characteristics of dementia associated with argyrophilic grain disease. Dement Geriatr Cogn Disord 24 : 229-234, 2007.
PubMed
25) Adachi T, et al : Neuropathological asymmetry in argyrophilic grain disease. J Neuropathol Exp Neurol 69 : 737-744, 2010.
 
P.59 掲載の参考文献
1) Shibayama H, et al : Non-Alzheimer non-Pick dementia with Fahr's syndrome. Clin Neuropathol 11 (5) : 237-250, 1992.
 
2) Kosaka K : Diffuse neurofibrillary tangles with calcification : a new presenile dementia. J Neurol Neurosurg Psychiatry 57 (5) : 594-596, 1994.
PubMed
3) Tsuchiya K, et al : Distribution of cerebral cortical lesions in diffuse neurofibrillary tangles with calcification : a clinicopathological study of four autopsy cases showing prominent parietal lobe involvement. Acta Neuropathol 110 : 57-68, 2005.
PubMed
4) Hishikawa N, et al : Alfa-synuclein-positive structures in association with diffuse neurofibrillary tangles with calcification. Neuropathol Appl Neurobiol 29 : 280-287, 2003.
 
5) Yokota O, et al : NACP/α-synuclein immunoreactivity in diffuse neurofibrillary tangles with calcification (DNTC). Acta Neuropathol 104 : 333-341, 2002.
 
6) Habuchi C, et al : Clinicopathological study of diffuse neurofibrillary tangles with calcification. With special reference to TDP-43 proteinopathy and alpha-synucleinopathy. J Neurol Sci 301 (1-2) : 77-85, 2011.
 
7) Yamada M, et al : High frequency of calcification in basal ganglia on brain computed tomography images in Japanese older adults. Geriatr Gerontol Int 13 (3) : 706-710, 2013.
PubMed
8) Haraguchi T, et al : Diffuse neurofibrillary tangles with calcification (a form of dementia) : X-ray spectrometric evidence of lead accumulation in calcified regions. Neuroreport 12 (6) : 1257-1260, 2001.
PubMed
9) Velakoulis D, et al : Frontotemporal dementia presenting as schizophrenia-like psychosis in young people ; clinicopathological series and review of cases. Br J Psychiatry 194 : 298-305, 2009.
PubMed
10) 羽渕知可子ほか : 石灰沈着を伴うびまん性神経原線維変化病 (DNTC) の言語症状の臨床的特徴. 老年精神医学雑誌 20 (増刊II) : 114, 2009.
 
11) Boyer L, et al : Single-photon emission computed tomography findings in a patient with Fahr disease associated with a schizophrenia-like psychosis. J Clin Psychiatry 74 (5) : e431-432, 2013.
 
12) Modrego PJ, et al : Fahr's syndrome presenting with pure and progressive presenile dementia. Neurol Sci 26 : 367-369, 2005.
 
13) Chen WJ, et al : Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification. Gene 529 (1) : 159-162, 2013.
PubMed
14) Wang C, et al : Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet 44 (3) : 254-256, 2012.
PubMed
P.63 掲載の参考文献
1) Axelsson R, et al : Hereditary diffuse leucoencephalopathy with spheroids. Acta Psychiatr Scand Suppl 314 : 1-65, 1984.
PubMed
2) Rademakers R, et al : Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 44 : 200-205, 2012.
 
3) Kinoshita M, et al : Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R : case report. J Neurol Sci 318 : 115-118, 2012.
PubMed
4) Mitsui J, et al : CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy. Am J Med Genet B Neuropsychiatr Genet 159B : 951-957, 2012.
PubMed
5) Kondo Y, et al : Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R. Intern Med 52 : 503-506, 2013.
 
6) Kleinfeld K, et al : Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia : report of five cases and a new mutation. J Neurol 260 : 558-571, 2013.
 
7) Ahmed R, et al : A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. J Neurol Sci 332 : 141-144, 2013.
 
8) Nicholson AM, et al : CSF1R mutations link POLD and HDLS as a single disease entity. Neurology 80 : 1033-1040, 2013.
PubMed
9) Wang Y, et al : IL-34 is a tissue-restricted ligand of CSF1R required for the development of Langerhans cells and microglia. Nat Immunol 13 : 753-760, 2012.
 
10) Kaifu T, et al : Osteopetrosis and thalamic hypomyelinosis with synaptic degeneration in DAP 12-deficient mice. J Clin Invest 111 : 323-332, 2003.
 
11) Otero K, et al : Macrophage colony-stimulating factor induces the proliferation and survival of macrophages via a pathway involving DAP12 and β-catenin. Nat Immunol 10 : 734-743, 2009.
 
12) McVicar DW, Trinchieri G : CSF-1R, DAP12 and β-catenin : a menage a trios. Nat Immunol 10 : 681-683, 2009.
 
13) Wider C, et al : Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD). A single entity? Neurology 72 : 1953-1959, 2009.
 
14) Sundal C, et al : MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology 79 : 566-574, 2012.
PubMed
15) 小柳清光, 木下通亨 : 白質ジストロフィー, 白質脳症とスフェロイド : HDLSとNasu-Hakola病における観察と考察. 神経内科 78 : 378-387, 2013.
 
P.68 掲載の参考文献
1) Langston JW : The Parkinson's complex : parkinsonism is just the tip of the iceberg. Ann Neurol 59 : 591-596, 2006.
 
2) Braak H, et al : Staging of brain pathology related to sporadic Parkinson's disease. Neurobiol Aging 24 : 197-211, 2003.
PubMed
3) Desplats P, et al : Inclusion formation and neuronal cell death through neuron-to-neuron transmission of alpha-synuclein. Proc Natl Acad Sci USA 106 : 13010-13015, 2009.
PubMed
4) Corti O, Brice A : Mitochondrial quality control turns out to be the principal suspect in parkin and PINK1-related autosomal recessive Parkinson's disease. Curr Opin Neurobiol 23 : 100-108, 2013.
PubMed
5) Bender A, et al : High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet 38 : 515-517, 2006.
PubMed
6) Ramirez A, et al : Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet 38 : 1184-1191, 2006.
PubMed
7) Zimprich A, et al : Mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet 89 : 168-175, 2011.
PubMed
8) Mitsui J, et al : Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol 66 : 571-576, 2009.
PubMed
9) Sawada H, et al : Diagnostic accuracy of cardiac metaiodobenzylguanidine scintigraphy in Parkinson disease. Eur J Neurol 16 : 174-182, 2009.
PubMed
10) パーキンソン病治療ガイドライン 2011, 日本神経学会, 2011.
 
P.72 掲載の参考文献
1) Polymeropoulos MH, et al : Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276 : 2045-2047, 1997.
PubMed
2) Kruger R, et al : Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. (Letter) Nat Genet 18 : 106-108, 1998.
PubMed
3) Zarranz JJ, et al : The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. Ann Neurol 55 : 164-173, 2004.
PubMed
4) Singleton AB, et al : alpha-Synuclein locus triplication causes Parkinson's disease. Science 302 : 841, 2003.
PubMed
5) Sekine T, et al : Clinical course of the first Asian family with Parkinsonism related to SNCA triplication. Mov Disord 25 : 2871-2875, 2010.
PubMed
6) Chartier-Harlin MC, et al : Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 364 : 1167-1169, 2004.
PubMed
7) Nishioka K, et al : Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease. Ann Neurol 59 : 298-309, 2006.
PubMed
8) Leroy E, et al : The ubiquitin pathway in Parkinson's disease. Nature 395 : 451-452, 1998.
PubMed
9) Conway KA, et al : Accelerated in vitro fibril formation by a mutant alpha-synuclein linked to early-onset Parkinson disease. Nat Med 4 : 1318-1320, 1998.
PubMed
10) Kobayashi H, et al : Haploinsufficiency at the alpha-synuclein gene underlies phenotypic severity in familial Parkinson's disease. Brain 126 : 32-42, 2003.
PubMed
11) Spira PJ : Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation. Ann Neurol 49 : 313-319, 2001.
 
12) Seidel K, et al : First appraisal of brain pathology owing to A30P mutant alpha-synuclein. Ann Neurol 67 : 684-689, 2010.
PubMed
13) Farrer M, et al : Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. Ann Neurol 55 : 174-179, 2004.
PubMed
14) Tomiyama H, et al : Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries. Mov Disord 21 : 1102-1108, 2006.
PubMed
15) Lu CS, et al : The parkinsonian phenotype of spinocerebellar ataxia type 2. Arch Neurol 61 : 35-38, 2004.
PubMed
P.76 掲載の参考文献
1) Gasser T, et al : A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat Genet 18 : 262-265, 1998.
 
2) Lautier C, et al : Mutations in the GIGYF (2TNRC15) gene at the PARK11 locus in familial Parkinson disease. Am J Hum Genet 82 : 822-833, 2008.
PubMed
3) Strauss KM, et al : Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum Mol Genet 14 : 2099-2111, 2005.
PubMed
4) Sharma M, et al : The sepiapterin reductase gene region reveals association in the PARK3 locus : analysis of familial and sporadic Parkinson's disease in European populations. J Med Genet 43 : 557-562, 2006.
PubMed
5) Pankratz N, et al : Significant linkage of Parkinson disease to chromosome 2q36-37. Am J Hum Genet 72 : 1053-1057, 2003.
PubMed
6) Bras J, et al : Lack of replication of association between GIGYF2 variants and Parkinson disease. Hum Mol Genet 18 : 341-346, 2009.
PubMed
7) Tan EK, et al : Non-synonymous GIGYF2 variants in Parkinson's disease from two Asian populations. Hum Genet 126 : 425-430, 2009.
PubMed
8) Bogaerts V, et al : Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease. Hum Mutat 29 : 832-840, 2008.
PubMed
9) Kruger R, et al : A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease. Neurobiol Aging 32 : 548.e9-18, 2011.
 
10) Li L, et al : No evidence for pathogenic role of GIGYF2 mutation in Parkinson disease in Japanese patients. Neurosci Lett 479 : 245-248, 2010.
PubMed
11) Higashi S, et al : GIGYF2 is present in endosomal compartments in the mammalian brains and enhances IGF-1-induced ERK1/2 activation. J Neurochem 115 : 423-437, 2010.
PubMed
12) Jones JM, et al : Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice. Nature 425 : 721-727, 2003.
PubMed
13) Martins LM, et al : Neuroprotective role of the Reaper-related serine protease HtrA2/Omi revealed by targeted deletion in mice. Mol Cell Biol 24 : 9848-9862, 2004.
PubMed
14) Wszolek ZK, et al : Neuropathology of two members of a German-American kindred (Family C) with late onset parkinsonism. Acta Neuropathol 103 : 344-350, 2002.
PubMed
15) Denson MA, et al : Familial parkinsonism, dementia, and Lewy body disease : study of family G. Ann Neurol 42 : 638-643, 1997.
 
P.80 掲載の参考文献
1) Nukada H, et al : A big family of paralysis agitans. Rinsho Sinkeigaku 18 : 627-634, 1978.
PubMed
2) Funayama M, et al : A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1. Ann Neurol 51 : 296-301, 2002.
PubMed
3) Paisan-Ruiz C, et al : Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44 : 595-600, 2004.
PubMed
4) Zimprich A, et al : Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomor phic pathology. Neuron 44 : 601-607, 2004.
 
5) Funayama M, et al : An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family. Ann Neurol 57 : 918-921, 2005.
PubMed
6) Tomiyama H, et al : Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries. Mov Disord 21 : 1102-1108, 2006.
PubMed
7) Nichols WC, et al : Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet 365 : 410-412, 2005.
PubMed
8) Di Fonzo A, et al : A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. Lancet 365 : 412-415, 2005.
PubMed
9) Gilks WP, et al : A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet 365 : 415-416, 2005.
PubMed
10) Lesage S, et al : LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. N Engl J Med 354 : 422-423, 2006.
PubMed
11) Kachergus J, et al : Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism : Evidence of a common founder across European populations. Am J Hum Genet 76 : 672-680, 2005.
PubMed
12) Funayama M, et al : Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population. Neuroreport 18 : 273-275, 2007.
 
13) Ross OA, et al : Association of LRRK2 exonic variants with susceptibility to Parkinson's disease : a case-control study. Lancet Neurol 10 : 898-908, 2011.
PubMed
14) 長谷川一子 : PARK8-パーキンソニズムについて. 神経内科 65 : 121-127, 2006.
 
15) Kay DM, et al : Escaping Parkinson's disease : a neurologically healthy octogenarian with the LRRK2 G2019S mutation. Mov Disord 20 : 1077-1078, 2005.
PubMed
P.84 掲載の参考文献
1) Vilarino-Guell C, et al : VPS35 mutations in Parkinson disease. Am J Hum Genet 89 (1) : 162-167, 2011. Note : Erratum : Am J Hum Genet 89 : 347, 2011.
 
2) Zimprich A, et al : A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet 89 (1) : 168-175, 2011.
PubMed
3) Verstraeten A, et al : Contribution of VPS35 genetic variability to LBD in the Flanders-Belgian population. Neurobiol Aging 33 (8) : 1844. e 11-13, 2012.
 
4) Deng H, et al : The VPS35 gene and Parkinson's disease. Mov Disord 28 (5) : 569-575, 2013.
PubMed
5) Sudhaman S, et al : VPS35 and EIF4G1 mutations are rare in Parkinson's disease among Indians. Neurobiol Aging 34 (10) : 2442. e 1-3, 2013.
 
6) Ando M, et al : VPS35 mutation in Japanese patients with typical Parkinson's disease. Mov Disord 27 (11) : 1413-1417, 2012.
PubMed
7) Mouse Genome Informatics. [http://www.informatics.jax.org/]
 
8) Sharma M, et al : A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J Med Genet 49 (11) : 721-726, 2012.
 
9) Wen L, et al : VPS35 haploinsufficiency increases Alzheimer's disease neuropathology. J Cell Biol 195 (5) : 765-779, 2011.
 
10) MacLeod DA, et al : RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk. Neuron 77 (3) : 425-439, 2013.
PubMed
11) Kumar KR, et al : Frequency of the D620N mutation in VPS35 in Parkinson disease. Arch Neurol 691 (10) : 1360-1364, 2012.
 
12) Wider C, et al : Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family. Parkinsonism Relat Disord 14 (6) : 465-470, 2008.
 
P.87 掲載の参考文献
1) Chartier-Harlin MC, et al : Translation initiator EIF4G1 mutations in familial Parkinson disease. Am J Hum Genet 89 (3) : 398-406, 2011.
PubMed
2) Schulte EC, et al : Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease. Neurogenetics 13 (3) : 281-285, 2012.
PubMed
3) Tucci A, et al : Study of the genetic variability in a Parkinson's Disease gene : EIF4G1. Neurosci Lett 518 (1) : 19-22, 2012.
 
4) Lesage S, et al ; French Parkinson's Disease Genetics Study Group : EIF4G1 in familial Parkinson's disease : pathogenic mutations or rare benign variants? Neurobiol Aging 33 (9) : 2233.e1-2233.e5, 2012.
 
5) Zhao Y, et al : Analysis of EIF4G1 in Parkinson's disease among Asians. Neurobiol Aging 34 (4) : 1311.e5-6, 2013.
PubMed
6) Nuytemans K, et al : Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease. Neurology 80 (11) : 982-989, 2013.
PubMed
7) Siitonen A, et al : Mutations in EIF4G1 are not a common cause of Parkinson's disease. Eur J Neurol 20 (4) : e59, 2013.
 
8) Ramirez-Valle F, et al : eIF4GI links nutrient sensing by mTOR to cell proliferation and inhibition of autophagy. J Cell Biol 181 (2) : 293-307, 2008.
PubMed
9) Silvera D, et al : Essential role for eIF4GI overexpression in the pathogenesis of inflammatory breast cancer. Nat Cell Biol 11 (7) : 903-908, 2009.
PubMed
10) Fujioka S, et al : Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia. Acta Neuropathol 125 (3) : 425-438, 2013.
PubMed
P.91 掲載の参考文献
1) Farrer MJ : Genetics of Parkinson disease : paradigm shifts and future prospects. Nat Rev Genet 7 (4) : 306-318, 2006.
PubMed
2) Kitada T, et al : Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392 (6676) : 605-608, 1998.
 
3) Shimura H, et al : Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet 25 (3) : 302-305, 2000.
 
4) Kitada T, et al : Molecular cloning, gene expression, and identification of a splicing variant of the mouse parkin gene. Mamm Genome 11 (6) : 417-421, 2000.
 
5) Corti O, et al : What genetics tells us about the causes and mechanisms of Parkinson's disease. Physiol Rev 91 (4) : 1161-1218, 2011.
PubMed
6) Kay DM, et al : A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2. Neurology 75 (13) : 1189-1194, 2010.
PubMed
7) Lohmann E, et al : How much phenotypic variation can be attributed to parkin genotype? Ann Neurol 54 (2) : 176-185, 2003.
PubMed
8) Doherty KM, et al : Parkin disease : a clinicopathologic entity? JAMA Neurol 70 (5) : 571-579, 2013.
PubMed
9) Farrer M, et al : Lewy bodies and parkinsonism in families with parkin mutations. Ann Neurol 50 (3) : 293-300, 2001.
PubMed
10) Lim KL, Tan JM : Role of the ubiquitin proteasome system in Parkinson's disease. BMC Biochem 8 (Suppl 1) : S13, 2007.
 
11) Cook C, Petrucelli L : A critical evaluation of the ubiquitin-proteasome system in Parkinson's disease. Biochim Biophys Acta 1792 (7) : 664-675, 2009.
PubMed
12) Imai Y, et al : An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin. Cell 105 (7) : 891-902, 2001.
 
13) Park J, et al : Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin. Nature 441 (7097) : 1157-1161, 2006.
PubMed
14) Matsui H, et al : PINK1 and Parkin complementarily protect dopaminergic neurons in vertebrates. Hum Mol Genet 22 (12) : 2423-2434, 2013.
PubMed
15) Imaizumi Y, et al : Mitochondrial dysfunction associated with increased oxidative stress and alpha-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue. Mol Brain 5 : 35, 2012.
PubMed
P.97 掲載の参考文献
1) Valente EM, et al : Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304 : 1158-1160, 2004.
PubMed
2) Hatano Y, et al : Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol 56 : 424-427, 2004.
PubMed
3) Kilarski LL, et al : Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. Mov Disord 27 : 1522-1529, 2012.
PubMed
4) Ibanez P, et al : Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. Brain 129 : 686-694, 2006.
PubMed
5) Gandhi S, et al : PINK1 protein in normal human brain and Parkinson's disease. Brain 129 : 1720-1731, 2006.
PubMed
6) Samaranch L, et al : PINK1-linked parkinsonism is associated with Lewy body pathology. Brain 133 : 1128-1142, 2010.
PubMed
7) Matsuda N, et al : PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy. J Cell Biol 189 : 211-221, 2010.
PubMed
8) Grenier K, et al : Parkin-and PINK1-Dependent Mitophagy in Neurons : Will the Real Pathway Please Stand Up? Front Neurol 4 : 100, 2013.
PubMed
9) Bonifati V, et al : Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299 : 256-259, 2003.
 
10) Annesi G, et al : DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. Ann Neurol 58 : 803-807, 2005.
 
11) Kim KS, et al : DJ-1 Associates with lipid rafts by palmitoylation and regulates lipid rafts-dependent endocytosis in astrocytes. Hum Mol Genet 22 : 4805-4817, 2013.
PubMed
12) Usami Y, et al : DJ-1 associates with synaptic membranes. Neurobiol Dis 43 : 651-662, 2011.
PubMed
13) Hong Z, et al : DJ-1 and alpha-synuclein in human cerebrospinal fluid as biomarkers of Parkinson's disease. Brain 133 : 713-726, 2010.
PubMed
14) Ramirez A, et al : Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet 38 : 1184-1191, 2006.
PubMed
15) Williams DR, et al : Kufor Rakeb disease : autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. Mov Disord 20 : 1264-1271, 2005.
PubMed
16) Bras J, et al : Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet 21 : 2646-2650, 2012.
PubMed
17) Ning YP, et al : PARK9-linked parkinsonism in eastern Asia : mutation detection in ATP13A2 and clinical phenotype. Neurology 70 : 1491-1493, 2008.
PubMed
18) Matsui H, et al : ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons. FEBS Lett 587 : 1316-1325, 2013.
PubMed
19) Hicks AA, et al : A susceptibility gene for late-onset idiopathic Parkinson's disease. Ann Neurol 52 : 549-555, 2002.
PubMed
20) Satake W, et al : Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet 41 : 1303-1307, 2009.
PubMed
P.103 掲載の参考文献
1) Shojaee S, et al : Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays. Am J Hum Genet 82 : 1375-1384, 2008.
PubMed
2) Paisan-Ruiz C, et al : Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 65 : 19-23, 2009.
 
3) Sina F, et al : R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family. Eur J Neurol 16 : 101-104, 2009.
 
4) Yoshino H, et al : Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism. Neurology 75 : 1356-1361, 2010.
PubMed
5) Shi CH, et al : PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort. Neurology 77 : 75-81, 2011.
 
6) Kauther KM, et al : The PLA2G6 gene in early-onset Parkinson's disase. Mov Disord 26 : 2415-2417, 2011.
 
7) Tomiyama H, et al : PLA2G6 variant in Parkinson's disease. J Hum Genet 56 : 401-403, 2011.
PubMed
8) Agarwal P, et al : Imaging striatal dopaminergic function in phospholipase A2 group IV-related parkinsonism. Mov Disord 27 : 1698-1699, 2012.
 
9) Tian JY, et al : Analysis of PLA2G6 gene mutation in sporadic early-onset parkinsonism patients from Chinese population. Neurosci Lett 514 : 156-158, 2012.
PubMed
10) Lu CS, et al : PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet 159B : 183-191, 2012.
PubMed
11) Gui YX, et al : Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease. Parkin Relat Disord 19 : 21-26, 2013.
 
12) Paisan-Ruiz C, et al : Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiol Aging 33 : 814-823, 2012.
PubMed
13) Zhao T, et al : Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15). PLoS One 6 : e16983, 2011.
PubMed
14) Fonzo AD, et al : FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. Neurology 72 : 240-245, 2009.
 
15) Paisan-Ruiz C, et al : Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord 25 : 1791-1800, 2010.
PubMed
P.108 掲載の参考文献
1) Steele JC, et al : Progressive supranuclear palsy. A heterogeneous degeneration involving the brain stem, basal ganglia and cerebellum with vertical gaze and pseudobulbar palsy, nuchal dystonia and dementia. Arch Neurol 10 : 333-359, 1964.
PubMed
2) Kawashima M, et al : Prevalence of progressive supranuclear palsy in Yonago, Japan. Mov Disord 19 : 1239-1240, 2004.
 
3) Litvan I, et al : Natural history of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) and clinical predictors of survival : a clinicopathological study. J Neurol Neurosurg Psychiatry 61 : 615-620, 1996.
 
4) 饗場郁子ほか : 剖検例からみた進行性核上性麻痺臨床像. 特集 進行性核上性麻痺 (PSP)-そのI. 神経内科 56 : 143-149, 2002.
 
5) Hoglinger GU, et al : Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet 43 : 699-705, 2011.
PubMed
6) Litvan I, et al : Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) : report of the NINDS-SPSP international workshop. Neurology 47 : 1-9, 1996.
PubMed
7) Williams DR, et al : Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy : Richardson's syndrome and PSP-parkinsonism. Brain 128 : 1247-1258, 2005.
 
8) Williams DR, et al : Pure akinesia with gait freezing : a third clinical phenotype of progressive supranuclear palsy. Mov Disord 22 : 2235-2241, 2007.
PubMed
9) Tsuboi Y, et al : Increased tau burden in the cortices of progressive supranuclear palsy presenting with corticobasal syndrome. Mov Disord 20 : 982-988, 2005.
PubMed
10) Josephs KA, et al : Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP. Neurology 66 : 41-48, 2006.
PubMed
11) Josephs KA, et al : Atypical progressive supranuclear palsy underlying progressive apraxia of speech and nonfluent aphasia. Neurocase 11 : 283-296, 2005.
PubMed
12) Dickson DW, et al : Neuropathology of variants of progressive supranuclear palsy. Curr Opin Neurol 23 : 394-400, 2010.
PubMed
13) 今井壽正, 楢林博太郎 : アキネジア-純粋アキネジアの2症例を中心として-. 神経研究の進歩 18 : 787-794, 1974.
 
14) Kanazawa M, et al : Cerebellar involvement in progressive supranuclear palsy : A clinicopathological study. Mov Disord 24 : 1312-1318, 2009.
PubMed
15) 饗場郁子ほか : 進行性核上性麻痺の生命予後. 臨床神経 45 : 565-570, 2005.
 
P.113 掲載の参考文献
1) Armstrong MJ, et al : Criteria for the diagnosis of corticobasal degeneration. Neurology 80 : 496-503, 2013.
PubMed
2) 饗場郁子ほか : Corticobasal Syndrome. Brain and Nerve 65 : 5-64, 2013.
 
3) 森松光紀, 根来清 : 症候学-特に暫定臨床診断基準によるCBD症例の全国施設調査. 臨床神経 42 : 1150-1153, 2002.
 
4) 谷口彰ほか : 厚生労働省特定疾患治療研究事業臨床調査個人票の集計結果からみたパーキンソン病患者の現況. 臨床神経 48 : 106-113, 2008.
 
5) Dickson DW, et al : Office of Rare Diseases neuropathologic criteria for corticobasal degeneration. J Neuropathol Exp Neurol 61 : 935-946, 2002.
PubMed
6) Arai T, et al : Identification of amino-terminally cleaved tau fragments that distinguish progressive supranuclear palsy from corticobasal degeneration. Ann Neurol 55 : 72-79, 2004.
PubMed
7) Boeve BF : The multiple phenotypes of corticobasal syndrome and corticobasal degeneration : implications for further study. J Mol Neurosci 45 : 350-353, 2011.
PubMed
P.118 掲載の参考文献
1) Hirano A, et al : Parkinsonism-dementia complex, an endemic disease on the island of Guam. Clinical features. Brain 84 : 642-661, 1961.
PubMed
2) Hirano A, et al : Parkinsonism-dementia complex, an endemic disease on the island of Guam. Pathological features. Brain 84 : 662-679, 1961.
PubMed
3) Kuzuhara S, et al : Familial amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii peninsula of Japan : Clinical and neuropathological study and Tau analysis. Ann Neurol 49 : 501-511, 2001.
PubMed
4) Galasko D, et al : Prevalence of dementia in Chamorros on Guam : relationship to age, gender, education, and APOE. Neurology 68 : 1772-1781, 2007.
PubMed
5) Kimura K, et al : Epidemiological and geomedical studies on ALS and allied diseases in Kii peninsula (Japan). Preliminary report. Proc Jpn Acad 37 : 417-420, 1961.
 
6) Kuzuhara S, Kokubo Y : Amyotrophic lateral sclerosis-parkinsonism-dementia complex in the Kii peninsula of Japan (Muro disease) : a review on recent research and new concept. In : Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias, 1st ed (ed by Strong MJ), p 39-54, Oxford University Press, Oxford, 2012.
 
7) 小久保康昌, 葛原茂樹 : 紀伊半島多発地域の筋萎縮性側索硬化症とパーキンソン認知症複合の臨床神経学的および神経病理学的検討. 臨床神経 41 : 769-774, 2001.
 
8) Kokubo Y, Kuzuhara S : Ophthalmomyiasis-like pigmentary retinopathy in ALS/PDC in the Kii peninsula of Japan. Neurology 60 : 1725-1726, 2003.
PubMed
9) Kokubo Y, Kuzuhara S : Neuroradiological study on amyotrophic lateral sclerosis and parkinsonism-dementia complex in the Kii peninsula of Japan. Arch Neurol 60 : 1257-1261, 2003.
PubMed
10) Kokubo Y, et al : Cardiac 123I-meta-iodobenzylguanidine scintigraphy and lewy body pathology in a patient with amyotrophic lateral sclerosis and parkinsonism-dementia complex of Kii, Japan. Mov Disord 26 : 2300-2301, 2011.
 
11) Kokubo Y, et al : α-Synuclein pathology in the amyotrophic lateral sclerosis/parkinsonism dementia complex in the Kii Peninsula, Japan. J Neuropathol Exp Neurol 7 : 625-630, 2012.
 
12) Hasegawa M, et al : TDP-43 is deposited in the Guam parkinsonism-dementia complex brains. Brain 130 : 1386-1394, 2007.
PubMed
13) Tomiyama H, et al : Mutation analyses in amyotrophic lateral sclerosis/parkinsonism-dementia complex of Kii, Japan. Mov Disord 23 : 2344-2348, 2008.
PubMed
14) Ishiura H, et al : C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. Arch Neurol 69 : 1154-1158, 2012.
PubMed
15) Morimoto S, et al : Increased oxidative stress in patients with amyotrophic lateral sclerosis/parkinsonism-dementia complex in the Kii peninsula, Japan. Mov Disord 24 (1) : 123-126, 2009.
PubMed
P.122 掲載の参考文献
1) Tsuji S, et al : A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N Engl J Med 316 : 570-575, 1987.
 
2) Sidransky E, et al : Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 361 : 1651-1661, 2009.
PubMed
3) Zimran A, et al : High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet 49 : 855-859, 1991.
PubMed
4) Ida H, et al : Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease : identification of four novel mutations. J Inherit Metab Dis 20 : 67-73, 1997.
PubMed
5) Schueler UH, et al : Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells : a model system for assessing neuronal damage in Gaucher disease type 2 and 3. Neurobiol Dis 14 : 595-601, 2003.
 
6) Pelled D, et al : Enhanced calcium release in the acute neuronopathic form of Gaucher disease. Neurobiol Dis 18 : 83-88, 2005.
PubMed
7) Xu YH, et al : Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. Mol Genet Metab 102 : 436-447, 2011.
 
8) Sardi SP, et al : CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy. Proc Natl Acad Sci USA 108 : 12101-12106, 2011.
 
9) Mazzulli JR, et al : Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 146 : 37-52, 2011.
 
10) Mitsui J, et al : Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol 66 : 571-576, 2009.
PubMed
11) Barton NW, et al : Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 324 : 1464-1470, 1991.
 
12) Larsen SD, et al : Property-based design of a glucosylceramide synthase inhibitor that reduces glucosylceramide in the brain. J Lipid Res 53 : 282-291, 2012.
 
13) Luan Z, et al : Chaperone activity of bicyclic nojirimycin analogues for Gaucher mutations in comparison with N-(n-nonyl) deoxynojirimycin. Chembiochem 10 : 2780-2792, 2009.
 
14) Sardi SP, et al : Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies. Proc Natl Acad Sci USA 110 : 3537-3542, 2013.
PubMed
P.128 掲載の参考文献
1) Perry TL, et al : Hereditary mental depression and Parkinsonism with taurine deficiency. Arch Neurol 32 : 108-113, 1975.
PubMed
2) Perry TL, et al : Dominantly inherited apathy, central hypoventilation, and Parkinson's syndrome : clinical, biochemical, and neuropathologic studies of 2 new cases. Neurology 40 : 1882-1887, 1990.
 
3) Lechevalier B, et al : Familial parkinsonian syndrome with athymhormia and hypoventilation. Rev Neurol (Paris) 148 : 39-46, 1992.
PubMed
4) Lechevalier B, et al : Perry and Purdy's syndrome (familial and fatal parkinsonism with hypoventilation and athymhormia). Bull Acad Natl Med 189 : 481-490, 2005.
 
5) Elibol B, et al : Familial parkinsonism with apathy, depression and central hypoventilation (Perry's syndrome). In : Mapping the Progress of Alzheimer's and Parkinson's Disease (ed by Mizuno Y, et al), Kluwer Academic/Plenum Publishers, New York, 2002.
 
6) Purdy A, et al : Familial fatal Parkinsonism with alveolar hypoventilation and mental depression. Ann Neurol 6 : 523-531, 1979.
PubMed
7) Roy EP 3rd, et al : Familial parkinsonism, apathy, weight loss, and central hypoventilation : successful long-term management. Neurology 38 : 637-639, 1988.
PubMed
8) Bhatia KP, et al : Familial parkinsonism with depression : a clinicopathological study. Ann Neurol 34 : 842-847, 1993.
PubMed
9) Tsuboi Y, et al : Japanese family with parkinsonism, depression, weight loss, and central hypoventilation. Neurology 58 : 1025-1030, 2002.
PubMed
10) Farrer MJ, et al : DCTN1 mutations in Perry syndrome. Nat Genet 41 : 163-165, 2009.
PubMed
11) Weisbrich A, et al : Structure-function relationship of CAP-Gly domains. Nat Struct Mol Biol 14 : 959-967, 2007.
PubMed
12) Wider C, et al : Elucidating the genetics and pathology of Perry syndrome. J Neurol Sci 289 : 149-154, 2010.
PubMed
13) Wider C, et al : Pallidonigral TDP-43 pathology in Perry syndrome. Parkinsonism Relat Disord 15 : 281-286, 2009.
PubMed
14) Tsuboi Y, et al : Neurodegeneration involving putative respiratory neurons in Perry syndrome. Acta Neuropathol 115 : 263-268, 2008.
PubMed
15) Ohshima S, et al : Autonomic failures in Perry syndrome with DCTN1 mutation. Parkinsonism Relat Disord 16 : 612-614, 2010.
PubMed
16) Newsway V, et al : Perry syndrome due to the DCTN1 G71R mutation : a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. Mov Disord 25 : 767-770, 2010.
PubMed
17) Aji BM, et al : Perry syndrome : a disorder to consider in the differential diagnosis of Parkinsonism. J Neurol Sci 330 : 117-118, 2013.
PubMed
P.131 掲載の参考文献
1) Contamin F, et al : Atrophy of the globus pallidus, substancia nigra, and nucleus subthalamicus. Akinetic syndrome with palilalia, oppositional rigidity and catatonia. Rev Neurol (Paris) 124 : 107-120, 1971.
PubMed
2) Jellinger K : Pallidal, pallidonigral and pallidoluysionigral degenerations including association with thalamic and dentate degenerations. In : Handbook of Clinical Neurology (ed by Vinken PJ, et al), p 445-463, Elsevier Science, Amsterdam, 1986.
 
3) Hasegawa K, et al : A clinicopathologic examination of pallidonigroluysian atrophy. Neuropathology 17 : 134-139, 1997.
 
4) Wong JC, et al : Clinicopathological review of pallidonigroluysian atrophy. Mov Disord 28 : 274-281, 2013.
PubMed
5) Graff-Radford J, et al : Pallidonigroluysian atrophy associated with p.A152T variant in MAPT. Parkinsonism Relat Disord 19 : 838-841, 2013.
 
6) Yamamoto T, et al : Pallido-nigro-luysian atrophy, progressive supranuclear palsy and adult onset Hallervorden-Spatz disease : a case of akinesia as a predominant feature of parkinsonism. J Neurol Sci 101 : 98-106, 1991.
PubMed
7) Katayama S, et al : Slowly progressive L-DOPA nonresponsive pure akinesia due to nigropallidal degeneration : a clinicopathological case study. J Neurol Sci 161 : 169-172, 1998.
PubMed
8) Konishi Y, et al : Autopsy case of pure akinesia showing pallidonigro-luysian atrophy. Neuropathology 25 : 220-227, 2005.
PubMed
9) Factor SA, et al : Primary progressive freezing gait : a syndrome with many causes. Neurology 66 : 411-414, 2006.
 
10) Hasegawa K, et al : Extrapyramidal system involvement in motor neuron disease. J Neurol Sci 108 : 137-148, 1992.
PubMed
11) Toyoshima Y, et al : Is motor neuron disease-inclusion dementia a forme fruste of amyotrophic lateral sclerosis with dementia ? An autopsy case further supporting the disease concept. Neuropathology 25 : 214-219, 2005.
PubMed
12) Ahmed Z, et al : A Huntington's disease phenocopy characterized by pallido-nigro-luysian degeneration with brain iron accumulation and p62-positive glial inclusions. Neuropathol Appl Neurobiol 36 : 551-557, 2010.
 
13) Matsuo H, et al : Pure akinesia : an atypical manifestation of progressive supranuclear palsy. J Neurol Neurosurg Psychiatry 54 : 397-400, 1991.
PubMed
14) Quinn NP, et al : Pure akinesia due to Lewy body Parkinson's disease : a case with pathology. Mov Disord 4 : 85-89, 1989.
PubMed
15) Tateno F, et al : Pure akinesia with low myocardial metaiodobenzylguanidine uptake. Parkinsonism Relat Disord 17 : 357-359, 2011.
PubMed
16) Molinuevo JL, et al : Pure akinesia : an unusual phenotype of Hallervorden-Spatz syndrome. Mov Disord 18 : 1351-1353, 2003.
PubMed
P.135 掲載の参考文献
1) 厚生労働省, 日本神経学会マニュアル作成委員会ほか (編) : 重篤副作用疾患別対応マニュアル薬剤性パーキンソニズム, 平成18年11月. [http://www.info.pmda.go.jp/juutoku/file/jfm0611009.pdf]
 
2) Shin HW, Chung SJ : Drug-induced parkinsonism. J Clin Neurol 8 : 15-21, 2012.
PubMed
3) 'パーキンソン病治療ガイドライン' 作成委員会 (編) : 非運動症状の治療. 消化管運動障害の治療はどうするか. パーキンソン病治療ガイドライン 2011, p 182-184, 医学書院, 2011.
 
4) 武内克也ほか : パリペリドン, リスペリドン. 日本臨床 71 (4) : 654-659, 2013.
 
5) 'パーキンソン病治療ガイドライン' 作成委員会 (編) : 非運動症状の治療. 幻覚・妄想の治療はどうするか. パーキンソン病治療ガイドライン2011, p 163-166, 医学書院, 2011.
 
6) 田所重紀 : ドパミン感受性安定薬としてのアリピプラゾール. 日本臨床 71 : 684-688, 2013.
 
7) Mori E, et al : Donepezil for dementia with Lewy bodies : a randomized, placebo-controlled trial. Ann Neurol 72 : 41-52, 2012.
PubMed
8) 葛原茂樹 : パーキンソン病と鑑別すべき症候性パーキンソニズム. 薬剤性パーキンソニズム. 診断と治療 92 : 755-758, 2004.
Medical*Online
9) 澤田康文ほか : 薬物療法のQuality-of-lifeへの影響. カルシウム拮抗薬によるQOLの悪化. 月刊薬事 37 : 97-109, 1995.
 
10) Armon C, et al : Reversible parkinsonism and cognitive impairment with chronic valproate use. Neurology 47 : 626-635, 1996.
PubMed
11) Bondon-Guitton E, et al : Drug-induced parkinsonism : a review of 17 years'experience in a regional pharmacovigilance center in France. Mov Disord 26 : 2226-2231, 2011.
 
12) Alvarez MV, Evidente VG : Understanding drug-induced parkinsonism : separating pearls from oy-sters. Neurology 70 : e32-34, 2008.
PubMed
13) Lee PH, et al : Odour identification test and its relation to cardiac 123I-metaiodobenzylguanidine in patients with drug induced parkinsonism. J Neurol Neurosurg Psychiatry 78 : 1250-1252, 2007.
PubMed
14) Diaz-Corrales FJ, et al : Clinical features and 123I-FP-CIT SPECT imaging in drug-induced parkinsonism and Parkinson's disease. Eur J Nucl Med Mol Imaging 37 : 556-564, 2010.
PubMed
15) 'パーキンソン病治療ガイドライン' 作成委員会 (編) : パーキンソニズムを出現・悪化させる薬物は何か. パーキンソン病治療ガイドライン2011, p 68-72, 医学書院, 2011.
 
P.142 掲載の参考文献
1) Olanow CW : Manganese-induced parkinsonism and Parkinson's disease. Ann N Y Acad Sci 1012 : 209-223, 2004.
PubMed
2) Wang JD, et al : Manganese induced parkinsonism : an outbreak due to an unrepaired ventilation control system in a ferromanganese smelter. Br J Ind Med 46 : 856-859, 1989.
 
3) Guilarte TR : Manganese neurotoxicity : new perspectives from behavioral, neuroimaging, and neuropathological studies in humans and non-human primates. Front Aging Neurosci 5 : 23, 2013.
PubMed
4) Klos KJ, et al : Neurologic spectrum of chronic liver failure and basal ganglia T1 hyperintensity on magnetic resonance imaging : probable manganese neurotoxicity. Arch Neurol 62 : 1385-1390, 2005.
PubMed
5) Nagatomo S, et al : Manganese intoxication during total parenteral nutrition : report of two cases and review of the literature. J Neurol Sci 162 : 102-105, 1999.
PubMed
6) Cersosimo MG, Koller WC : The diagnosis of manganese-induced parkinsonism. Neurotoxicology 27 : 340-346, 2006.
PubMed
7) 守田誠司ほか : 一酸化炭素中毒. 救急マニュアル 2004 (綜合臨牀 vol.53増刊), 永井書店, ｐ 611-615, 2004.
 
8) Ropper AH, Samuels MA (ed) : The acquired metabolic disorders of the nervous system. In : Adams and Victor's Principles of Neurology, 9th ed, p 1081-1107, McGraw-Hill, New York, 2009.
 
9) Langston JW, et al : Chronic parkinsonism in humans due to a product of meperidine-analog synthesis. Science 219 (4587) : 979-980, 1983.
PubMed
10) Heikkila RE, et al : MTPT and animal models of parkinsonism. In : Handbook of Parkinson's disease (ed by Koller WC), p 267-279, Marcel Dekker, New York, 1987.
 
11) Gorell JM, Rybicki BA : Environmental risk factors for Parkinson's disease. In : Handbook of Parkinson's Disease, 3rd ed (ed by Pahwa R, et al), p 399-362, Marcel Dekker, New York, 2003.
 
12) Tanner CM, et al : Rotenone, paraquat, and Parkinson's disease. Environ Health Perspect 119 : 866-872, 2011.
PubMed
13) Garruto RM : Lessons from the study of natural experiments of hyperendemic foci of neurodegeneration. In : Amyotrophic lateral sclerosis and the frontotemporal dementias (ed by Strong MJ), p 1-26, Oxford University Press, Oxford, 2012.
 
14) Kuzuhara S, Kokubo Y : Amyotrophic lateral sclerosis-parkinsonism-dementia complex in the Kii peninsula of Japan (Muro disease) : a review on recent and new concept. In : Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias (ed by Strong MJ), p 39-54, Oxford University Press, Oxford, 2012.
 
15) Lannuzel A, et al : Atypical parkinsonism in Guadeloupe : a common risk factor for two closely related phenotypes? Brain 130 : 816-827, 2007.
PubMed
P.145 掲載の参考文献
1) Berger JR, Ross DB : Reversible Parkinson syndrome complicating postoperative hypoparathyroidism. Neurology 31 : 881-882, 1981.
PubMed
2) 鈴木浩二ほか : 原発性副甲状腺機能低下症によるパーキンソニズム. 千葉医学雑誌 76 : 197, 2000.
 
3) 丸本浩平, 市川桂二 : パーキンソニズム, 精神遅滞を呈し偽性偽性副甲状腺機能低下症が疑われた一例. 臨床神経学 47 : 322, 2007.
 
4) 青木継稔 : 遺伝性銅代謝異常症-特にWilson病の診断および最新の治療-. 脳と発達 37 : 99-109, 2005.
Medical*Online
5) Shimizu N, et al : Efficacy of D-penicillamine challenge test for diagnosis of Wilson disease. Biomed Res Trace Elements 19 : 72-76, 2008.
 
6) 藤田祥二ほか : Wilson病について-最近の知見-. 函館五稜郭病院医誌 15 : 9-14, 2007.
 
7) 笠原群生, 堀川玲子 : 肝移植による代謝疾患の治療. 小児科 52 : 1764-1770, 2011.
 
8) 藤澤知雄 : わが国におけるWilson病の肝移植-適応と移植成績. 医学のあゆみ 216 : 823-827, 2006.
Medical*Online
9) 石原哲郎ほか : 生体肝移植によりパーキンソニズム, 認知機能の著明な改善をみとめた肝脳変性症の1例. 臨床神経学 52 : 581-584, 2012.
 
10) 平野史倫ほか : パーキンソン症状を主症状とし, 完全寛解したpontine and extrapontine myelinolysisの1生存例. 臨床神経学 32 : 1006-1012, 1992.
 
11) 五十嵐修, 荒崎圭介 : 浸透圧性脱髄症候群の症状と鑑別診断. 神経内科 63 : 125-127, 2005.
 
12) 百島祐貴, 藤原広和 : 浸透圧性脱髄症候群の画像診断. 神経内科 63 : 128-131, 2005.
 
13) 駒場祐一 : 浸透圧性脱髄症候群の予防と治療. 神経内科 63 : 132-135, 2005.
 
14) 西村芳子ほか : 亜急性のパーキンソニズムを呈しMRI上両側基底核病変をみとめた糖尿病性尿毒症症候群 (diabetic uremic syndrome) の1例. 臨床神経学 53 : 217-223, 2013.
 
15) 前野七門ほか : 急性可逆性パーキンソニズムを呈した糖尿病性腎症による維持血液透析の2例. 日透析医学会誌 40 : 919-924, 2007.
 
P.149 掲載の参考文献
1) 東儀英夫ほか : 血管性パーキンソニズム-病態と問題点-. 日内会誌 86 : 792-796, 1997.
 
2) 宮下光太郎 : 脳血管性パーキンソン症候群. Geriatr Med 47 : 967-971, 2009.
Medical*Online
3) Benamer HTS, Grosset DG : Vascular parkinsonism : a clinical review. Eur Neurol 61 : 11-15, 2009.
 
4) Yamanouchi H, Nagura H : Neurological signs and frontal white matter lesions in vascular parkinsonism. A clinicopathologic study. Stroke 28 : 965-969, 1997.
PubMed
5) Jellinger KA : Vascular parkinsonism-neuropathological findings. Acta Neurol Scand 105 : 414-415, 2002.
PubMed
6) Tohgi H, et al : Symptomatic characteristics of parkinsonism and the width of substantia nigra pars compacta on MRI according to ischemic changes in the putamen and cerebral white matter : implications for the diagnosis of vascular parkinsonism. Eur Neurol 46 : 1-10, 2001.
PubMed
7) de Laat KF, et al : Cerebral white matter lesions and lacunar infarcts contribute to the presence of mild parkinsonian signs. Stroke 43 : 2574-2579, 2012.
PubMed
8) Sonia B-R, et al : Clinical features of 123I-FP-CIT SPECT imaging in vascular parkinsonism and Parkinson's disease. J Neurol Neurosurg Psychiatry 84 : 122-129, 2013.
 
9) Wang H-C, et al : Diffusion tensor imaging of vascular parkinsonism : structural changes in cerebral white matter and the association with clinical severity. Arch Neurol 69 : 1340-1348, 2012.
PubMed
10) Glass PG, et al : The clinical features of pathologically confirmed vascular parkinsonism. J Neurol Neurosurg Psychiatry 83 : 1027-1029, 2012.
PubMed
11) Sato Y, et al : Vitamin D reduces falls and hip fractures in vascular Parkinsonism but not in Parkinson's disease. Ther Clin Risk Manag 9 : 171-176, 2013.
 
P.154 掲載の参考文献
1) Von Economo C : Encephalitis Lethargica. Wien Klin Weshr 30 : 581-583, 1917.
 
2) Ravenholt RT, Foege WH : 1918 influenza, encephalitis lethargica, parkinsonism. Lancet 2 : 860-864, 1982.
PubMed
3) Vilensky JA, et al : A historical analysis of the relationship between encephalitis lethargica and postencephalitic parkinsonism : A complex rather than a direct relationship. Mov Disord 25 : 1116-1123, 2010.
PubMed
4) Rail D, et al : Post-encephalitic Parkinsonism : current experience. J Neurol Neurosurg Psychiatry 44 : 670-676, 1981.
PubMed
5) Williams A, et al : Oligoclonal banding in the cerebrospinal fluid of patients with postencephalic Parkinsonism. J Neurol Neurosurg Psychiatry 42 : 790-792, 1979.
 
6) Howard RS, Lees AJ : Encephalitis lethargica. A report of four recent cases. Brain 110 : 19-33, 1987.
 
7) Lopez-Alberola R, et al : Contemporary Encephalitis Lethargica : phenotype, laboratory findings and treatment outcomes. J Neurol 256 : 396-404, 2009.
PubMed
8) Blunt ST, et al : Clinical features and management of two cases of encephalitis lethargica. Mov Disord 12 : 354-359, 1997.
 
9) Dale RC, et al : Encephalitis lethargica syndrome : 20 new cases and evidence of basal ganglia autoimmunity. Brain 127 : 21-33, 2004.
PubMed
10) Kirvan CA, et al : Mimicry and auto-antibody-mediated neuronal cell signaling in Sydenham chorea. Nat Med 9 : 914-920, 2003.
 
11) Vincent A : Encephalitis lethargica : part of a spectrum of post-streptococcal autoimmune diseases? Brain 127 : 2-3, 2004.
PubMed
12) Dale RC, et al : N-methyl-D-aspartate receptor antibodies in pediatric dyskinetic encephalitis lethargica. Ann Neurol 66 : 704-709, 2009.
PubMed
13) Von Economo C : Encephalitis Lethargica : Its Sequelae and Treatment (translated by Newman KO), Oxford University Press, London, 1931.
 
14) Dickman MS : von Economo encephalitis. Arch Neurol 58 : 1696-1698, 2001.
PubMed
15) Josephs KA, et al : Alpha-synuclein studies are negative in postencephalitic parkinsonism of von Economo. Neurology 59 : 645-646, 2002.
PubMed
16) Jellinger KA : Absence of α-synuclein pathology in postencephalitic parkinsonism. Acta Neuropathol 118 : 371-379, 2009.
 
17) Duvoisin RC, et al : Response of patients with postencephalitic Parkinsonism to levodopa. J Neurol Neurosurg Psychiatry 35 : 487-495, 1972.
PubMed
18) 木村朝昭ほか : 日本脳炎ウイルス. 別冊日本臨牀 神経症候群 I, p 465-468, 日本臨牀社, 1999.
 
19) 内藤寛ほか : S状結腸軸捻転症を繰り返した日本脳炎後パーキンソニズムの1例. 神経治療 25 : 157-162, 2008.
Medical*Online
P.157 掲載の参考文献
1) Blocq P, Marinesco G : Sur un cas de tremblement parkinsonien hemiplegique symptomatique d'une tumeur du pedoncule cerebral. Compt rend Soc de biol 45 : 105-111, 1893.
 
2) Krauss J, et al : Parkinsonism and rest tremor secondary to supratentorial tumours sparing the basal ganglia. Acta Neurochirurgica 133 : 22-29, 1995.
PubMed
3) Ishihara S, et al : Clinicoradiological changes of brain NK/T cell lymphoma manifesting pure akinesia : a case report. BMC Neurol 11 : 137, 2011.
 
4) Polyzoidis K, et al : Parkinsonism as a manifestation of brain tumor. Surg Neurol 23 : 59-63, 1985.
PubMed
5) Krauss JK, et al : Movement disorders in astrocytomas of the basal ganglia and the thalamus. J Neurol Neurosurg Psychiatry 55 : 1162-1167, 1992.
 
6) Kondo T : Brain tumor and parkinsonism. Nihon Rinsho 55 : 118-122, 1997.
PubMed
7) Choi KH, et al : Astrocytoma in the third ventricle and hypothalamus presenting with parkinsonism. J Korean Neurosurg Soc 51 : 144-146, 2012.
PubMed
8) Leenders KL, et al : PET before and after surgery for tumor-induced parkinsonism. Neurology 36 : 1074-1078, 1986.
PubMed
9) Miyagi Y, et al : Striatal glucose metabolism and [18F] fluorodopa uptake in a patient with tumor-induced hemiparkinsonism. Neurosurgery 32 : 838-841, 1993.
 
10) 安原隆雄ほか : 脳腫瘍とパーキンソニズム. 日本臨牀 67 : 286-290, 2009.
 
11) Kulali A, et al : Ipsilateral hemi-parkinsonism secondary to an astrocytoma. J Neurol Neurosurg Psychiatry 54 : 653, 1991.
 
12) Miyagi Y, et al : Intraventricular cavernous malformation associated with medullary venous malformation. Neurosurgery 32 : 461-464, 1993.
PubMed
13) Yoshimura M, et al : Hemiparkinsonism associated with a mesencephalic tumor. J Neurol Sci 197 : 89-92, 2002.
PubMed
14) Gherardi R, et al : Parkinsonian syndrome and central nervous system lymphoma involving the substantia nigra. A case report. Acta Neuropathologica 65 : 338-343, 1985.
PubMed
15) Yamasaki F, et al : Recurrence of meningiomas. Cancer 89 : 1102-1110, 2000.
PubMed
P.161 掲載の参考文献
1) 日本正常圧水頭症学会, 特発性正常圧水頭症診療ガイドライン作成委員会 (編) : 特発性正常圧水頭症診療ガイドライン, 第2版, メディカルレビュー社, 2011.
 
2) Hakim S, Adams RD : The special clinical problem of symptomatic hydrocephalus with normal cerebrospinal fluid pressure : observations on cerebrospinal fluid hydrodynamics. J Neurol Sci 2 : 307-327, 1965.
PubMed
3) Adams RD, et al : Symptomatic occult hydrocephalus with "normal" cerebrospinal fluid pressure : a treatable syndrome. N Engl J Med 273 : 117-126, 1965.
PubMed
4) Iseki C, et al : Asymptomatic ventriculomegaly with features of idiopathic normal pressure hydrocephalus on MRI (AVIM) in the elderly : A prospective study in a Japanese population. J Neurol Sci 277 : 54-57, 2009.
 
5) Casmiro M, et al : Risk factors for the syndrome of ventricular enlargement with gait apraxia (idiopathic normal pressure hydrocephalus) : a case-control study. J Neurol Neurosurg Psychiatry 52 : 847-852, 1989.
PubMed
6) Bech RA, et al : Shunting effects in patients with idiopathic normal pressure hydrocephalus : correlation with cerebral and leptomeningeal biopsy findings. Acta Neurochir (Wien) 141 : 633-639, 1999.
PubMed
7) Miyoshi N, et al : Association between cognitive impairment and gait disturbance in patients with idiopathic normal pressure hydrocephalus. Dement Geriatr Cogn Disord 20 : 71-76, 2005.
PubMed
8) Sakakibara R, et al : Mechanism of bladder dysfunction in idiopathic normal pressure hydrocephalus. Neurourol Urodyn 27 : 507-510, 2008.
PubMed
9) Hashimoto M, et al : Diagnosis of idiopathic normal pressure hydrocephalus is supported by MRI-based scheme : a prospective cohort study. Cerebrospinal Fluid Res 7 : 18, 2010.
PubMed
10) Walchenbach R, et al : The value of temporary external lumbar CSF drainage in predicting the outcome of shunting on normal pressure hydrocephalus. J Neurol Neurosurg Psychiatry 72 : 503-506, 2002.
PubMed
11) Oi S, et al : Pathophysiology of long-standing overt ventriculomegaly in adults. J Neurosurg 92 : 933-940, 2000.
PubMed
12) Aoki N : Lumboperitoneal shunt : Clinical applications, complications, and comparison with ventriculoperitoneal shunt. Neurosurgery 26 : 998-1004, 1990.
PubMed
13) Wang VY, et al : Complications of lumboperitoneal shunts. Neurosurgery 60 : 1045-1048, 2007.
PubMed
P.167 掲載の参考文献
1) Hayden MR : Huntington's Chorea, Springer-Verlag, New York, 1981.
 
2) Huntington G : On chorea. Medical and Surgical Reporter 26 : 317-321, 1872.
 
3) Pringsheim T, et al : The incidence and prevalence of Huntington's disease : a systematic review and meta-analysis. Mov Disord 27 : 1083-1091, 2012.
 
4) 岸本鎌一ほか : 日本におけるハンチントン舞踏病の集団遺伝学的研究. 環境医学研究所年報 9 : 195-211, 1958.
 
5) 金澤一郎 : 茨城県におけるハンチントン舞踏病の実態調査. 厚生省特定疾患・神経変性疾患調査研究班1982年度研究報告書, p 151-156, 1983.
 
6) Nakashima K, et al : Epidemiological and genetic studies of Huntington's disease in the San-in area of Japan. Neuroepidemiology 15 : 126-131, 1996.
 
7) 難病情報センターホームページ (2013年8月現在). [http://www.nanbyou.or.jp/]
 
8) 独立行政法人統計センター, 総務省統計局 : (参考表) 全国人口の推移. 政府統計の総合窓口 e-Stat. [http://www.e-stat.go.jp]
 
9) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Cell 72 : 971-983, 1993.
 
10) Duyao MP, et al : Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 269 : 407-410, 1995.
 
11) Zeitlin S, et al : Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nat Genet 11 : 155-163, 1995.
 
12) Duyao M, et al : Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet 4 : 387-392, 1993.
 
13) Snell RG, et al : Relationship between repeat expansion and phenotypic variation in Huntington's disease. Nat Genet 4 : 393-397, 1993.
 
14) Andrew SE, et al : The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet 4 : 398-403, 1993.
 
15) Masuda N, et al : Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease. J Med Genet 32 : 701-705, 1995.
 
16) McFarland KN, Cha JH : Molecular biology of Huntington's disease. Hand Clin Neurol 100 : 25-81, 2011.
 
17) Unified Huntington's Disease Rating Scale : reliability and consistency. Huntington Study Group. Mov Disord 11 : 136-142, 1996.
 
18) Novak MJ, Tabrizi SJ : Huntington's disease : clinical presentation and treatment. Int Rev Neurobiol 98 : 297-323, 2011.
 
P.172 掲載の参考文献
1) Wild EJ, et al : Huntington's disease phenocopies are clinically and genetically heterogeneous. Mov Disord 23 : 716-720, 2008.
 
2) Xiang F, et al : A Huntington disease-like neurodegenerative disorder maps to chromosome 20p. Am J Hum Genet 63 : 1431-1438, 1998.
PubMed
3) Moore RC, et al : Huntington disease phenocopy is a familial prion disease. Am J Hum Genet 69 : 1385-1388, 2001.
 
4) 下畑享良, 西澤正豊 : 舞踏運動の鑑別診断. BRAIN and NERVE 61 : 963-971, 2009.
 
5) Margolis RL, et al : A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion. Ann Neurol 50 : 373-380, 2001.
 
6) Rudnicki DD, et al : Huntington's disease-like 2 is associated with CUG repeat-containing RNA foci. Ann Neurol 61 : 272-282, 2007.
 
7) Al-Tahan AY, et al : A novel autosomal recessive 'Huntington's disease-like' neurodegenerative disorder in a Saudi family. Saudi Med J 20 : 85-89, 1999.
 
8) Kambouris M, et al : Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3. Am J Hum Genet 66 : 445-452, 2000.
PubMed
9) Schneider SA, Bhatia KP : Huntington's disease look-alikes. In : Handbook of Clinical Neurology, Vol 100 (ed by Weiner WJ, Tolosa E), p 101-112, Elsevier BV, Amsterdam, 2011.
 
10) Martino D, et al : The differential diagnosis of Huntington's disease-like syndromes : 'red flags' for the clinician. J Neurol Neurosurg Psychiatry 84 : 650-656, 2013.
 
11) Walker RH, et al : Phenotypic features of Huntington's disease-like 2. Mov Disord 18 : 1527-1530, 2003.
 
P.177 掲載の参考文献
1) Ueno S, et al : The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet 28 : 121-122, 2001.
PubMed
2) Rampoldi L, et al : A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet 28 : 19-20, 2001.
 
3) Mizuno E, et al : Brain-specific transcript variants of 5' and 3' ends of mouse VPS13A and VPS13C. Biochem Biophys Res Commun 353 : 902-907, 2007.
PubMed
4) Dobson-Stone C, et al : Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet 10 : 773-781, 2002.
PubMed
5) Ichiba M, et al : Clinical and molecular genetical assessment of a chorea-acanthocytosis pedigree. J Neurol Sci 263 : 124-132, 2007.
 
6) 富安昭之ほか : 有棘赤血球舞踏病におけるVPS13A遺伝子のコピー数変異. 生体の科学 62 : 560-564, 2011.
 
7) Tomiyasu A, et al : Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis. Am J Med Genet B Neuropsychiatr Genet 156B : 620-631, 2011.
PubMed
8) Kurano Y, et al : In vivo distribution and localization of chorein. Biochem Biophys Res Commun 353 : 431-435, 2007.
PubMed
9) Tomemori Y, et al : A gene-targeted mouse model for chorea-acanthocytosis. J Neurochem 92 : 759-766, 2005.
PubMed
10) Kurano Y, et al : Chorein deficiency leads to upregulation of gephyrin and GABAA receptor. Biochem Biophys Res Commun 351 : 438-442, 2006.
 
11) Hayashi T, et al : Subcellular localization and putative role of VPS13A/chorein in dopaminergic neuronal cells. Biochem Biophys Res Commun 419 : 511-516, 2012.
PubMed
12) 厚生労働省難病情報センター特定疾患情報 診断・治療指針 (医療従事者向け) 有棘赤血球を伴う舞踏病. [http://www.nanbyou.or.jp/entry/338]
 
13) 中村雅之, 佐野 輝 : 症候群ハンドブック (5. 有棘赤血球を伴う舞踏病), p 117-121, 中山書店, 2011.
 
14) 中村雅之, 佐野輝 : VII章 認知症各論 Huntington病, 歯状核赤核淡蒼球ルイ体萎縮症, 有棘赤血球舞踏病. 脳とこころのプライマリケア 2巻 知能の衰え (池田学編), p 456-462, シナジー, 2013.
 
15) 市場美緒ほか : 神経有棘赤血球症. BRAIN and Nerve : 神経研究の進歩 60 : 635-641, 2008.
 
P.180 掲載の参考文献
1) Allen FH Jr, et al : A new phenotypes (McLeod) in the Kell blood-group system. Vox Sang 6 : 555-560, 1961.
 
2) Witt TN, et al : McLeod syndrome : a distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestation. J Neurol 239 : 302-306, 1992.
PubMed
3) Walker RH, et al : Neuroacanthocytosis. Handb Clin Neurol 100 : 141-151, 2011.
PubMed
4) Jung HH, et al : Neuroacanthocytosis syndromes. Orphanet J Rare Dis 6 : 68, 2011.
PubMed
5) 佐野輝 : 有棘赤血球を伴う舞踏病の診断基準. 厚生労働科学研究費補助金難治性疾患克服事業「神経変性疾患に関する調査研究 (研究代表者 : 中野今治) 」平成21年度総括・分担研究報告書, p 20-23, 2010.
 
6) Schwartz SA, et al : New clinical features of McLeod syndrome. Transfusion 22 : 404, 1982.
 
7) Danek A, et al : Cerebral involvement in McLeod syndrome. Neurology 44 : 117-120, 1994.
PubMed
8) Walker RH, et al : Neurologic phenotypes associated with acanthocytosis. Neurology 68 : 92-98, 2007.
PubMed
9) Takashima H, et al : A family of McLeod syndrome, masquerading as chorea-acanthocytosis. J Neurol Sci 124 : 56-60, 1994.
PubMed
10) 酒井竜一郎ほか : XK遺伝子に点変異を認めたMcLeod症候群の1例. 神経内科 78 : 344-347, 2013.
 
11) Ho M, et al : Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell 77 : 869-880, 1994.
PubMed
12) Amaud L, et al : Identification and characterization of a novel XK splice site mutation in patient with McLeod syndrome. Tranfusion 49 : 479-484, 2009.
 
13) Dubielecka PM, et al : Two McLeod patients with novel mutations in XK. J Neurol Sci 305 : 160-164, 2011.
PubMed
14) Shah JR, et al : A case of McLeod phenotypes of neuroacanthocytosis brain MR features and literature review. Neuroradiol J 26 : 21-26, 2013.
PubMed
15) Vazquez MJ, Martinez MC : Electroconvulsive therapy in neuroacanthocytosis or McLeod syndrome. J ECT 25 : 72-73, 2009.
PubMed
P.184 掲載の参考文献
1) Haerer AF, et al : Hereditary nonprogressive chorea of early onset. N Engl J Med 276 (22) : 1220-1224, 1967.
PubMed
2) Breedveld GJ, et al : Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 11 (8) : 971-979, 2002.
PubMed
3) Devriendt K, et al : Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N Engl J Med 338 (18) : 1317-1318, 1998.
 
4) Krude H, et al : Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 109 (4) : 475-480, 2002.
PubMed
5) Kleiner-Fisman G, et al : Benign hereditary chorea : clinical, genetic, and pathological findings. Ann Neurol 54 (2) : 244-247, 2003.
PubMed
6) Willemsen MA, et al : Brain-Thyroid-Lung syndrome : a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene. Eur J Pediatr 164 (1) : 28-30, 2005.
PubMed
7) Shimohata T, et al : Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3. Brain 130 (Pt 9) : 2302-2309, 2007.
PubMed
8) Harper PS : Benign hereditary chorea. Clinical and genetic aspects. Clin Genet 13 (1) : 85-95, 1978.
PubMed
9) Asmus F, et al : Clinical differentiation of genetically proven benign hereditary chorea and myoclonus -dystonia. Mov Disord 22 (14) : 2104-2109, 2007.
PubMed
10) Konishi T, et al : Benign hereditary chorea : dopaminergic brain imaging in patients with a novel intronic NKX2.1 gene mutation. J Neurol 260 (1) : 207-213, 2012.
PubMed
11) Kleiner-Fisman G, et al : Alterations of striatal neurons in benign hereditary chorea. Mov Disord 20 (10) : 1353-1357, 2005.
PubMed
12) Mahajnah M, et al : Benign hereditary chorea : clinical, neuroimaging, and genetic findings. J Child Neurol 22 (10) : 1231-1234, 2007.
PubMed
13) Asmus F, et al : A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. Neurology 64 (11) : 1952-1954, 2005.
PubMed
14) Ferrara JM, et al : Brain-lung-thyroid disease : clinical features of a kindred with a novel thyroid transcription factor 1 mutation. J Child Neurol 27 (1) : 68-73, 2012.
PubMed
15) Nakamura K, et al : A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea. J Neurol Sci 313 (1-2) : 189-192, 2012.
 
P.190 掲載の参考文献
1) Yahikozawa H, et al : Hemiballism with striatal hyperintensity on T1-weighed-MRI in diabetic patients : a unique syndrome. J Neurol Sci 124 : 208-214, 1994.
 
2) Hashimoto T, et al : Persistent hemiballism with striatal hyperintensity on T1-weighed MRI in a diabetic patient : a 6-year follow-up study. J Neurol Sci 165 : 178-181, 1999.
 
3) Ohara S, et al : Hemiballism with hyperglycemia and striatal T1-MRI hypterintenisty : An autopsy report. Mov Disord 16 : 521-525, 2001.
PubMed
4) Oh SH, et al : Chorea associated with non-ketotic hyperglycemia and hyperintensity basal ganglia lesion on T1-weighed brain MRI study : A mata-analysis of 53 cases including four present cases. J Neurol Sci 200 : 57-62, 2002.
 
5) Abe Y, et al : Diabetic Striatal Disease : Clinical Presentation, Neuroimaging, and Pathology. Intern Med 48 : 1135-1141, 2009.
PubMed
6) Shan DE, et al : Hemichorea-hemiballism : an explanation for MR signal changes. Am J Neuroradiol 19 : 863-870, 1998.
 
7) Fujioka M, et al : Delayed ischemic hyperintensity on T1-weighited MRI in the caudoputamen and cerebral cortex of humans after spectacular shrinking deficit. Stroke 30 : 1038-1042, 1999.
 
8) Fujioka M, et al : Magnetic resonance imaging shows delayed ischemic striatal neurodegeneration. Ann Neurol 54 : 732-747, 2003.
PubMed
9) Hashimoto T, et al : Change in striatal metabolism in diabetic haemichorea-haemiballism. BMJ Case Rep 2012 ; do : i 10.1135/bcr-2012-006405.
 
10) Goto T, et al : Pallidal neuronal activity in diabetic hemichorea-hemiballism. Mov Disord 25 : 1295-1297, 2010.
PubMed
11) Critchley M : The neurology of old age. Lancet 1 : 1221-1230, 1931.
 
12) Garcia Ruiz PJ, et al : Senile chorea : a multicenter prospective study. Acta Neurol Scand 95 : 180-183, 1997.
PubMed
13) Peter C : Beitrag zur Klinik und Pathologie der Chorea im Greisenalter. Mtschr Psychiat Neurol 56 : 281-300, 1924.
 
14) Alcock NS : A note on the pathology of senile chorea (non-hereditary). Brain 59 : 376-387, 1936.
 
15) Shinotoh H, et al : Normal CAG repeat length in the Huntington's disease gene in senile chorea. Neurology 44 : 2183-2184, 1994.
 
16) 奥山央ほか : 高齢発症の舞踏病の1例. 脳神経 48 : 741-746, 1996.
 
P.194 掲載の参考文献
1) Aron AM, et al : The natural history of Sydenham's chorea. Review of the literature and long-term evaluation with emphasis on cardiac sequelae. Am J Med 38 : 83-95, 1965.
 
2) Guidelines for the diagnosis of rheumatic fever. Jones Criteria, 1992 update. Special Writing Group of the Committee on Rheumatic Fever, Endocarditis, and Kawasaki Disease of the Council on Cardiovascular Disease in the Young of the American Heart Association. JAMA 268 : 2069-2073, 1992.
 
3) Cardoso F, et al : Chorea in fifty consecutive patients with rheumatic fever. Mov Disord 12 : 701-703, 1997.
PubMed
4) Maia DP, et al : Obsessive compulsive behavior, hyperactivity, and attention deficit disorder in Sydenham chorea. Neurology 64 : 1799-1801, 2005.
PubMed
5) Swedo SE, et al : Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) : a clinical description of the first 50 cases. Am J Psychiatry 155 : 264-271, 1998.
 
6) de Oliveira SK, Pelajo CF : Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infection (PANDAS) : a Controversial Diagnosis. Curr Infect Dis Rep 12 : 103-109, 2010.
PubMed
7) Singer HS, et al : Moving from PANDAS to CANS. J Pediatr 160 : 725-731, 2012.
PubMed
8) Stollerman GH : Rheumatic fever in the 21st century. Clin Infect Dis 33 : 806-814, 2001.
PubMed
9) Husby G, et al : Antibodies reacting with cytoplasm of subthalamic and caudate nuclei neurons in chorea and acute rheumatic fever. J Exp Med 144 : 1094-1110, 1976.
PubMed
10) Kirvan CA, et al : Mimicry and autoantibody-mediated neuronal cell signaling in Sydenham chorea. Nat Med 9 : 914-920, 2003.
PubMed
11) Cox CJ, et al : Brain human monoclonal autoantibody from sydenham chorea targets dopaminergic neurons in transgenic mice and signals dopamine d2 receptor : implications in human disease. J Immunol 191 : 5524-5541, 2013.
 
12) Dale RC, et al : Antibodies to surface dopamine-2 receptor in autoimmune movement and psychiatric disorders. Brain 135 : 3453-3468, 2012.
PubMed
13) Swedo SE, et al : Sydenham's chorea : physical and psychological symptoms of St Vitus Dance. Pediatrics 91 : 706-713, 1993.
 
14) Giedd JN, et al : Sydenham's chorea : magnetic resonance imaging of the basal ganglia. Neurology 45 : 2199-2202, 1995.
 
15) Gilbert DL : Acute and chronic chorea in childhood. Semin Pediatr Neurol 16 : 71-76, 2009.
PubMed
P.200 掲載の参考文献
1) 金生由紀子 : トゥレット障害-「 不随意」と「随意」の間-. 精神の脳科学 (加藤忠史編), p 35-69, 東京大学出版会, 2008.
 
2) 金生由紀子 : トゥレット障害. 日小児会誌 114 : 1673-1680, 2010.
 
3) Robertson MM : The prevalence and epidemiology of Gilles de la Tourette syndrome. Part 1 : the epidemiological and prevalence studies. J Psychosom Res 65 : 461-472, 2008.
PubMed
4) Perou R, et al : Mental health surveillance among children-United States, 2005-2011. MMWR Surveill Summ 62 (Suppl 2) : 1-35, 2013.
 
5) American Psychiatric Association : Diagnostic and Statistical Manual of Mental Disorders, 5th ed, American Psychiatric Association, Arlington, 2013.
 
6) 金生由紀子 : Gilles de la Tourette症候群をめぐる最近の話題. Annual Review神経 2011 (鈴木則宏ほか編), p 268-277, 中外医学社, 2011.
 
7) Felling RJ, Singer HS : Neurobiology of tourette syndrome : current status and need for further investigation. J Neurosci 31 : 12387-12395, 2011.
PubMed
8) Karagiannidis I, et al : Support of the histaminergic hypothesis in Tourette Syndrome : association of the histamine decarboxylase gene in a large sample of families. J Med Genet 50 : 760-764, 2013.
 
9) Macerollo A, Martino D : Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) : An Evolving Concept. Tremor Other Hyperkinet Mov (NY) 3.pii : tre-03-167-4158-4157, 2013.
 
10) 松田なつみ, 金生由紀子 : トゥレット症候群の支援と治療. 最新精神医学 18 : 39-47, 2013.
 
11) 金生由紀子 : 子どものチック障害及び強迫性障害. 児童青年精神医学とその近接領域 54 : 175-185, 2013.
 
12) Yoo HK, et al : A multicenter, randomized, double-blind, placebo-controlled study of aripiprazole in children and adolescent with Tourette's disorder. J Clin Psychiatry 74 : e772-e780, 2013.
PubMed
P.207 掲載の参考文献
1) Oppenheim H : Uber eine eigenartige Krampfkrankeheit des kindlichen unt jugendlichen Alters (Dysbasia lordotoca progressiva, dystonia musculrum deformans). Neurol Zentralblat 30 : 1090-1107, 1911.
 
2) Jimenez-Shahed J, Jankovic J : Introduction to dystonia. In : Handbook of Dystonia, 2nd ed (ed by Stacy M), Informa Healthcare, 2012.
 
3) Ziehen GT : Ein fall von tonischer Torsionsneurose. Demonstratopmem im Psychiatrischen Verein zu Berlin. Neurologisches Zentralblatt Leipzig 30 : 109-110, 1911.
 
4) Flatau E, Sterling W : Progressiver Torsionsspamus bei Kindern. Z Gemachate Neurol Psychiatry 7 : 586-612, 1911.
 
5) Herz E : Dystonia 1. Historical review ; analysis of dystonic symptoms and physiologic mechanisms involved. Arch Neurol Psychiatr 51 : 305-318, 1944.
 
6) Fahn S, et al : Chapter 17 Classification and investigation of dystonia. In : Movement Disorders 2nd ed (ed by Marsden CD, Fahn S), Butterworths, London, 1987.
 
7) MOWEMOVE : Dystonia. Overview of Dystonia. [http://www.wemove.org/dys/]
 
8) Albanese A, et al : Phenomenology and classification of dystonia : a consensus update. Mov Disord 28 : 863-873, 2013.
PubMed
9) Lohmann K, Klein C : Genetics of dystonia : What's known? What's new? What's next? Mov Disord 28 : 899-905, 2013.
PubMed
P.211 掲載の参考文献
1) Albanese A, et al : Phenomenology and classification of dystonia : a consensus update. Mov Disord 28 : 863-873, 2013.
PubMed
2) 目崎高広 : 多巣性ジストニア. ジストニアのすべて-最新の治療指針 (梶龍兒編), p 33-34, 診断と治療社, 2013.
 
3) Fahn S : Concept and classification of dystonia. Adv Neurol 50 : 1-8, 1988.
PubMed
4) 長谷川一子 : ジストニアの疫学-神経内科専門医を対象とした全国調査-. 神経内科 67 : 53-56, 2007.
 
5) Domenech J, et al : Somatosensory cortectomy induces motor cortical hyperexcitability and scoliosis : an experimental study in developing rats. Spine J 13 : 938-946, 2013.
PubMed
6) Paulson GW : Meige's syndrome. Dyskinesia of the eyelids and facial muscles. Geriatrics 27 : 69-73, 1972.
 
7) Meige H : Les convulsions de la face. Une forme clinique de convulsion faciale bilaterale et mediane (1). Rev Neurol (Paris) 21 : 437-443, 1910. (英文抄訳 : Tolosa ES, Klawans HL : Meiges disease : a clinical form of facial convulsion, bilateral and medial. Arch Neurol 36 : 635-637, 1979.)
 
8) 目崎高広 : 眼瞼痙攣+口 ・下顎ジストニー≠Meige症候群. 神経内科 57 : 464, 2002.
 
P.216 掲載の参考文献
1) Ichinose H, et al : Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 8 : 236-242, 1994.
PubMed
2) Ozelius L, et al : Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron 2 : 1427-1434, 1989.
PubMed
3) Ozelius LJ, et al : The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 17 : 40-48, 1997.
PubMed
4) Ozelius LJ, et al : The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family. Adv Neurol 78 : 93-105, 1998.
PubMed
5) Bragg DC, et al : TorsinA and early-onset torsion dystonia. Adv Neurol 94 : 87-93, 2004.
PubMed
6) 野村芳子 : DYT1 (Dystonia musculorum deformans). Clinical Neuroscience 28 (7) : 757-761, 2010.
 
7) Santangelo, G : Contributo clinico alla conoscenza delle forme familiari della dysbasia lordotica progressiva (spasmo di torsione). G Psychiat Neuropat 62 : 52-77, 1934.
 
8) Marsden, CD, et al : Natural history of idiopathic torsion dystonia. Adv Neurol 14 : 177-187, 1976.
PubMed
9) Eldridge R : The torsion dystonias : literature review and genetic and clinical studies. Neurology 20 : 1-78, 1970.
PubMed
10) Korczyn AD, et al : Torsion dystonia in Israel. Ann Neurol 8 : 387-391, 1980.
 
11) Gimenez-Roldan S, et al : Dystonia in Spain : study of a Gypsy family and general survey. Adv Neurol 14 : 125-136, 1976.
PubMed
12) Khan NL, et al : Autosomal recessive, DYT2-like primary torsion dystonia : a new family. Neurology 61 : 1801-1803, 2003.
PubMed
13) Chouery E, et al : A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12. Neurogenetics 9 : 287-293, 2008.
PubMed
14) Forsgren L, et al : Autosomal dominant torsion dystonia in a Swedish family. Adv Neurol 50 : 83-92, 1988.
 
15) Norgren N, et al : A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3. Neurogenetics 12 : 137-143, 2011.
PubMed
P.222 掲載の参考文献
1) Parker N : Hereditary whispering dysphonia. J Neurol Neurosurg Psychiatry 48 : 218-224, 1985.
PubMed
2) Wilcox RA, et al : Whispering dysphonia in an Australian famil (yDYT4) : a clinical and genetic reappraisal. Mov Disord 26 : 2404-2408, 2011.
 
3) Hersheson J, et al : Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol 73 : 546-553, 2013.
 
4) Yen TJ, et al : Autoregulated instability of beta-tubulin mRNAs by recognition of the nascent amino terminus of beta-tubulin. Nature 334 : 580-585, 1988.
PubMed
5) Lohmann K, et al : Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann Neurol 73 : 537-545, 2013.
PubMed
6) Almasy L, et al : Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann Neurol 42 : 670-673, 1997.
PubMed
7) Muller U, et al : Clinical and molecular genetics of primary dystonias. Neurogenetics 1 : 165-177, 1998.
PubMed
8) Saunders-Pullman R, et al : Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites. Am J Med Genet 143A : 2098-2105, 2007.
PubMed
9) Fuchs T, et al : Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 41 : 286-288, 2009.
PubMed
10) Lohmann K, et al : Identification and functional analysis of novel THAP1 mutations. Eur J Hum Genet 20 : 171-175, 2012.
PubMed
11) Leube B, et al : Idiopathic torsion dystonia : assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum Mol Genet 5 : 1673-1677, 1996.
 
12) Bentivoglio AR, et al : Non-DYT1 dystonia in a large Italian family. J Neurol Neurosurg Psychiatry 62 : 357-360, 1997.
 
13) Valente EM, et al : DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset. Ann Neurol 49 : 362-366, 2001.
PubMed
14) Uitti RJ, Maraganore DM : Adult onset familial cervical dystonia : report of a family including monozygotic twins. Mov Disord 8 : 489-494, 1993.
PubMed
15) Xiao J, et al : Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol 71 : 458-469, 2012.
PubMed
P.230 掲載の参考文献
1) Ichinose H, et al : Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 8 : 236-242, 1994.
PubMed
2) Segawa M, et al : A single gene for dystonia involved both or either of the two striatal pathways. In : The Basal Ganglia VII (ed by Nicholson L, et al), p 155-164, Kluwer Academic/Plenum, Publishers, New York, 2002.
 
3) McGeer EG, McGeer PL : Some characteristics of brain tyrosine hydroxylase. In : New Concepts in Neurotransmitter Regulationed (by Mandel J), p 53-68, Plenum, New York-London, 1973.
 
4) Segawa M : Dopa-responsive dystonia. In : Handbook of Clinical Neurology, Vol 100 (3rd series) (ed by Michael J, et al) : Hyperkinetic Movement Disorders, p 539-557, Elsevier Science Publishers B.V, Amsterdam, 2011.
 
5) Hanajima R, et al : Intracortical inhibition of the motor cortex in Segawa disease (DYT5). Neurology 68 : 1039-1044, 2007.
PubMed
6) Hikosaka, et al : Voluntary saccades in normal and in dopamine-deficient subjects. In : Age-Related Dopamine-Dependent Disorders : Monographs of Neural Science Vol.14 (ed by Segawa M, Nomura Y), p 59-68, Karger, Basel, 1995.
 
7) Segawa, et al : Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa Disease). Ann Neurol 54 (Suppl 6) : S32-S45, 2003.
 
8) Rajput AH, et al : Dopa-responsive dystonia : pathological and biochemical observations in a case. Ann Neurol 35 : 396-402, 1994.
 
9) 藤田繁, 新宅治夫 : 著明な日内変動を伴う遺伝性進行性ジストニア (HPD : 瀬川病) の病因とプテリジン代謝異常. 市立釧路総合病院医学雑誌 2 : 64-67, 1990.
 
10) Takahashi H, et al : Fluorodopa PET scans of juvenile parkinsonism with prominent dystonia in relation to dopa-responsive dystonia. In : Age-related Dopamine-Dependent Disorders, Monogr Neural Sci Vol.14 (ed by Segawa M, Nomura Y), p 87-94, Karger, Basel, 1995.
 
11) Furukawa, et al : CSF biopterin levels and clinical features of patients with juvenile parkinsonism. In : Advances in Neurology Vol.60 (ed by Narabayashi, et al), p 562-567, Raven, New York, 1993.
 
12) Segawa M, et al : Dopa-responsive dystonia is caused by particular impairment of nigrostriatal dopamine neurons different from those involved in Parkinson disease : evidence observed in studies on Segawa disease. Neuropediatrics 44 : 61-66, 2013.
PubMed
13) Furukawa, Y : Genetics and biochemistry of dopa-responsive dystonia : significance of striatal tyrosine hydroxylase protein loss. Adv Neurol 91 : 401-410, 2003.
PubMed
14) Furukawa Y, Kish SJ : Dopa-responsive dystonia : recent advances and remaining issues to be addressed. Mov Disord 14 : 709-715, 1999.
PubMed
15) Segawa M, et al : Long term effects of L-dopa on hereditary progressive dystonia with marked diurnal fluctuation. In : Motor Disturbance II (ed by Berardelli A, et al), p 305-318, Academic Press, London, 1990.
 
16) Segawa M, et al : Is phenotypic variation of Hereditary Progressive Dystonia with marked diurnal fluctuation/Dopa-Responsive Dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-I) gene? In : Dystonia 4 (Advances in Neurology 94) (ed by Fahn S, et al), p 217-223, Lippincott Williams & Wilkins, Philadelphia, 2004.
 
17) Irie S, et al : A case of parkinsonism and dopa-induced severe dyskinesia associated with novel mutation in the GTP cyclohydrolase I gene. Parkinsonism Relat Disord 17 : 769-770, 2011.
PubMed
P.239 掲載の参考文献
1) OMIM : #608643.
 
2) Brun L, et al : Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology 75 : 64-71, 2010.
PubMed
3) Verbeek MM, et al : Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes. Mol Genet Metab 90 : 363-369, 2007.
PubMed
4) Hwu WL, et al : Gene therapy for aromatic L-amino acid decarboxylase deficiency. Sci Transl Med 4 : 134ra61, 2012.
PubMed
5) OMIM : #612716*182125.
 
6) Arrabal L, et al : Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. Neurogenetics 12 : 183-191, 2011.
PubMed
7) Friedman J, et al : Sepiapterin reductase deficiency : a treatable mimic of cerebral palsy. Ann Neurol 71 : 520-530, 2012.
PubMed
8) Steinberger D, et al : Heterozygous mutation in 5-prime-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia. Neurogenetics 5 : 187-190, 2004.
 
9) Blau N, et al : International database of tetrahydrobiopterin deficiencies. J Inherit Metab Dis 19 : 8-14, 1996.
 
10) Bonafe L, et al : Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet 69 : 269-277, 2001.
 
11) Verbeek MM, et al : Two Greek siblings with sepiapterin reductase deficiency. Mol Genet Metab 94 : 403-409, 2008.
PubMed
12) 本間大悟, 一瀬宏 : セピアプテリン還元酵素欠損症の分子遺伝学. ジストニア2012 (長谷川一子編), 中外医学社, 2012.
 
13) OMIM : #605407.
 
14) Swoboda KJ, Furukawa Y : Tyrosine Hydroxylase Deficiency. In : GeneReview [sInternet], 2008.
 
15) Grattan-Smith PJ, et al : Tyrosine hydroxylase deficiency : clinical manifestations of catecholamine insufficiency in infancy. Mov Disord 17 : 354-359, 2002.
PubMed
16) Hoffmann GF, et al : Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol 54 (Suppl 6) : 56-65, 2003.
 
17) Zafeiriou DI, et al : Tyrosine hydroxylase deficiency with severe clinical course. Mol Genet Metab 97 : 18-20, 2009.
PubMed
18) Ribases M, et al : A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy : clinical, biochemical and genetic analysis. Mol Genet Metab 92 : 274-277, 2007.
 
19) Royo M, et al : Effects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein. Proteins 58 : 14-21, 2005.
PubMed
20) Stamelou M, et al : Myoclonus-dystonia syndrome dye to tyrosine hydroxylase deficiency. Neurology 79 : 435-441, 2012.
 
21) OMIM : #612719.
 
22) Niw DM : Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan. Brain Dev 33 : 847-855, 2011.
 
23) Roze E, et al : Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency. Mov Disord 21 : 263-266, 2006.
PubMed
24) Jaggi L, et al : Outcome and long-term follow-up 36 patients with tetrahydrobiopterin deficiency. Mol Genet Metab 93 : 295-305, 2008.
PubMed
P.243 掲載の参考文献
1) de Carvalho Aguiar P, et al : Mutations in the Na+ /K+-ATPase alpha-3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron 43 : 169-175, 2004.
 
2) Brashear A, et al : The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain 130 : 828-835, 2007.
PubMed
3) Anselm IA, et al : Rapid-onset dystonia-parkinsonism in a child with a novel ATP1A3 gene mutation. Neurology 73 : 400-401, 2009.
 
4) Blanco-Arias P, et al : A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism. Hum Mol Genet 18 : 2370-2377, 2009.
 
5) Ashmore LJ, et al : Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity. Hum Genet 126 : 431-447, 2009.
PubMed
6) DeAndrade MP, et al : Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism. Behav Brain Res 216 : 659-665, 2011.
PubMed
7) Heinzen EL, et al : De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet 44 : 1030-1034, 2012.
PubMed
8) Dobyns WB, et al : Rapid-onset dystonia-parkinsonism. Neurology 43 : 2596-2602, 1993.
PubMed
9) Camargos S, et al : DYT16, a novel young-onset dystonia-parkinsonism disorder : identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol 7 : 207-215, 2008.
PubMed
10) Seibler P, et al : A heterozygous frame shift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. Lancet Neurol 7 : 380-381, 2008.
 
11) Bragg DC, et al : Molecular pathways in dystonia. Neurobiol Dis 42 : 136-147, 2011.
PubMed
12) Peters GA, et al : The double-stranded RNA-binding protein, PACT, is required for postnatal anterior pituitary proliferation. Proc Natl Acad Sci USA 106 : 10696-10701, 2009.
PubMed
13) Bennett RL, et al : RAX is required for fly neuronal development and mouse embryogenesis. Mech Dev 125 : 777-785, 2008.
PubMed
14) Paquet C, et al : Neuronal phosphorylated RNA dependent protein kinase in Creutzfeldt-Jakob disease. J Neuropathol Exp Neurol 68 : 190-198, 2009.
PubMed
15) Camargos S, et al : DYT16 : the original cases. J Neurol Neurosurg Psychiatry 83 : 1012-1014, 2012.
 
P.248 掲載の参考文献
1) Nardocci N : Myoclonus-dystonia syndrome. In : Handbook of Clinical Neurology, Vol 100 (ed by Weiner WJ, Tolosa E), p 563-575, Elsevier, Edinburgh, 2011.
 
2) Quinn NP, et al : Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus : an area of confusion. Adv Neurol 50 : 391-400, 1988.
PubMed
3) Asmus F, Gsser T : Inherited myoclonus-dystonia. Adv Neurol 94 : 113-119, 2004.
 
4) Zimprich A, et al : Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 29 : 66-69, 2001.
PubMed
5) Esapa CT, et al : SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane : modulation by ubiquitination and torsin A. Hum Mol Genet 16 : 327-342, 2007.
 
6) Ritz K, et al : SGCE isoform characterization and expression in human brain : implications for myoclonus-dystonia pathogenesis? Eur J Hum Genet 19 : 438-444, 2011.
 
7) Yokoi F, et al : Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus -dystonia mouse models. Hum Mol Genet 21 : 916-925, 2012.
PubMed
8) Asmus F, et al : Myoclonus-dystonia syndrome : epsilon-sarcoglycan mutations and phenotype. Ann Neurol 52 : 489-492, 2002.
PubMed
9) Foncke EM, et al : Hereditary myoclonus-dystonia associated epilepsy. Neurology 60 : 1988-1990, 2003.
PubMed
10) Roze E, et al : Myoclonus-dystonia : clinical and electrophysiologic pattern related to SGCE mutations. Neurology 70 : 1010-1016, 2008.
PubMed
11) Azoulay-Zyss J, et al : Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due toε-sarcoglycan mutations : a pilot study. Arch Neurol 68 : 94-98, 2011.
 
12) Contarino MF : Clinical and genetic characterization of a large Dutch family with primary focal dystonia. Mov Disord 23 : 1998-2003, 2008.
PubMed
13) Han F, et al : Refinement of the DYT15 locus in myoclonus dystonia. Mov Disord 22 : 888-892, 2007.
PubMed
14) Grimes DA, et al : A novel locus for inherited myoclonus-dystonia on 18p11. Neurology 59 : 1183-1186, 2002.
PubMed
15) 豊島至 : 一次性遺伝性ジストニア. ジストニア 2012 (長谷川一子編), p 20-52, 中外医学社, 2012.
 
P.250 掲載の参考文献
1) Richards RN, Barnett HJ : Paroxysmal dystonic choreoathetosis. A family study and review of the literature. Neurology 18 (5) : 461-469, 1968.
PubMed
2) Mount LA, Reback S : Familial paroxysmal choreoathetosis : preliminary report on a hitherto undescribed clinical syndrome. Arch Neurol Psychiatry 44 : 841-847, 1940.
 
3) Fink JK, et al : Paroxysmal dystonic choreoathetosis : tight linkage to chromosome 2q. Am J Hum Genet 59 (1) : 140-145, 1996.
PubMed
4) Fouad GT, et al : A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am J Hum Genet 59 (1) : 135-139, 1996.
PubMed
5) Rainier S, et al : Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol 61 (7) : 1025-1029, 2004.
PubMed
6) Ghezzi D, et al : Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. Hum Mol Genet 18 (6) : 1058-1064, 2009.
PubMed
7) Lee HY, et al : The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet 13 (24) : 3161-3170, 2004.
 
8) Spacey SD, et al : Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia. Neurology 66 (10) : 1588-1590, 2006.
PubMed
P.253 掲載の参考文献
1) Smith LA, Heersema PH : Periodic dystonia. Mayo Clin Proc 16 : 842-846, 1941.
 
2) Kawarai T, et al : Dystonia genes and elucidation of their roles in dystonia pathogenesis. Rinsho Shinkeigaku 53 (6) : 419-429, 2013.
PubMed
3) Lance JW : Sporadic and familial varieties of tonic seizures. J Neurol Neurosurg Psychiatry 26 : 51-59, 1963.
PubMed
4) Tomita H, et al : Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am J Hum Genet 65 (6) : 1688-1697, 1999.
PubMed
5) Chen WJ, et al : Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 43 (12) : 1252-1255, 2011.
PubMed
6) Wang JL, et al : Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 134 (Pt12) : 3493-3501, 2011.
 
7) Meneret A, et al : PRRT2 mutations : a major cause of paroxysmal kinesigenic dyskinesia in the European population. Neurology 79 (2) : 170-174, 2012.
 
8) Ono S, et al : Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. J Hum Genet 57 (5) : 338-341, 2012.
PubMed
9) Schmidt A, et al : Two faces of the same coin : benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations. Arch Neurol 69 (5) : 668-670, 2012.
PubMed
10) Riant F, et al : PRRT2 mutations cause hemiplegic migraine. Neurology 79 (21) : 2122-2124, 2012.
PubMed
11) Gardiner AR, et al : PRRT2 gene mutations : from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology 79 (21) : 2115-2121, 2012.
PubMed
12) Valente EM, et al : A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain 123 (Pt10) : 2040-2045, 2000.
 
P.257 掲載の参考文献
1) Auburger G, et al : A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. Genomics 31 (1) : 90-94, 1996.
PubMed
2) Weber YG, et al : Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology 77 (10) : 959-964, 2011.
PubMed
3) Zorzi G, et al : Paroxysmal movement disorders in GLUT1 deficiency syndrome. Neurology 71 (2) : 146-148, 2008.
PubMed
4) Perez-Duenas B, et al : Childhood chorea with cerebral hypotrophy : a treatable GLUT1 energy failure syndrome. Arch Neurol 66 (11) : 1410-1414, 2009.
PubMed
5) Kawarai T, et al : Dystonia genes and elucidation of their roles in dystonia pathogenesis. Rinsho Shinkeigaku 53 (6) : 419-429, 2013.
PubMed
6) Plant GT, et al : Familial paroxysmal dystonia induced by exercise. J Neurol Neurosurg Psychiatry 47 (3) : 275-279, 1984.
PubMed
7) Wang D, et al : Glut-1 deficiency syndrome : clinical, genetic, and therapeutic aspects. Ann Neurol 57 (1) : 111-118, 2005.
PubMed
8) Overweg-Plandsoen WC, et al : GLUT-1 deficiency without epilepsy-an exceptional case. J Inherit Metab Dis 26 (6) : 559-563, 2003.
 
9) Brockmann K : The expanding phenotype of GLUT1-deficiency syndrome. Brain Dev 31 (7) : 545-552, 2009.
PubMed
10) Pascual JM, et al : GLUT1 deficiency and other glucose transporter diseases. Eur J Endocrinol 150 (5) : 627-633, 2004.
PubMed
11) Weber YG, et al : GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 118 (6) : 2157-2168, 2008.
 
P.262 掲載の参考文献
1) 長谷川一子 : ジストニアの疫学-神経内科専門医を対象とした全国調査-. 神経内科 67 : 53-56, 2007.
 
2) Tsubota K, et al : Dry eye and Meige's syndrome. Br J Ophthalmol 81 : 439-442, 1997.
PubMed
3) Defazio G, et al : Environmental risk factors and clinical phenotype in familial and sporadic primary blepharospasm. Neurology 77 : 631-637, 2011.
PubMed
4) Defazio G, Gigante AF : The environmental epidemiology of primary dystonia. Tremor Other Hyperkinet Mov (NY) 3.pii : tre-03-131-3076-1, 2013.
 
5) Golbe LI, et al : Eyelid movement abnormalities in progressive supranuclear palsy. Mov Disord 4 : 297-302, 1989.
PubMed
6) Defazio G, et al : Development and validation of a clinical guideline for diagnosing blepharospasm. Neurology 81 : 236-240, 2013.
PubMed
7) 清澤源弘, 若倉雅登 : 目がしょぼしょぼしたら-眼瞼けいれん? 正しい理解と最新の治療法, p 19, メディカル・パブリケーションズ, 2005.
 
8) Tan EK, Jankovic J : Tardive and idiopathic oromandibular dystonia : a clinical comparison. J Neurol Neurosurg Psychiatry 68 : 186-190, 2000.
PubMed
9) Watts MW, et al : Bruxism and cranio-cervical dystonia : is there a relationship? Cranio 17 : 196-201, 1999.
 
10) 小林武夫 (編) : 痙攣性発声障害 そのメカニズムと治療の現状 改訂新版, 時空出版, 2005.
 
11) Ankola A, et al : Laryngeal dystonia gravidarum : Sudden onset of adductor spasmodic dysphonia in pregnancy. Laryngoscope, 2013. [Epub ahead of print]
 
12) 小林武夫ほか : 喉頭ジストニア. ジストニアのすべて-最新の治療指針- (梶龍兒編), p 24-28, 診断と治療社, 2013.
 
13) Hallett M, et al : Evidence-based review and assessment of botulinum neurotoxin for the treatment of movement disorders. Toxicon 67 : 94-114, 2013.
PubMed
P.266 掲載の参考文献
1) 長谷川一子 : ジストニアの疫学-神経内科専門医を対象とした全国調査-. 神経内科 67 : 53-56, 2007.
 
2) Jog M, et al : Causes for treatment delays in dystonia and hemifacial spasm : a Canadian survey. Can J Neurol Sci 38 : 704-711, 2011.
PubMed
3) Jankovic J, et al : Rationale and design of a prospective study : Cervical Dystonia Patient Registry for Observation of OnaBotulinumtoxinA Efficacy (CD PROBE). BMC Neurol 11 : 140, 2011.
PubMed
4) Defazio G, Gigante AF : The environmental epidemiology of primary dystonia. Tremor Other Hyperkinet Mov (NY) 3.pii : tre-03-131-3076-1, 2013.
 
5) 片山真理, 梶龍兒 : ジストニアの現状と予防策-ジストニアと職業病 (労災) との関係について. 企業福祉 16 : 6-10, 1993.
 
6) 玉川聡ほか : 職業性ジストニア. ジストニア2012 (長谷川一子編), p 94-96, 中外医学社, 2012.
 
7) Fasano A, et al : Dystonia gravidarum : a new case with a long follow-up. Mov Disord 22 : 564-566, 2007.
PubMed
8) Albanese A, et al : Phenomenology and classification of dystonia : a consensus update. Mov Disord 28 : 863-873, 2013.
PubMed
9) 目崎高広 : ジストニアの病態と治療. 臨床神経 51 : 465-470, 2011.
 
10) Mezaki T : Dystonia redefined as central non-paretic loss of control of muscle action : A concept including inability to activate muscles required for a specific movement, or 'negative dystonia'. Med Hypotheses 69 : 1309-1312, 2007.
PubMed
11) 目崎高広, 梶龍兒 : ジストニアとボツリヌス治療 改訂第2版, p 125, 診断と治療社, 2005.
 
12) van Harten PN, et al : The course of tardive dystonia in Afro Caribbean patients, a population-based study : the Curacao extrapyramidal syndromes study : VII. Schizophr Res 98 : 79-83, 2008.
PubMed
13) Ta JH, Krishnan M : Management of congenital muscular torticollis in a child : a case report and review. Int J Pediatr Otorhinolaryngol 76 : 1543-1546, 2012.
 
14) Tsui JKC, et al : Double-blind study of botulinum toxin in spasmodic torticollis. Lancet 2 : 245-247, 1986.
 
15) Consky ES, Lang AE : Clinical assessments of patients with cervical dystonia. In : Therapy with Botulinum Toxined (by Jankovic J, Hallett M), p 211-237, Marcel Dekker, New York, 1994.