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References OMIM Gene GeneReviews HGMD HGNC
last update : 04-11-2009
Symbol SCA4
Location 16q22.1
HGNC id 10557
Name spinocerebellar ataxia 4
Other name(s) spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy
Corresponding gene PLEKHG4
Other symbol(s) ADCA3
Main clinical features
  • cerebellar atrophy type I
  • ataxia, dysarthria, dysmetria, intention tremor associated with/without sensory neuropathy, progressive sensorineural hearing impairment
  • ataxia is the most common initial symptom; elderly patients over 65 occasionally showed abnormalities in tendon reflexes, involuntary movements, and reduced vibration sense (Nozaki 2007)
  • Genetic determination autosomal dominant
    Related entries including spinocerebellar ataxia 4, pure, Japanese (OMIM : 117210)
    Function/system disorder neurology
    Type disease
    Gene product
    Name puratrophin 1
    Gene mutationChromosome rearrangementEffectComments
    missense     16C>T substitution , mostly frequent