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  • Title: Genetics and neuropathology of Huntington's disease.
    Author: Reiner A, Dragatsis I, Dietrich P.
    Journal: Int Rev Neurobiol; 2011; 98():325-72. PubMed ID: 21907094.
    Abstract:
    Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder that prominently affects the basal ganglia, leading to affective, cognitive, behavioral and motor decline. The basis of HD is a CAG repeat expansion to >35 CAG in a gene that codes for a ubiquitous protein known as huntingtin, resulting in an expanded N-terminal polyglutamine tract. The size of the expansion is correlated with disease severity, with increasing CAG accelerating the age of onset. A variety of possibilities have been proposed as to the mechanism by which the mutation causes preferential injury to the basal ganglia. The present chapter provides a basic overview of the genetics and pathology of HD.
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