In this study we have performed exome sequencing of eleven potential disease genes (PSEN1, PSEN2, APP, MAPT, APOE, GRN, TARDBP, CHMP2B, TREM2, VCP and FUS) in patients with AD and other neurodegenerative diseases for whom an early disease onset and/or a familial pattern of inheritance had been reported. Here, PSEN2 is linked to Alzheimer disease.