Article
The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy.
Acta neuropathologica - 1 Oct 2003
Hogg Marion, Grujic Zoran M, Baker Matt, Demirci Serpil, Guillozet Angela L, Sweet Alison P, Herzog Laura L, Weintraub Sandra, Mesulam M-Marsel, LaPointe Nichole E, Gamblin T C, Berry Robert W, Binder Lester I, de Silva Rohan, Lees Andrew, Espinoza Marisol, Davies Peter, Grover Andrew, Sahara Naruhiko, Ishizawa Takashi, Dickson Dennis, Yen Shu-Hui, Hutton Michael, Bigio Eileen H
Abstract excerpt
We report a case of rapidly progressive frontotemporal dementia presenting at age 33 years. At autopsy there was severe atrophy of the frontal and temporal lobes. Tau-positive Pick bodies, which ultrastructurally were composed of straight filaments, were present, accompanied by severe neuronal loss and gliosis. RD3, a tau antibody specific for the three-repeat (3R) isoforms, labeled the Pick bodies. ET3, a...
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