KEGG   DISEASE: Fragile X tremor/ataxia syndromeHelp
Entry
H01731                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Chromosomal abnormalities
   H01731  Fragile X tremor/ataxia syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Chromosomal anomalies, excluding gene mutations
   Sex chromosome anomalies
    LD55  Fragile X chromosome
     H01731  Fragile X tremor/ataxia syndrome
BRITE hierarchy
Pathway
hsa03013  RNA transport
Gene
FMR1 [HSA:2332] [KO:K15516]
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
  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
Reference
  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

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