The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

Nat Genet. 1993 Aug;4(4):398-403. doi: 10.1038/ng0893-398.

Abstract

Huntington's disease (HD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene. We have assessed 360 HD individuals from 259 unrelated families and found a highly significant correlation (r = 0.70, p = 10(-7)) between the age of onset and the repeat length, which accounts for approximately 50% of the variation in the age of onset. Significant associations were also found between repeat length and age of death and onset of other clinical features. Sib pair and parent-child analysis revealed that the CAG repeat demonstrates only mild instability. Affected HD siblings had significant correlations for trinucleotide expansion (r = 0.66, p < 0.001) which was not apparent for affected parent-child pairs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Aged
  • Aged, 80 and over
  • Base Sequence
  • Child
  • Child, Preschool
  • Cohort Studies
  • DNA / blood
  • DNA / genetics
  • DNA / isolation & purification
  • Female
  • Genotype
  • Humans
  • Huntington Disease / epidemiology
  • Huntington Disease / genetics*
  • Huntington Disease / physiopathology
  • Leukocytes / physiology
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Nuclear Family
  • Oligodeoxyribonucleotides
  • Phenotype
  • Repetitive Sequences, Nucleic Acid*

Substances

  • Oligodeoxyribonucleotides
  • DNA