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GENATLAS PHENOTYPE
last update : 31-05-2017
Symbol SCA2
Location 12q24.12
Name spinocerebellar ataxia 2
Other name(s)
  • spinocerebellar atrophy II
  • olivopontocerebellar atrophy, holguin type
  • spinocerebellar ataxia, Cuban type
  • Wadia-Swami syndrome
  • spinocerebellar degeneration with slow eye movements
    • Corresponding gene ATXN2
    Other symbol(s) SDSEM, OPCA2
    Main clinical features
  • anticipation, ataxia, dysarthria, dysmetria, intention tremor, pyramidal and extrapyramidal symptoms, commonly associated
  • developmental delay in infancy, frontal-executive dysfunction and with neuronal intranuclear inclusions in any cases
  • significant impairment on all olfactory measurements
  • also cases with cognitive regression in childhood (PMID: 18344458))
  • choreoathetotic movements, myoclonic jerk, gait difficulty, expressionless face and emotional liability associated or not with polyphagia (PMID: 18297329))
    • Genetic determination autosomal dominant
    Related entries . including forms with ophthalmoplegia/slow eye movements, retinal/macular degeneration (ADCA, type II)
    Function/system disorder neurology
    eye
    Type disease
    Gene product
    Name ataxin 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    repeat expansion   other triplet (CAG) repeats, moderate amplification (34 to 200), unstable in the brain (somatic mosaicism), or highly amplified in infantile or juvenile-onset spinal cerebellar ataxia (130 to 200)
    Remark(s)