Article
Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios.
Molecular psychiatry - 1 Oct 2026
Zarea Aline, Cassinari Kevin, Lecoquierre François, Quenez Olivier, Charbonnier Camille, Schramm Catherine, Lacour Morgane, Rousseau Stéphane, Richard Anne-Claire, Rovelet-Lecrux Anne, Lecourtois Magalie, Olaso Robert, Boland Anne, Deleuze Jean-François, Gilissen Christian, Veltman Joris A, Vissers Lisenka Elm, Bellenguez Céline, Dols-Icardo Orio, Hardy John, Holstege Henne, Hulsman Marc, Lambert Jean-Charles, Mead Simon, Ramirez Alfredo, Sims Rebecca, van Swieten John, Wagner Michael, Williams Julie, Bombois Stéphanie, Boutoleau-Bretonniere Claire, Charmard-Witkowski Ludivine, de la Sayette Vincent, Deramecourt Vincent, Etcharry-Bouyx Frédérique, Gabelle Audrey, Gueriot Claude, Le Guyader Gwenaël, Le Ber Isabelle, Lebouvier Thibaud, Martinaud Olivier, Michon Agnès, Quelin Chloé, Sarazin Marie, Sévin Mathieu, Thauvin-Robinet Christel, Wallon David, Nicolas Gaël
Abstract excerpt
The genetic architecture of sporadic Early-Onset Alzheimer Disease (sEOAD, onset ≤65 years) remains largely unknown. To assess the de novo mutation (DNM) hypothesis, we performed a nationwide recruitment of 37 novel sEOAD patients-unaffected parents trios. After assessing known monogenic genes, we performed trio-based exome sequencing and jointly analyzed novel trios with 12 previously reported ones. Of these, we...
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