spinocerebellar ataxias
cerebellar ataxias
Hereditary spinocerebellar ataxias are a clinically and genetically heterogeneous group of neurodegenerative disorders for which more than 14 different genetic loci have been identified.
Classification
dominant nonepisodic cerebellar ataxia
Etiology
In some SCA types, expanded tri- or pentanucleotide repeats have been identified, and the length of these expansions correlates with the age at onset and with the severity of the clinical phenotype.
autosomal dominant cerebellar ataxia
- mutation in the fibroblast growth factor 14 gene (13q34)(#12489043#)
autosomal dominant nonepisodic cerebellar ataxia
- missense mutations in the regulatory domain of PKC gamma
References
Orr HT, Zoghbi HY. SCA1 molecular genetics: a history of a 13 year collaboration against glutamines. Hum Mol Genet. 2001 Oct 1;10(20):2307-11. PMID: #11673415#
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