Huntington disease: clinical, genetic, and social aspects

J Geriatr Psychiatry Neurol. 1998 Summer;11(2):61-70. doi: 10.1177/089198879801100204.

Abstract

Huntington disease (HD) is a fascinating neurodegenerative disorder whose features straddle the boundaries of psychiatry, neurology, and genetics. The clinical symptoms of HD consist of a triad of motor, cognitive, and psychiatric/behavioral disturbances. In 1993, the HD Collaborative Research Group identified the gene and the mutation responsible for HD. HD was one of the first neurodegenerative disorders discovered to be caused by a novel mutational mechanism known as trinucleotide repeat expansion. Since then, HD has been the model for autosomal dominant neurogenetic disorders. The clinical, pathological, and genetic aspects of the disease are reviewed and some of the questions that remain to be answered by researchers of the 21st century are outlined.

Publication types

  • Review

MeSH terms

  • Adult
  • Aged
  • Brain / pathology
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • DNA Mutational Analysis
  • Dementia / genetics*
  • Genes, Dominant / genetics
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Huntingtin Protein
  • Huntington Disease / diagnosis
  • Huntington Disease / genetics*
  • Middle Aged
  • Nerve Tissue Proteins / genetics
  • Nuclear Proteins / genetics
  • Proteins / genetics
  • Trinucleotide Repeats / genetics

Substances

  • HTT protein, human
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Proteins