Screening for the β-amyloid precursor protein mutation (APP717: Val → Ile) in extended pedigrees with early onset Alzheimer's disease

Marie Christine Chartier-Harlin, Fiona Crawford, Khalid Hamandi, Mike Mullan, Alison Goate, John Hardy, Hubert Backhovens, Jean Jacques Martin, Christine Van Broeckhoven

Research output: Contribution to journalArticlepeer-review

59 Scopus citations

Abstract

Screening for the APP717 mutation in 5 further families with early onset Alzheimer's disease failed to reveal further cases with this variant. Screening a further 100 normal individuals for this mutation also failed to reveal further occurrences of this variant in the general population. Sequencing of exons 16 and 17 of the β-amyloid precursor protein gene (the exons which encode the β-amyloid fragment) in pedigree FAD4 revealed them to be of normal sequence. The significance of these observations to the genetics of Alzheimer's disease is discussed.

Original languageEnglish
Pages (from-to)134-135
Number of pages2
JournalNeuroscience Letters
Volume129
Issue number1
DOIs
StatePublished - 5 Aug 1991
Externally publishedYes

Keywords

  • Alzheimer's disease
  • Chromosome 21
  • β-Amyloid precursor protein (APP)

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