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olivopontocerebellar atrophy type 1 (Menzel type); spinocerebellar ataxia type 1 (SCA-1)
Pathology:
1) mutant ataxin-1 aggregates into single nuclear inclusion
2) cerebellar Purkinje cells major site of involvement
Genetics:
1) CAG repeat expansion in SCA1 gene
2) tissue-specific & brain region-specific CAG repeat expansion
Clinical manifestations:
1) generally presents between ages 20-30
2) variability in onset & clinical variability
3) progressive cerebellar ataxis
4) dysarthria
5) bulbar signs
6) hyperreflexia
7) positive Babinski sign
8) muscle wasting in extremities may occur
9) fasciculations may occur
10) sensory & upper motor neuron signs present
Laboratory:
- SCA1 gene CAG repeats
Interactions
disease interactions
General
olivopontocerebellar atrophy (OPCA) or degeneration (OPCD); multiple system atrophy, cerebellar subtype
polyglutamine expansion disorder
spinocerebellar ataxia (SCA)
Database Correlations
OMIM 164400
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
- OMIM :accession 164400
- UpToDate version 14.2
- PubMed Search
PubMed search: spinocerebellar+ataxia+type+1