Thus, to test the hypothesis that rare coding variability in genes relevant for familial Alzheimer's disease (FAD) and other types of dementia (APP, PSEN1, PSEN2, MAPT, GRN, and PRNP) may underlie LOAD pathogenesis, we have analyzed exome sequencing data, in a British cohort composed of 141 LOAD cases without any apparent family history and 179 elderly controls autopsy proven. The gene discussed is PSEN1; the disease is familial Alzheimer disease.