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10.1016/B978-0-12-381328-2.00014-6

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C4458347!4458347!21907094
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suck abstract from ncbi


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pmid21907094      Int+Rev+Neurobiol 2011 ; 98 (ä): 325-72
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  • GENETICS AND NEUROPATHOLOGY OF HUNTINGTON?S DISEASE #MMPMID21907094
  • Reiner A; Dragatsis I; Dietrich P
  • Int Rev Neurobiol 2011[]; 98 (ä): 325-72 PMID21907094show ga
  • 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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