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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-10-2016
Symbol SCAR24
Location 3q22.1
Name spinocerebellar ataxia, autosomal recessive 24
Corresponding gene UBA5
Main clinical features
  • onset of gait instability and speech difficulties in infancy; markedly delayed growth in childhood but normal body size as adults; no cognitive involvement
  • clinical features included gait and limb ataxia, dysarthria, nystagmus, and cataracts
  • brain imaging showed cerebellar atrophy
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease