spinocerebellar ataxia type 17 (SCA-17)
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Epidemiology
- identified in 4 Japanese families
Genetics
- autosomal dominant
- CAG trinculeotide repeat expansion in gene for TATA-binding protein
- 4-35 repeats is normal
- 37 to >200 repeats in SCA17
Clinical manifestations
- onset 19-48 years of age
- cerebellar ataxia
- dementia
- progresses to bradykinesia, dysmetria, dysdiadokokinesis, hyperreflexia
- eye movements are normal
Laboratory
Radiology
- magnetic resonance imaging shows diffuse cortical atrophy, cerebellar atrophy
More general terms
Additional 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+17