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References OMIM Gene GeneReviews HGMD HGNC
last update : 07-12-2015
Symbol SCA42
Location 17q21.33
Name spinocerebellar ataxia 42
Corresponding gene CACNA1G
Main clinical features
  • age of onset varied widely from 9 to 78 years; gait instability was the major manifesting symptom; even after decades of progression, the disability and symptoms remained mild to moderate, indicating stable cerebellar involvement
  • ocular signs, including saccadic pursuit, horizontal nystagmus, and transient diplopia, were often noted
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Remark(s) . a common variant affecting an arginine residue in the voltage sensor S4 segment of domain IV in CACNA1G segregates with the disease (PMID: 26456284))