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spinocerebellar ataxia type 8 (SCA-8)
Pathology:
- CAG repeat expansion in ATXN8 gene, which is translated into a nearly pure polyglutamine protein which forms 1C2-positive inclusions in Purkinje cells & other neurons
Genetics:
- autosomal dominant
- associated with defects in ATXN8 gene
- trinucleotide repeat expansion (CAG repeat expansion) in in ATXN8 (SCA8) gene
Clinical manifestations:
1) difficult to distinguish clinically from other spinocerebellar ataxias
2) slowly progressive cerebellar ataxia
3) dysphagia
4) dysarthria
5) abnormal eye movements
Laboratory:
- SCA8 gene CAG repeats
General
spinocerebellar ataxia (SCA)
Database Correlations
OMIM correlations
Entrez Gene 6315
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
- UpToDate version 14.2
- OMIM :accession 608768
- PubMed Search
PubMed search: spinocerebellar+ataxia+type+8