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GENATLAS PHENOTYPE
last update : 31-03-2021
Symbol SCAR8
Location 6q25.2
Name spinocerebellar autosomal recesssive 8
Other name(s) recessive ataxia of Beauce
Corresponding gene SYNE1
Other symbol(s) ARCA1
Main clinical features
  • pure cerebellar ataxia, late-onset, slow progression, with dysarthria, dysmetria, and minor abnormalities in saccades and smooth pursuit
  • age at onset is highly variable, and but most often is in the second or third decades
  • brain imaging typically shows cerebellar atrophy, sometimes with pontine involvement; rare patients may have an early-onset multisystemic disorder with impaired intellectual development and respiratory dysfunction
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Remark(s)