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spinocerebellar ataxia type 11 (SCA-11)
Genetics:
- autosomal dominant
- trinucleotide repeat expansion, chromosome 15q14-q21
- associated with defects in TTBK2
Clinical manifestations:
- mild, late-onset, cerebellar ataxia
General
spinocerebellar ataxia (SCA)
Database Correlations
OMIM 604432
Entrez Gene 10977
References
- Duenas AM et al,
Molecular pathogenesis of spinocerebellar ataxias.
Brain. 2006, 120:1357
PMID: 16613893
- Koeppen AH et al,
The pathogenesis of spinocerebellar ataxia.
Cerebellum 2005, 4:62
PMID: 15895563
- UpToDate version 14.2
- Worth PF et al,
Autosomal dominant cerebellar ataxia type III: linkage in a large
British family to a 7.6-cM region on chromosome 15q14-21.3
Am J Human Genet 1999, 65:420
PMID: 10417284
- PubMed Search
PubMed search: spinocerebellar+ataxia+type+11