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Article

Early onset familial Alzheimer's disease: Mutation frequency in 31 families.

Neurology - 28 Jan 2003

Janssen J C, Beck J A, Campbell T A, Dickinson A, Fox N C, Harvey R J, Houlden H, Rossor M N, Collinge J

Abstract excerpt

BACKGROUND: Three causative genes have been identified for autosomal dominant AD. OBJECTIVE: To determine the proportion of patients with early onset AD with a positive family history accounted for by mutations in these genes. METHODS: A mutational analysis of the amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) genes was performed in 31 probands with probable or definite AD from UK...

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Source

Identifiers

PMID: 12552037
DOI: 10.1212/01.wnl.0000042088.22694.e3

Genes

APP
PSEN1
PSEN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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