Autopsy-proven Huntington's disease with 29 trinucleotide repeats

Mov Disord. 2007 Jan;22(1):127-30. doi: 10.1002/mds.21195.

Abstract

Huntington's disease (HD) is a neurodegenerative disorder associated with expansion of CAG trinucleotide repeats in the huntingtin gene. A minimum of 36 CAG repeats is usually reported in patients with clinical features of HD; 30 to 35 repeats represent an intermediate range. Here we report a 65-year-old male with autopsy-proven HD and 29 CAG repeats.

Publication types

  • Case Reports

MeSH terms

  • Autopsy / methods
  • Humans
  • Huntingtin Protein
  • Huntington Disease / genetics*
  • Huntington Disease / pathology
  • Male
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Trinucleotide Repeat Expansion / genetics*

Substances

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