Author:
Schweighauser Manuel,Garringer Holly J.,Klingstedt Therése,Nilsson K. Peter R.,Masuda-Suzukake Masami,Murrell Jill R.,Risacher Shannon L.,Vidal Ruben,Scheres Sjors H. W.,Goedert Michel,Ghetti Bernardino,Newell Kathy L.
Abstract
AbstractTwo siblings with deletion mutation ∆K281 in MAPT developed frontotemporal dementia. At autopsy, numerous inclusions of hyperphosphorylated 3R Tau were present in neurons and glial cells of neocortex and some subcortical regions, including hippocampus, caudate/putamen and globus pallidus. The inclusions were argyrophilic with Bodian silver, but not with Gallyas–Braak silver. They were not labelled by an antibody specific for tau phosphorylated at S262 and/or S356. The inclusions were stained by luminescent conjugated oligothiophene HS-84, but not by bTVBT4. Electron cryo-microscopy revealed that the core of tau filaments was made of residues K254-F378 of 3R Tau and was indistinguishable from that of Pick’s disease. We conclude that MAPT mutation ∆K281 causes Pick’s disease.
Funder
Medical Research Council
Foundation for the National Institutes of Health
Rainwater Charitable Foundation
Alzheimerfonden
Demensförbundet
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine
Cited by
4 articles.
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