Spinocerebellar Ataxia 11 (SCA11)

Hema Vakharia, Min-Kyu Oh, Stefan M. Pulst

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Autosomal dominant cerebellar ataxia type III is characterized by a slowly progressing, often mild, and late onset cerebellar syndrome without a major involvement of other neurological systems. Although the nature of the mutation is not yet identified, the clinical features included gait ataxia, dysarthria, horizontal nystagmus, and hyperreflexia. Adult-onset ataxia with predominantly cerebellar features (ADCA type III) is associated with a number of gene mutations. When familial, this phenotype is most commonly due to mutations in the CACNAIA gene (SCA6). But mutations in the SCA5 and 8 genes have also been associated with pure cerebellar ataxia, variably associated with pyramidal findings. Linkage and mutational analysis shows that the disease allele identified is unlinked to any other known SCAs. A number of expressed sequence tags (ESTs) and known genes are mapped to this region, but SCA11 has not yet been isolated.

Original languageEnglish
Title of host publicationGenetics of Movement Disorders
PublisherElsevier Inc.
Pages117-119
Number of pages3
ISBN (Print)9780125666527
DOIs
Publication statusPublished - 2003 Dec 1
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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  • Cite this

    Vakharia, H., Oh, M-K., & Pulst, S. M. (2003). Spinocerebellar Ataxia 11 (SCA11). In Genetics of Movement Disorders (pp. 117-119). Elsevier Inc.. https://doi.org/10.1016/B978-012566652-7/50014-9