spinocerebellar ataxia type 15 (SCA-15)
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Epidemiology
- identified in Australian & Japanese families
Genetics
- linked to gene on chromosome 3p26.1-25.3*
- presumably CAG repeat expanstion of SCA15 gene
- associated with defects in ITPR1
* a non progressive cerebellar ataxia, congenital onset, with cognitive impairment overlaps with SCA15, may represent a variant or separate entity
Clinical manifestations
- slowly progressive cerebellar ataxia*
- onset childhood to middle-age
- most patients remain ambulatory
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
- ↑ PubMed Search PubMed search: spinocerebellar+ataxia+type+15