Screening of amyloid precursor protein gene mutation (APP 717 Val-->Ile) in Swedish families with Alzheimer's disease

J Neural Transm Park Dis Dement Sect. 1993;6(2):151-6. doi: 10.1007/BF02261009.

Abstract

Screening for the APP 717 Val-->Ile mutation in the amyloid precursor protein (APP) gene in 34 Swedish families with familial Alzheimer's disease (FAD), 16 sporadic cases of Alzheimer's disease and five patients with Down's syndrome (DS) failed to identify further cases of the mutation. These results suggests that the mutation is rare among Swedish families with Alzheimer's disease. In addition, we summarize present reports of the frequency of the mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / genetics*
  • Amyloid beta-Protein Precursor / genetics*
  • Chromosomes, Human, Pair 21
  • Down Syndrome / genetics
  • Genetic Testing*
  • Humans
  • Isoleucine / metabolism
  • Middle Aged
  • Mutation*
  • Polymerase Chain Reaction
  • Sweden
  • Valine / genetics

Substances

  • Amyloid beta-Protein Precursor
  • Isoleucine
  • Valine