Influence of the amyloid precursor protein locus on dementia in Down syndrome

Neurology. 2004 Jun 8;62(11):1996-8. doi: 10.1212/01.wnl.0000129275.13169.be.

Abstract

Background: The amyloid precursor protein (APP) locus on chromosome 21 influences the development of Alzheimer disease.

Method: The authors investigated the relationship between a tetranucleotide repeat on intron 7 of the APP gene and the age at onset of dementia in Down syndrome (DS).

Results: There was a 13-year difference in the age at onset of dementia in DS associated with the number of tetranucleotide repeat alleles in APP.

Conclusion: APP is an important locus predicting the age at onset of dementia in people with Down syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Alleles
  • Alzheimer Disease / genetics
  • Amyloid beta-Protein Precursor / genetics*
  • Chromosomes, Human, Pair 21 / genetics
  • Dementia / epidemiology
  • Dementia / genetics*
  • Down Syndrome / genetics*
  • Down Syndrome / mortality
  • Down Syndrome / psychology
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Introns / genetics
  • Life Tables
  • Male
  • Microsatellite Repeats*
  • Middle Aged
  • Survival Analysis

Substances

  • Amyloid beta-Protein Precursor