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Hereditary ataxias: overview.

Abstract

The hereditary ataxias are a highly heterogeneous group of disorders phenotypically characterized by gait ataxia, incoordination of eye movements, speech, and hand movements, and usually associated with atrophy of the cerebellum. There are more than 35 autosomal dominant types frequently termed spinocerebellar ataxia and typically having adult onset. The most common subtypes are spinocerebellar ataxia 1, 2, 3, 6, and 7, all of which are nucleotide repeat expansion disorders. Autosomal recessive ataxias usually have onset in childhood; the most common subtypes are -Friedreich, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1, and ataxia with oculomotor apraxia type 2. Four autosomal recessive types have dietary or biochemical treatment modalities (ataxia with vitamin E deficiency, cerebrotendinous xanthomatosis, Refsum, and coenzyme Q10 deficiency), whereas there are no specific treatments for other ataxias. Diagnostic genetic testing is complicated because of the large number of relatively uncommon subtypes with extensive phenotypic overlap. However, the best testing strategy is based on assessing relative frequencies, ethnic predilections, and recognition of associated phenotypic features such as seizures, visual loss, or associated movement abnormalities.

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  • Publisher Full Text
  • Authors+Show Affiliations

    ,

    Department of Neurology, University of Washington, Seattle, Washington, USA.

    Source

    MeSH

    Adult
    Age of Onset
    Child
    Female
    Genes, Dominant
    Genes, Recessive
    Genetic Counseling
    Genetic Testing
    Humans
    Phenotype
    Spinocerebellar Degenerations
    Trinucleotide Repeat Expansion

    Pub Type(s)

    Journal Article
    Research Support, Non-U.S. Gov't
    Research Support, U.S. Gov't, Non-P.H.S.
    Review

    Language

    eng

    PubMed ID

    23538602

    Citation

    TY - JOUR T1 - Hereditary ataxias: overview. AU - Jayadev,Suman, AU - Bird,Thomas D, Y1 - 2013/03/28/ PY - 2012/11/8/received PY - 2013/2/7/accepted PY - 2013/3/28/aheadofprint PY - 2013/3/30/entrez PY - 2013/3/30/pubmed PY - 2014/3/13/medline SP - 673 EP - 83 JF - Genetics in medicine : official journal of the American College of Medical Genetics JO - Genet. Med. VL - 15 IS - 9 N2 - The hereditary ataxias are a highly heterogeneous group of disorders phenotypically characterized by gait ataxia, incoordination of eye movements, speech, and hand movements, and usually associated with atrophy of the cerebellum. There are more than 35 autosomal dominant types frequently termed spinocerebellar ataxia and typically having adult onset. The most common subtypes are spinocerebellar ataxia 1, 2, 3, 6, and 7, all of which are nucleotide repeat expansion disorders. Autosomal recessive ataxias usually have onset in childhood; the most common subtypes are -Friedreich, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1, and ataxia with oculomotor apraxia type 2. Four autosomal recessive types have dietary or biochemical treatment modalities (ataxia with vitamin E deficiency, cerebrotendinous xanthomatosis, Refsum, and coenzyme Q10 deficiency), whereas there are no specific treatments for other ataxias. Diagnostic genetic testing is complicated because of the large number of relatively uncommon subtypes with extensive phenotypic overlap. However, the best testing strategy is based on assessing relative frequencies, ethnic predilections, and recognition of associated phenotypic features such as seizures, visual loss, or associated movement abnormalities. SN - 1530-0366 UR - https://www.unboundmedicine.com/medline/citation/23538602/Hereditary_ataxias:_overview_ L2 - http://dx.doi.org/10.1038/gim.2013.28 ER -