Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease

Eur J Hum Genet. 2008 Feb;16(2):171-5. doi: 10.1038/sj.ejhg.5201966. Epub 2007 Nov 28.

Abstract

Familial early-onset Alzheimer's disease with cerebral amyloid angiopathy (EOAD/CAA) was recently associated with duplications of the gene for the amyloid-beta precursor protein (APP). In this study, we have screened for duplications of APP in patients with EOAD from Sweden and Finland. Seventy-five individuals from families with EOAD and 66 individuals with EOAD without known familial inheritance were screened by quantitative PCR. On the basis of the initial results, a portion of the samples was also investigated with quantitative multiplex PCR. No duplications of APP were identified, whereby we conclude that this is not a common cause of EOAD in the Swedish and Finnish populations, at least not in our collection of families and cases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Alzheimer Disease / complications
  • Alzheimer Disease / epidemiology
  • Alzheimer Disease / genetics*
  • Amyloid beta-Protein Precursor / genetics*
  • Cerebral Amyloid Angiopathy / complications
  • Cerebral Amyloid Angiopathy / epidemiology
  • Cerebral Amyloid Angiopathy / genetics
  • Female
  • Finland
  • Gene Dosage
  • Gene Duplication*
  • Humans
  • Male
  • Middle Aged
  • Prevalence
  • Sweden

Substances

  • Amyloid beta-Protein Precursor