Familial Alzheimer's disease: site of mutation influences clinical phenotype

Ann Neurol. 2000 Sep;48(3):376-9.

Abstract

Alzheimer's disease (AD) is caused by multiple genetic and/or environmental etiologies. Because differences in the genetically determined pathogenesis may cause differences in the phenotype, we examined age at onset and age at death in 90 subjects with dominantly inherited AD due to different mutations (amyloid precursor protein, presenilin-1, and presenilin-2 genes). We found that among patients with dominantly inherited AD, genetic factors influence both age at onset and age at death.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Alzheimer Disease / genetics*
  • Amyloid beta-Protein Precursor / genetics
  • Analysis of Variance
  • Humans
  • Membrane Proteins / genetics
  • Middle Aged
  • Mutation / genetics*
  • Phenotype
  • Presenilin-1
  • Presenilin-2

Substances

  • Amyloid beta-Protein Precursor
  • Membrane Proteins
  • PSEN1 protein, human
  • PSEN2 protein, human
  • Presenilin-1
  • Presenilin-2