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    Lancet. 2007 Jan 20;369(9557):218-28.

    Huntington's disease.

    Source

    Department of Neurology, Wake Forest University, Medical Center Blvd, Winston Salem, NC 27157, USA. fwalker@wfubmc.edu

    Abstract

    Huntington's disease is an autosomal-dominant, progressive neurodegenerative disorder with a distinct phenotype, including chorea and dystonia, incoordination, cognitive decline, and behavioural difficulties. Typically, onset of symptoms is in middle-age after affected individuals have had children, but the disorder can manifest at any time between infancy and senescence. The mutant protein in Huntington's disease--huntingtin--results from an expanded CAG repeat leading to a polyglutamine strand of variable length at the N-terminus. Evidence suggests that this tail confers a toxic gain of function. The precise pathophysiological mechanisms of Huntington's disease are poorly understood, but research in transgenic animal models of the disorder is providing insight into causative factors and potential treatments.

    PMID:
    17240289
    [PubMed - indexed for MEDLINE]

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