| H01731 | |
| H number | H01731 |
| Name | Fragile X tremor/ataxia syndrome |
| Description | 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. |
| Category | Chromosomal abnormality |
| Network | - |
| Gene | FMR1 [HSA:2332] [KO:K15516] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | 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) |
| Other DBs | ICD-11: LD55 ICD-10: Q99.2 MeSH: C564105 OMIM: 300623 |
| Reference | PMID:18057320 AUTHORS 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 TITLE FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. JOURNAL Neurology 70:1397-402 (2008) DOI:10.1212/01.wnl.0000281692.98200.f5 PMID:24491663 AUTHORS Niu YQ, Yang JC, Hall DA, Leehey MA, Tassone F, Olichney JM, Hagerman RJ, Zhang L TITLE Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited. JOURNAL Parkinsonism Relat Disord 20:456-9 (2014) DOI:10.1016/j.parkreldis.2014.01.006 |