The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.

doi:10.3233/JAD-2012-120172

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Article

The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.

Journal of Alzheimer's disease : JAD - 1 Jan 2012

Wallon David, Rousseau Stéphane, Rovelet-Lecrux Anne, Quillard-Muraine Muriel, Guyant-Maréchal Lucie, Martinaud Olivier, Pariente Jérémie, Puel Michèle, Rollin-Sillaire Adeline, Pasquier Florence, Le Ber Isabelle, Sarazin Marie, Croisile Bernard, Boutoleau-Bretonnière Claire, Thomas-Antérion Catherine, Paquet Claire, Moreaud Olivier, Gabelle Audrey, Sellal François, Sauvée Mathilde, Laquerrière Annie, Duyckaerts Charles, Delisle Marie-Bernadette, Streichenberger Nathalie, Lannes Béatrice, Frebourg Thierry, Hannequin Didier, Campion Dominique

Abstract excerpt

We describe 56 novel autosomal dominant early-onset Alzheimer disease (ADEOAD) families with PSEN1, PSEN2, and AβPP mutations or duplications, raising the total of families with mutations on known genes to 111 (74 PSEN1, 8 PSEN2, 16 AβPP, and 13 AβPP duplications) in the French series. In 33 additional families (23% of the series), the genetic determinism remained uncharacterized after this screening....

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Identifiers

PMID: 22475797
DOI: 10.3233/JAD-2012-120172

Genes

PSEN1
PSEN2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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