spinocerebellar ataxia type 11 (SCA-11)
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Genetics
- autosomal dominant
- trinucleotide repeat expansion, chromosome 15q14-q21
- associated with defects in TTBK2
Clinical manifestations
- mild, late-onset, cerebellar ataxia
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
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/10417284
- ↑ PubMed Search PubMed search: spinocerebellar+ataxia+type+11