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spinocerebellar ataxia type 2 (SCA-2); olivopontocerebellar atrophy, Holguin type
Epidemiology:
- 6-18% of spinocerebellar ataxias
Pathology:
- pigmented maculopathy with or without
a) ophthalmoplegia
b) extrapyramidal signs
Genetics:
- mutation of SCA2 gene
- presumably trinucleotide CAG repeat expansion (poly-Gln) in SCA2 gene
Clinical manifestations:
1) slow saccadic eye movements
2) may present in early infancy
- hypotonia, developmental delay, dysphagia, retinitis pigmentosa
3) may present in late adulthood
- ataxia, slow saccades, hyporeflexia
4) cognitive impairment has been described
5) chorea & dystonia have been described
Laboratory:
Radiology:
- magnetic resonance imaging
a) cerebellar atrophy most prominent among spinocerebellar ataxias
b) cerebral atrophy with ventricular enlargement may be seen
c) brainstem atrophy
Interactions
disease interactions
General
olivopontocerebellar atrophy (OPCA) or degeneration (OPCD); multiple system atrophy, cerebellar subtype
polyglutamine expansion disorder
spinocerebellar ataxia (SCA)
Database Correlations
OMIM correlations
Entrez Gene 6311
References
- Duenas AM et al,
Molecular pathogenesis of spinocerebellar ataxias.
Brain. 2006, 120:1357
PMID: 16613893
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PubMed search: spinocerebellar+ataxia+type+2