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Article

Identification of new presenilin gene mutations in early-onset familial Alzheimer disease.

Archives of neurology - 1 Nov 2003

Tedde Andrea, Nacmias Benedetta, Ciantelli Monica, Forleo Paolo, Cellini Elena, Bagnoli Silvia, Piccini Carolina, Caffarra Paolo, Ghidoni Enrico, Paganini Marco, Bracco Laura, Sorbi Sandro

Abstract excerpt

BACKGROUND: Mutations in the presenilin 1 (PS1) and presenilin 2 (PS2) genes, and more rarely in beta-amyloid precursor protein (betaAPP), underlie the pathogenesis of most cases of familial Alzheimer disease (FAD). OBJECTIVE: To screen the entire coding region of the PS1 and PS2 genes and exons 16 and 17 of the betaAPP to find pathogenetic mutations in FAD. Patients Patients with FAD were consecutively enrolled...

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PMID: 14623725
DOI: 10.1001/archneur.60.11.1541

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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