Genetic and environmental factors in the pathogenesis of Huntington's disease

Anton Van Dellen*, Anthony J. Hannan

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

47 Citations (Scopus)

Abstract

Huntington's disease is a fatal inherited disorder in which there is progressive neurodegeneration in specific brain areas, mainly the striatum and cerebral cortex, producing motor, cognitive, and psychiatric symptoms. The trinucleotide repeat mutation involved is common to many other brain diseases, which may therefore involve similar mechanisms of pathogenesis. We are beginning to understand how a CAG trinucleotide repeat expansion in the disease gene, encoding an expanded polyglutamine tract, induces neuronal dysfunction and symptomatology in Huntington's disease. Recent evidence that environmental factors modify the onset and progression of neurodegeneration has shed new light on Huntington's disease and other devastating brain diseases. This review focuses on genetic mediators, environmental modulators, and associated gene-environment interactions in the pathogenesis of Huntington's disease.

Original languageEnglish
Pages (from-to)9-17
Number of pages9
JournalNeurogenetics
Volume5
Issue number1
DOIs
Publication statusPublished - Feb 2004
Externally publishedYes

Keywords

  • CAG trinucleotide repeat expansion
  • Environmental and genetic modulators
  • Huntington's disease
  • Neurodegeneration
  • Polyglutamine

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