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References OMIM Gene GeneReviews HGMD HGNC
last update : 10-02-2022
Symbol SCA46
Location 19q13.2
Name spinocerebellar ataxia 46
Corresponding gene PLD3
Main clinical features
  • adult-onset sensory ataxic neuropathy with cerebellar signs
  • swaying during walking in the dark, and alsooculomotor abnormalities and also distal sensory impairment in a stocking and glove pattern, but predominantly affecting the lower limbs
  • sensory ataxia due to a sensory axonal polyneuropathy, slowly progressive.
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease