Halliday, Glenda M; Song, Yun Ju C; Lepar, Gila; Brooks, William S; Kwok, John B; Kersaitis, Cindy; Gregory, Gillian; Shepherd, Claire E; Rahimi, Ahmed (Farid); Schofield, Peter; Kril, Jillian J
Presenilin-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.
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