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spinocerebellar ataxia type 14 (SCA-14)
Genetics:
1) autosomal dominant
2) mutation in gene for protein kinase C gamma
3) NOT trinucleotide repeat expression
Clinical manifestations:
1) early onset
- intermittent myoclonus, followed by cerebellar ataxia
2) late onset > 40 years of age
- cerebellar ataxia
3) slow progression
Laboratory:
- PRKCG gene CAG repeats*
* relevance in question (see genetics); only related Loinc found
General
spinocerebellar ataxia (SCA)
Database Correlations
OMIM correlations
MORBIDMAP 176980
Entrez Gene 57013
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
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PubMed search: spinocerebellar+ataxia+type+14