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Medientyp:
E-Artikel
Titel:
Mutation ∆K281 in MAPT causes Pick’s disease
Beteiligte:
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.
Erschienen:
Springer Science and Business Media LLC, 2023
Erschienen in:Acta Neuropathologica
Sprache:
Englisch
DOI:
10.1007/s00401-023-02598-6
ISSN:
0001-6322;
1432-0533
Entstehung:
Anmerkungen:
Beschreibung:
<jats:title>Abstract</jats:title><jats:p>Two siblings with deletion mutation ∆K281 in <jats:italic>MAPT</jats:italic> 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 <jats:italic>MAPT</jats:italic> mutation ∆K281 causes Pick’s disease.</jats:p>