In:
Acta Neuropathologica, Springer Science and Business Media LLC, Vol. 146, No. 2 ( 2023-08), p. 211-226
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
0001-6322
,
1432-0533
DOI:
10.1007/s00401-023-02598-6
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2023
detail.hit.zdb_id:
1458410-4
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