spinocerebellar ataxia type 13 (SCA-13)
Jump to navigation
Jump to search
Pathology
- cerebellar ataxia
- variable involvement of the brainstem & spinal cord
Genetics
- autosomal dominant
- trinucleotide expansion in gene on chromosome 19q13
- associated with defects in KCNC3
Clinical manifestations
- progressive incoordination of gait
- often poor coordination of hands, speech & eye movements
- slow progression
- variable age at onset, ranging from childhood to late adulthood
- mental retardation can be present in some patients
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+13