spinocerebellar ataxia type 27 (SCA-27)
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Epidemiology
- single Dutch family, German family
Genetics
- linked to mutation in FGF14 gene on chromosome 13q34
Clinical manifestations
- slowly progressive cerebellar ataxia
- early onset tremor
- dyskinesia
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
- ↑ OMIM https://mirror.omim.org/entry/609307