The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy

@article{Hogg2003TheLT,
  title={The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy},
  author={Marion Hogg and Z. Grujic and Matt Dane Baker and Serpil Demirci and Angela L. Guillozet and Alison P. Sweet and Laura L. Herzog and Sandra Weintraub and M.-Marsel Mesulam and Nichole E Lapointe and Truman C Gamblin and Robert W. Berry and Lester I. Binder and Rohan de Silva and Andrew Lees and Marisol Espinoza and Peter Davies and Andrew Grover and Naruhiko Sahara and Takashi Ishizawa and D. J. H. Dickson and S Yen and Michael Hutton and Eileen Bigio},
  journal={Acta Neuropathologica},
  year={2003},
  volume={106},
  pages={323-336}
}
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 four-repeat (4R) isoform-specific tau antibody, did not label Pick bodies, but… CONTINUE READING

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The novel tau gene mutation L266V – clinical phenotype, biochem- istry and pathology. Neurobiol Aging 3 (Suppl 1):S459

  • T Kobayashi, Y Motoi, +7 authors M Yasuhara
  • 2002
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