Download MendeleyMutation ∆K281 in MAPT causes Pick's disease.
Schweighauser, M., Garringer, H.J., Klingstedt, T., Nilsson, K.P.R., Masuda-Suzukake, M., Murrell, J.R., Risacher, S.L., Vidal, R., Scheres, S.H.W., Goedert, M., Ghetti, B., Newell, K.L.(2023) Acta Neuropathol 146: 211-226
- PubMed: 37351604
- DOI: https://doi.org/10.1007/s00401-023-02598-6
- Primary Citation of Related Structures:
8P34 - PubMed 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.
Organizational Affiliation:
Medical Research Council Laboratory of Molecular Biology, Cambridge, UK.
