Genetics and neuropathology of huntington's disease

Research output: Chapter in Book/Report/Conference proceedingChapter

67 Citations (Scopus)

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.

Original languageEnglish (US)
Title of host publicationInternational Review of Neurobiology
PublisherAcademic Press Inc.
Pages325-372
Number of pages48
DOIs
StatePublished - Jan 1 2011

Publication series

NameInternational Review of Neurobiology
Volume98
ISSN (Print)0074-7742

Fingerprint

Huntington Disease
Basal Ganglia
Age of Onset
Neurodegenerative Diseases
Pathology
Mutation
Wounds and Injuries
Genes
Neuropathology
Proteins

All Science Journal Classification (ASJC) codes

  • Clinical Neurology
  • Cellular and Molecular Neuroscience

Cite this

Reiner, A., Dragatsis, I., & Dietrich, P. (2011). Genetics and neuropathology of huntington's disease. In International Review of Neurobiology (pp. 325-372). (International Review of Neurobiology; Vol. 98). Academic Press Inc.. https://doi.org/10.1016/B978-0-12-381328-2.00014-6

Genetics and neuropathology of huntington's disease. / Reiner, Anton; Dragatsis, Ioannis; Dietrich, Paula.

International Review of Neurobiology. Academic Press Inc., 2011. p. 325-372 (International Review of Neurobiology; Vol. 98).

Research output: Chapter in Book/Report/Conference proceedingChapter

Reiner, A, Dragatsis, I & Dietrich, P 2011, Genetics and neuropathology of huntington's disease. in International Review of Neurobiology. International Review of Neurobiology, vol. 98, Academic Press Inc., pp. 325-372. https://doi.org/10.1016/B978-0-12-381328-2.00014-6
Reiner A, Dragatsis I, Dietrich P. Genetics and neuropathology of huntington's disease. In International Review of Neurobiology. Academic Press Inc. 2011. p. 325-372. (International Review of Neurobiology). https://doi.org/10.1016/B978-0-12-381328-2.00014-6
Reiner, Anton ; Dragatsis, Ioannis ; Dietrich, Paula. / Genetics and neuropathology of huntington's disease. International Review of Neurobiology. Academic Press Inc., 2011. pp. 325-372 (International Review of Neurobiology).
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