Article
MAPT S305I mutation: implications for argyrophilic grain disease.
Acta neuropathologica - 1 Jul 2008
Kovacs Gabor G, Pittman Alan, Revesz Tamas, Luk Connie, Lees Andrew, Kiss Eva, Tariska Peter, Laszlo Lajos, Molnár Kinga, Molnar Maria J, Tolnay Markus, de Silva Rohan
Abstract excerpt
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...
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