KEGG DISEASE: 脆弱Ｘ症候群関連疾患

DISEASE: 脆弱Ｘ症候群関連疾患

エントリ

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

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
  遺伝子変異を除く染色体異常
   性染色体異常
    LD55  脆弱X染色体
     H01731  脆弱Ｘ症候群関連疾患
指定難病 [jp08407.html]
H01731

パスウェイ

hsa03013

Nucleocytoplasmic transport

病因遺伝子

FMR1 [HSA:2332] [KO:K15516]

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:

ICD-10:

MeSH:

OMIM:

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

文献

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

LinkDB

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