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last update : 27-08-2014
Symbol SCA38
Location 6p12
Name spinocerebellar ataxia-38
Corresponding gene ELOVL5
Main clinical features
  • pure form of autosomal dominant spinocerebellar ataxia
  • walking difficulties due to gait ataxia between 34 and 51 years of age with nystagmus, slow saccades, dysarthria, and limb ataxia; slowly progressive evolution with preserved cognition
  • mild to moderate axonal neuropathy
  • Genetic determination autosomal dominant
    Prevalence incidence of <1p100 among European individuals affected by an autosomal-dominant ataxia (PMID: 25065913)
    Function/system disorder neurology
    Type disease
  • mutant proteins had a less diffuse ER signal compared to wildtype, and tended to accumulate in the Golgi apparatus