PSEN1 and Alzheimer disease: In PSEN1, theydiscovered a new PSEN1 mutation, Val94Met, ina subject with sporadic AD, which was absent in the 53 asymptomatic controls;they also identified other three PSEN1 mutations:Ile143Thr (I143T, autosomal dominant),Glu280Ala (E280A, autosomal dominant andpreviously described), and Glu318Gly (E180G,in sporadic and familial cases).