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

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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 PMID21907094 show 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.
  • |*Genetic Predisposition to Disease [MESH]
  • |Brain/*pathology [MESH]
  • |Humans [MESH]
  • |Huntingtin Protein [MESH]
  • |Huntington Disease/*genetics/*pathology [MESH]
  • |Nerve Tissue Proteins/*genetics [MESH]
  • |Nuclear Proteins/*genetics [MESH]


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