The solved and unsolved mysteries of the genetics of early-onset Alzheimer's disease

Neuromolecular Med. 2002;2(1):1-10. doi: 10.1385/NMM:2:1:01.

Abstract

Approximately half of the Alzheimer's disease (AD) cases that are associated with early onset appear to be transmitted as a pure genetic, autosomal dominant trait. Genetic analyses of these pedigrees have found three causal genes: betaAPP, presenilin 1 (PS1), and presenilin 2 (PS2). This review provides an update on the pathological consequences of mutations in early-onset AD genes, the phenotypic heterogeneity of those cases, and future directions for research and clinical practice.

Publication types

  • Review

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Alzheimer Disease / epidemiology
  • Alzheimer Disease / genetics*
  • Amyloid Precursor Protein Secretases
  • Amyloid beta-Protein Precursor / genetics*
  • Amyloid beta-Protein Precursor / metabolism
  • Apolipoprotein E4
  • Apolipoproteins E / genetics
  • Aspartic Acid Endopeptidases
  • Chromosomes, Human, Pair 14 / genetics
  • Chromosomes, Human, Pair 21 / genetics
  • Endopeptidases / metabolism
  • Epistasis, Genetic
  • Forecasting
  • Genes, Dominant
  • Genetic Heterogeneity
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Membrane Proteins / genetics
  • Middle Aged
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism
  • Paraparesis, Spastic / genetics
  • Pedigree
  • Phenotype
  • Presenilin-1
  • Presenilin-2
  • Protein Processing, Post-Translational

Substances

  • Amyloid beta-Protein Precursor
  • Apolipoprotein E4
  • Apolipoproteins E
  • Membrane Proteins
  • Nerve Tissue Proteins
  • PSEN1 protein, human
  • PSEN2 protein, human
  • Presenilin-1
  • Presenilin-2
  • Amyloid Precursor Protein Secretases
  • Endopeptidases
  • Aspartic Acid Endopeptidases
  • BACE1 protein, human