spinocerebellar ataxia type 6 (SCA-6)

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Genetics

Clinical manifestations

  • cerebellar ataxia
  • relatively mild symptoms, slow progression
  • generally presents age 20-60 years

Laboratory

Radiology

More general terms

References

  1. Zhuchenko et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansion in the alpha 1A-voltage-dependent calcium channel Nature Genet 15:62-9, 1997 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8988170
  2. Duenas AM et al, Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006, 120:1357 PMID: https://www.ncbi.nlm.nih.gov/pubmed/16613893
  3. Koeppen AH et al, The pathogenesis of spinocerebellar ataxia. Cerebellum 2005, 4:62 PMID: https://www.ncbi.nlm.nih.gov/pubmed/15895563
  4. UpToDate version 14.2
  5. PubMed Search PubMed search: spinocerebellar+ataxia+type+6

Database