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GENATLAS PHENOTYPE
last update : 21-05-2019
Symbol SCA5
Location 11q13.2
HGNC id 10558
Name spinocerebellar ataxia 5
Corresponding gene SPTBN2
Main clinical features
  • Indiana and Kentucky families, with a predominant cerebellar phenotype (autosomal dominant cerebellar atrophy "pure", tye III), age at onset varies from 15 to 50 years, purely cerebellar syndrome with a downbeat nystagmus occurring prior to the development of other features; on MRI cortical cerebellar atrophy
    • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense      
    Remark(s)