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Article

A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.

American journal of human genetics - 1 Jan 1998

Tysoe C, Whittaker J, Xuereb J, Cairns N J, Cruts M, Van Broeckhoven C, Wilcock G, Rubinsztein D C

Abstract excerpt

We have examined genomic DNA from 40 cases of autopsy-confirmed early-onset Alzheimer disease (EOAD) (age at onset <=65 years) that were all unselected for family history. We have sequenced the 10 exons and flanking intronic sequences of the presenilin-1 (PS-1) gene for all 40 individuals. A sing...

Topics

Adult
Age of Onset
Aged
Alzheimer Disease
Amino Acid Sequence
Autopsy
Brain
DNA, Complementary
Female
Haplotypes
Humans
Male
Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mutation

Pedigree

Polymerase Chain Reaction

Presenilin-1

Source

Open in PubMed Open full text

Identifiers

PMID: 9443865
DOI: 10.1086/301672
PMCID: PMC1376799

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9443865-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.PMID 9443865Read ↗

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