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Pick Bodies in a Family with Presenilin-1 Alzheimer's Disease

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dc.contributor.authorHalliday, Glenda M
dc.contributor.authorSong, Yun Ju C
dc.contributor.authorLepar, Gila
dc.contributor.authorBrooks, William S
dc.contributor.authorKwok, John B
dc.contributor.authorKersaitis, Cindy
dc.contributor.authorGregory, Gillian
dc.contributor.authorShepherd, Claire E
dc.contributor.authorRahimi, Ahmed (Farid)
dc.contributor.authorSchofield, Peter
dc.contributor.authorKril, Jillian J
dc.date.accessioned2015-12-10T22:13:55Z
dc.date.issued2005
dc.date.updated2015-12-09T08:01:17Z
dc.description.abstractPresenilin-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.
dc.identifier.issn0364-5134
dc.identifier.urihttp://hdl.handle.net/1885/49989
dc.publisherWiley-Liss Inc
dc.sourceAnnals of Neurology
dc.subjectKeywords: 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 journ
dc.titlePick Bodies in a Family with Presenilin-1 Alzheimer's Disease
dc.typeJournal article
local.bibliographicCitation.lastpage143
local.bibliographicCitation.startpage139
local.contributor.affiliationHalliday, Glenda M, University of New South Wales
local.contributor.affiliationSong, Yun Ju C, University of New South Wales
local.contributor.affiliationLepar, Gila, University of New South Wales
local.contributor.affiliationBrooks, William S, University of New South Wales
local.contributor.affiliationKwok, John B, Garvan Institute of Medical Research
local.contributor.affiliationKersaitis, Cindy, The University of Sydney
local.contributor.affiliationGregory, Gillian, University of New South Wales
local.contributor.affiliationShepherd, Claire E, University of New South Wales
local.contributor.affiliationRahimi, Ahmed (Farid), College of Medicine, Biology and Environment, ANU
local.contributor.affiliationSchofield, Peter, University of New South Wales
local.contributor.affiliationKril, Jillian J, The University of Sydney
local.contributor.authoruidRahimi, Ahmed (Farid), u4885897
local.description.embargo2037-12-31
local.description.notesImported from ARIES
local.identifier.absfor110316 - Pathology
local.identifier.absfor110902 - Cellular Nervous System
local.identifier.absfor110999 - Neurosciences not elsewhere classified
local.identifier.absseo920112 - Neurodegenerative Disorders Related to Ageing
local.identifier.ariespublicationu8611701xPUB195
local.identifier.citationvolume57
local.identifier.doi10.1002/ana.20366
local.identifier.scopusID2-s2.0-19944428327
local.type.statusPublished Version

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