spinocerebellar ataxia type 5 (SCA-5)
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Genetics
- autosomal dominant
- trinucleodide repeat expansion in SCA5 gene
- centromeric region of chromosome 11
- associated with defects in SPTBN2
Clinical manifestations
- cerebellar ataxia
- ocular manifestations:
- downbeat nystagmus (most consistent clinical feature)
- impaired smooth pursuit
- gait, stance, & limb ataxia
- dysarthria
- intention tremor, resting tremor
- relatively mild symptoms, slow progression
- generally presents age 20-30 years; range 10-50 years
Radiology
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
- ↑ PubMed Search PubMed search: spinocerebellar+ataxia+type+5