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References OMIM Gene GeneReviews HGMD HGNC
last update : 04-12-2014
Symbol SCAR14
Location 11q13.2
Name spinocerebellar ataxia, autosomal recessive 14
Corresponding gene SPTBN2
Main clinical features
  • neurologic disorder characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability
  • severely delayed motor development, gait ataxia and dysmetria and dysdiadochokinesis of the limbs
  • CT scans of the older patients showed progressive cerebellar atrophy, whereas CT of the youngest patient showed mild hypoplasia of the posterior corpus callosum
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease