spinocerebellar ataxia type 10 (SCA-10)
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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
- cerebellar ataxia
- progressive incoordination of gait & often poor coordination of hands, speech & eye movements
- seizures in Mexican families
Laboratory
More general terms
References
- ↑ Duenas AM et al, Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006, 120:1357 PMID: https://www.ncbi.nlm.nih.gov/pubmed/16613893
- ↑ Koeppen AH et al, The pathogenesis of spinocerebellar ataxia. Cerebellum 2005, 4:62 PMID: https://www.ncbi.nlm.nih.gov/pubmed/15895563
- ↑ UpToDate version 14.2
- ↑ PubMed Search PubMed search: spinocerebellar+ataxia+type+10