spinocerebellar ataxia type 8 (SCA-8)
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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
- difficult to distinguish clinically from other spinocerebellar ataxias
- slowly progressive cerebellar ataxia
- dysphagia
- dysarthria
- abnormal eye movements
Laboratory
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
- ↑ OMIM https://mirror.omim.org/entry/608768
- ↑ PubMed Search PubMed search: spinocerebellar+ataxia+type+8