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spinocerebellar ataxia type 5 (SCA-5)
Genetics:
1) autosomal dominant
2) trinucleodide repeat expansion in SCA5 gene
- centromeric region of chromosome 11
3) associated with defects in SPTBN2
Clinical manifestations:
1) cerebellar ataxia
2) ocular manifestations:
a) downbeat nystagmus (most consistent clinical feature)
b) impaired smooth pursuit
3) gait, stance, & limb ataxia
4) dysarthria
5) intention tremor, resting tremor
2) relatively mild symptoms, slow progression
3) generally presents age 20-30 years; range 10-50 years
Radiology:
- magnetic resonance imaging
- cerebellar atrophy
General
spinocerebellar ataxia (SCA)
Database Correlations
OMIM 600224
Entrez Gene 6313
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
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PubMed search: spinocerebellar+ataxia+type+5