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References OMIM Gene GeneReviews HGMD HGNC
last update : 04-12-2014
Symbol SCAR15
Location 3q29
Name spinocerebellar ataxia, autosomal recessive 15
Corresponding gene RUBCN
Main clinical features
  • onset of cerebellar ataxia in early childhood, delayed motor development with delayed walking and also severe form of the disorder, with an unsteady gait apparent since learning to walk
  • dysarthria, upper limb involvement, abnormal eye movements, and hyporeflexia, also epilepsy
  • brain MRI was normal or with mild cerebellar atrophy
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease