MAPT S305I mutation: implications for argyrophilic grain disease

@article{Kovacs2007MAPTSM,
  title={MAPT S305I mutation: implications for argyrophilic grain disease},
  author={Gabor G Kovacs and Alan M. Pittman and Tamas R Revesz and C. F. Luk and Andrew Lees and {\'E}va {\'I}risz Kiss and P{\'e}ter Tariska and Lajos L{\'a}szl{\'o} and Kinga Moln{\'a}r and M{\'a}ria Judit Moln{\'a}r and Markus Tolnay and Rohan de Silva},
  journal={Acta Neuropathologica},
  year={2007},
  volume={116},
  pages={103-118}
}
Frontotemporal lobar degeneration (FTLD) with mutations in the tau gene (MAPT) causes familial frontotemporal dementia with tau pathology. Many of these mutations result in morphological phenotypes resembling sporadic tauopathies, although, to date, no such cases mimicking argyrophilic grain disease (AgD) have been documented. We now present a case with a novel S305I MAPT mutation and a morphological phenotype showing resemblance to AgD. At the age of 39, the patient developed behavioural and… CONTINUE READING
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