| H01731 | |
| H番号 | H01731 |
| 名称 | 脆弱Ｘ症候群関連疾患; 脆弱X随伴振戦／失調症候群 |
| 概要 | Fragile X tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder affecting carriers of premutation CGG repeat expansions (range: 55-200) in the fragile X mental retardation 1 (FMR1) gene. Common manifestations of FXTAS are progressive intention tremor, cerebellar gait ataxia, parkinsonism, working memory impairment, and frontal executive dysfunction. FXTAS occurs predominantly in men over age 50 years. |
| カテゴリ | 染色体異常 |
| ネットワーク | - |
| 病因遺伝子 | FMR1 [HSA:2332] [KO:K15516] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | See also H00465 Fragile X syndrome (FXS). (FXR) Full mutation expansions (>200 CGG repeats) (FXTAS) Smaller expansions in the premutation range (55-200 CGG repeats) |
| リンク | ICD-11: LD55 ICD-10: Q99.2 MeSH: C564105 OMIM: 300623 |
| 文献 | PMID:18057320 著者 Leehey MA, Berry-Kravis E, Goetz CG, Zhang L, Hall DA, Li L, Rice CD, Lara R, Cogswell J, Reynolds A, Gane L, Jacquemont S, Tassone F, Grigsby J, Hagerman RJ, Hagerman PJ タイトル FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. 雑誌 Neurology 70:1397-402 (2008) DOI:10.1212/01.wnl.0000281692.98200.f5 PMID:24491663 著者 Niu YQ, Yang JC, Hall DA, Leehey MA, Tassone F, Olichney JM, Hagerman RJ, Zhang L タイトル Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited. 雑誌 Parkinsonism Relat Disord 20:456-9 (2014) DOI:10.1016/j.parkreldis.2014.01.006 |