Huntington's disease

Research output: Contribution to journalArticlepeer-review

Abstract

Huntington's disease (HD) is an autosomal dominant progressive neuropsychiatric disorder, characterized by abnormalities of movement, emotion and cognition. The most important pathological feature is selective neuronal loss, primarily in the striatum and cerebral cortex. HD is caused by the expansion of a CAG trinucleotide repeat in the gene encoding huntingtin. The expanded repeat encodes an abnormally long polyglutamine tract, and many lines of evidence now strongly suggest that this mutation is neurotoxic. In this review, we first detail the clinical, genetic and pathological features of HD. We then describe how clues from neurotoxicological, biochemical, cell, transgenic mouse, and invertebrate models of HD lead to a multifactored model of HD pathogenesis. We conclude by discussing how the model of HD serves as a guide to the development of rational therapeutics for this devastating disease.

Original languageEnglish (US)
Pages (from-to)142-152
Number of pages11
JournalClinical Neuroscience Research
Volume1
Issue number1-2
DOIs
StatePublished - Jan 1 2001

Keywords

  • Glutamine
  • Huntington
  • Movement
  • Neurodegeneration
  • Psychiatric
  • Trinucleotide repeat

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Neurology
  • Clinical Neurology
  • Psychiatry and Mental health
  • Biological Psychiatry

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