No detected mutations in the genes for the amyloid precursor protein and presenilins 1 and 2 in a swiss early-onset Alzheimer's disease family with a dominant mode of inheritance

Dement Geriatr Cogn Disord. 1999 Nov-Dec;10(6):431-6. doi: 10.1159/000017185.

Abstract

Mutations have been found in more than a hundred early-onset families with Alzheimer's disease (AD) in the genes for the amyloid precursor protein, presenilin 1 and presenilin 2. The object of our investigation was to identify if these mutations or novel ones were operating in a Swiss early-onset AD family (mean age of onset: 53.3 years) with 7 members available, all neuropathologically confirmed. No known or new mutations were detected. Thus, our data support the existence of a yet unknown mutation, or other genes, contributing to familial early-onset AD. CopyrightCopyright 1999S.KargerAG,Basel

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / metabolism
  • Alzheimer Disease / psychology
  • Amyloid beta-Protein Precursor / genetics*
  • DNA / genetics
  • DNA Primers
  • Exons / genetics
  • Female
  • Genes, Dominant / genetics*
  • Humans
  • Immunohistochemistry
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Pedigree
  • Presenilin-1
  • Presenilin-2
  • Psychiatric Status Rating Scales
  • Reverse Transcriptase Polymerase Chain Reaction
  • Switzerland

Substances

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