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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 27-08-2014
Symbol SCA19
Location 1p13.2
HGNC id 17033
Name spinocerebellar ataxia 19
Corresponding gene KCND3
Other symbol(s) SCA22
Main clinical features
  • age at onset ranged from 10 to 46 years, with gait ataxia and variable features of dysarthria and hyporeflexia, slowly progressive, pure cerebellar ataxia
  • cognitive impairment, myoclonus and a postural irregular tremor of low frequency
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease