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spinocerebellar ataxia type 6 (SCA-6)
Genetics:
1) CAG trinucleotide repeat expansion in CACNA1A gene
2) autosomal dominant
Clinical manifestations:
1) cerebellar ataxia
2) relatively mild symptoms, slow progression
3) generally presents age 20-60 years
Laboratory:
- CACNA1A gene CAG repeats in blood/tissue
Radiology:
- magnetic resonance imaging
- cerebellar atrophy
General
polyglutamine expansion disorder
spinocerebellar ataxia (SCA)
Database Correlations
OMIM correlations
MORBIDMAP 601011
References
- Zhuchenko et al.
Autosomal dominant cerebellar ataxia (SCA6) associated with small
polyglutamine expansion in the alpha 1A-voltage-dependent calcium
channel
Nature Genet 15:62-9, 1997
PMID: 8988170
- 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+6