Pick bodies in a family with presenilin-1 Alzheimer's disease
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.
|Authors||Halliday, G. M.;Song, Y. J.;Lepar, G.;Brooks, W. S.;Kwok, J. B.;Kersaitis, C.;Gregory, G.;Shepherd, C. E.;Rahimi, F.;Schofield, P. R.;Kril, J. J. :|
|Publisher Name||ANNALS OF NEUROLOGY|
|URL link to publisher's version||http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15622541|
|OpenAccess link to author's accepted manuscript version||https://publications.gimr.garvan.org.au/open-access/1899|