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spinocerebellar ataxia type 10 (SCA-10)

Epidemiology: - Mexican, Brazilian families Pathology: - degeneration of the cerebellum with variable involvement of the brainstem & spinal cord Genetics: - autosomal dominant - trinucleotide repeat expansion, gene on chromosome 22q13-qter - ATTCT repeat expansion in intron 9 of SCA10 gene encoding ataxin-10 Clinical manifestations: 1) cerebellar ataxia - progressive incoordination of gait & often poor coordination of hands, speech & eye movements 2) seizures in Mexican families Laboratory: - SCA10 gene CAG repeats

General

spinocerebellar ataxia (SCA)

Database Correlations

OMIM 603516 Entrez Gene 9490

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+10