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spinocerebellar ataxia type 15 (SCA-15)

Epidemiology: - identified in Australian & Japanese families Genetics: - linked to gene on chromosome 3p26.1-25.3* - presumably CAG repeat expanstion of SCA15 gene - associated with defects in ITPR1 * a non progressive cerebellar ataxia, congenital onset, with cognitive impairment overlaps with SCA15, may represent a variant or separate entity Clinical manifestations: 1) slowly progressive cerebellar ataxia* 2) onset childhood to middle-age 3) most patients remain ambulatory Laboratory: - SCA15 gene CAG repeats

General

spinocerebellar ataxia (SCA)

Database Correlations

OMIM 606658 Entrez Gene 140449

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+15