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GENATLAS PHENOTYPE
last update : 01-12-2010
Symbol SCA23
Location 20p13
HGNC id 19051
Name spinocerebellar ataxia 23
Corresponding gene PDYN
Main clinical features
  • late-onset (>40 years), slowly progressive, isolated spinocerebellar ataxia (SCA), at neuropathological examination neuronal loss in the Purkinje cell layer, dentate nuclei and inferior olives, thinning of cerebellopontine tracts, demyelination of posterior and lateral columns in the spinal cord
  • distal sensory neuropathy and pyramidal signs, proximal paresis of the legs, and tremors of the head and upper limbs
    • Genetic determination autosomal dominant
    Prevalence 0.5% of all SCAs (PMID: 21035104)
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s) . three mutations identified in SCA23 families alter the amino acid sequence of Dyn A in a domain associated with non-receptor-mediated, neurodegenerative actions (PMID: 21035104))