Halliday, Glenda MSong, Yun Ju CLepar, GilaBrooks, William SKwok, John BKersaitis, CindyGregory, GillianShepherd, Claire ERahimi, Ahmed (Farid)Schofield, PeterKril, Jillian J2015-12-100364-5134http://hdl.handle.net/1885/49989Presenilin-1 (PS-1) mutations can cause Pick's disease without evidence of Alzheimer's disease (AD). We describe a family with a PS-1 M146L mutation and both Pick bodies and AD. Sarkosyl-insoluble hyperphosphorylated tau showed three bands consistent with AD, although dephosphorylation showed primarily three-repeat isoforms. M146L mutant PS-1 may predispose to both Pick's disease and AD by affecting multiple intracellular pathways involving tau phosphorylation and amyloid metabolism.Keywords: presenilin 1; tau protein; adult; aged; Alzheimer disease; article; clinical article; disease predisposition; family history; female; gene mutation; histopathology; human; human cell; human tissue; male; metabolism; Pick presenile dementia; priority journ200510.1002/ana.203662015-12-09