Browsing by Subject "FTDP-17T"

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    Mutation ∆K281 in MAPT causes Pick’s disease
    (Springer, 2023) 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.; Pathology and Laboratory Medicine, School of Medicine
    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.