Article
Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort.
Human mutation - 1 Dec 2015
Cacace Rita, Van den Bossche Tobi, Engelborghs Sebastiaan, Geerts Nathalie, Laureys Annelies, Dillen Lubina, Graff Caroline, Thonberg Håkan, Chiang Huei-Hsin, Pastor Pau, Ortega-Cubero Sara, Pastor Maria A, Diehl-Schmid Janine, Alexopoulos Panagiotis, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, Nacmias Benedetta, Sorbi Sandro, Sanchez-Valle Raquel, Lladó Albert, Gelpi Ellen, Almeida Maria Rosário, Santana Isabel, Tsolaki Magda, Koutroumani Maria, Clarimon Jordi, Lleó Alberto, Fortea Juan, de Mendonça Alexandre, Martins Madalena, Borroni Barbara, Padovani Alessandro, Matej Radoslav, Rohan Zdenek, Vandenbulcke Mathieu, Vandenberghe Rik, De Deyn Peter P, Cras Patrick, van der Zee Julie, Sleegers Kristel, Van Broeckhoven Christine
Abstract excerpt
Rare variants in the phospholipase D3 gene (PLD3) were associated with increased risk for late-onset Alzheimer disease (LOAD). We identified a missense mutation in PLD3 in whole-genome sequence data of a patient with autopsy confirmed Alzheimer disease (AD) and onset age of 50 years. Subsequently, we sequenced PLD3 in a Belgian early-onset Alzheimer disease (EOAD) patient (N = 261) and control (N = 319) cohort,...
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