spinocerebellar ataxia type 14 (SCA-14)
Jump to navigation
Jump to search
Genetics
- autosomal dominant
- mutation in gene for protein kinase C gamma
- NOT trinucleotide repeat expression
Clinical manifestations
- early onset
- intermittent myoclonus, followed by cerebellar ataxia
- late onset > 40 years of age
- slow progression
Laboratory
* relevance in question (see genetics); only related Loinc found
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+14