Huntington's disease: translating a CAG repeat into a pathogenic mechanism

Curr Opin Neurobiol. 1996 Oct;6(5):638-43. doi: 10.1016/s0959-4388(96)80097-3.


The specific pattern of neuronal cell death in Huntington's disease (HD) is triggered by an abnormal version of the huntingtin protein, which is produced by translation of the HD gene defect, an expanded CAG repeat in a novel 4p16.3 gene. The extended amino-terminal polyglutamine segment may act via the protein's inherent activity, increasing it or decreasing it in a graded fashion, or, alternatively, it may confer the ability to interact with a completely different set of cellular pathways, focusing attention on the HD protein's normal and abnormal physiological functions.

Publication types

  • Review

MeSH terms

  • Animals
  • Brain / pathology*
  • Cell Death
  • Chromosome Mapping
  • Chromosomes, Human, Pair 4*
  • Humans
  • Huntingtin Protein
  • Huntington Disease / genetics*
  • Huntington Disease / pathology*
  • Huntington Disease / physiopathology
  • Models, Genetic
  • Nerve Tissue Proteins / biosynthesis
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / physiology*
  • Neurons / pathology
  • Nuclear Proteins / biosynthesis
  • Nuclear Proteins / genetics
  • Nuclear Proteins / physiology*
  • Protein Biosynthesis
  • Transcription, Genetic
  • Trinucleotide Repeats*


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