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spinocerebellar ataxia type 13 (SCA-13)

Pathology: - cerebellar ataxia - variable involvement of the brainstem & spinal cord Genetics: - autosomal dominant - trinucleotide expansion in gene on chromosome 19q13 - associated with defects in KCNC3 Clinical manifestations: - progressive incoordination of gait - often poor coordination of hands, speech & eye movements - slow progression - variable age at onset, ranging from childhood to late adulthood - mental retardation can be present in some patients

General

spinocerebellar ataxia (SCA)

Database Correlations

OMIM 605259 Entrez Gene 57363

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+13