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spinocerebellar ataxia type 28 (SCA-28)

Epidemiology: - single Italian family Genetics: - linked to gene on chromosome 18p11.22-q11.2 Clinical manifestations: 1) mean age of onset 19-20 years 2) slowly progressive cerebellar ataxia 2) eye movement abnormalities 3) pyramidal tract signs (variable)

General

spinocerebellar ataxia (SCA)

References

  1. Duenas AM et al, Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006, 120:1357 PMID: 16613893
  2. Koeppen AH et al, The pathogenesis of spinocerebellar ataxia. Cerebellum 2005, 4:62 PMID: 15895563
  3. UpToDate version 14.2
  4. PubMed Search PubMed search: spinocerebellar+ataxia+type+28