Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene.

doi:10.1212/wnl.42.8.1445

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Article

Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene.

Neurology - 1 Aug 1992

Karlinsky H, Vaula G, Haines J L, Ridgley J, Bergeron C, Mortilla M, Tupler R G, Percy M E, Robitaille Y, Noldy N E

Abstract excerpt

We present prospective clinical and neuropathologic details of a pedigree segregating familial Alzheimer's disease (FAD) associated with a mutation (G----A substitution) at nucleotide 2149 in exon 17 of the amyloid precursor protein (APP) gene. This mutation, which is predicted to cause the misse...

Topics

Adult
Alzheimer Disease
Amyloid beta-Protein Precursor
Base Sequence
Brain
Codon
Female
Humans
Middle Aged
Molecular Biology
Molecular Probes
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Neuropsychological Tests

Pedigree

Phenotype

Prospective Studies

Retrospective Studies

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Open in PubMed

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PMID: 1520398
DOI: 10.1212/wnl.42.8.1445

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1520398-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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