spinocerebellar ataxias
cerebellar ataxias, SCAs
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
21 identified loci
| SCA1 | SCA2 | SCA3 | SCA4 | SCA5 | SCA6 | SCA7 | SCA8 | SCA9 | SCA10 |
| SCA11 | SCA12 | SCA13 | SCA14 | SCA15 | SCA16 | SCA17 | SCA18 | SCA19 | SCA20 |
| SCA21 |
Etiology
In some SCAs, 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
Videos
Mouse model of spinocerebellar ataxia
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