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Huntington’s Disease

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Neurodegenerative Disorders

Abstract

Huntington’s disease (HD) is an autosomal dominant neurodegenerative brain disorder causing movement, cognitive and emotional deterioration leading to progressive disability and death. The genetic mutation was identified in 1993 as an expanded CAG repeat in the huntingtin (HTT) gene on the short arm of chromosome 4 that codes for an abnormally high number of glutamines in the translated huntingtin protein. At present there is no known treatment to slow the pace of neurodegeneration, which generally has a 20-year course after initial diagnosis. The clinical manifestations of the disease vary widely but they generally include dysfunction in cognition, mood, voluntary motor control and most patients have the signature finding of chorea.

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Author information

Authors and Affiliations

  1. Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Dublin, Ireland

    Tom Burke & Colin P. Doherty

  2. Department of Neurology, St. James’s Hospital, Dublin, Ireland

    Colin P. Doherty

  3. Neurological Disorders and Stroke Institute, National Institutes of Health, Bethesda, MD, USA

    Walter Koroshetz

  4. Department of Neuropsychology, Beaumont Hospital, and Academic Unit of Neurology, Trinity College Dubln, Dublin, Ireland

    Niall Pender

Authors
  1. Tom Burke
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  2. Colin P. Doherty
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  3. Walter Koroshetz
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  4. Niall Pender
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Corresponding author

Correspondence to Niall Pender .

Editor information

Editors and Affiliations

  1. Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Dublin, Ireland

    Orla Hardiman

  2. Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Dublin, Ireland

    Colin P. Doherty

  3. Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Dublin, Ireland

    Marwa Elamin

  4. Academic Unit of Neurology, Trinity Biomedical Sciences Inst, Dublin, Ireland

    Peter Bede

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© 2016 Springer International Publishing Switzerland

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Burke, T., Doherty, C.P., Koroshetz, W., Pender, N. (2016). Huntington’s Disease. In: Hardiman, O., Doherty, C., Elamin, M., Bede, P. (eds) Neurodegenerative Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-23309-3_9

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  • DOI: https://doi.org/10.1007/978-3-319-23309-3_9

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-23308-6

  • Online ISBN: 978-3-319-23309-3

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