Mutation ∆K281 in MAPT causes Pick's disease.
Electron cryo-microscopy
FTDP-17T
Luminescent conjugated oligothiophenes
MAPT mutation ∆K281
Pick’s disease
Silver staining
Tau
Journal
Acta neuropathologica
ISSN: 1432-0533
Titre abrégé: Acta Neuropathol
Pays: Germany
ID NLM: 0412041
Informations de publication
Date de publication:
08 2023
08 2023
Historique:
received:
17
05
2023
accepted:
08
06
2023
revised:
08
06
2023
medline:
10
7
2023
pubmed:
23
6
2023
entrez:
23
6
2023
Statut:
ppublish
Résumé
Two 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.
Identifiants
pubmed: 37351604
doi: 10.1007/s00401-023-02598-6
pii: 10.1007/s00401-023-02598-6
pmc: PMC10329087
doi:
Substances chimiques
Silver
3M4G523W1G
tau Proteins
0
MAPT protein, human
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
211-226Subventions
Organisme : Medical Research Council
ID : MC_UP_A025-1013
Pays : United Kingdom
Organisme : NIA NIH HHS
ID : R01 AG080001
Pays : United States
Organisme : NIA NIH HHS
ID : P30 AG072976
Pays : United States
Organisme : NINDS NIH HHS
ID : U01 NS110437
Pays : United States
Organisme : Medical Research Council
ID : MC_U105184291
Pays : United Kingdom
Organisme : NIA NIH HHS
ID : P30 AG010133
Pays : United States
Informations de copyright
© 2023. The Author(s).
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