Article
MAPT V363I variation in a sporadic case of frontotemporal dementia: variable penetrant mutation or rare polymorphism?
Alzheimer disease and associated disorders - 1 Jan 2000
Anfossi Maria, Bernardi Livia, Gallo Maura, Geracitano Silvana, Colao Rosanna, Puccio Gianfranco, Curcio Sabrina A M, Frangipane Francesca, Mirabelli Maria, Tomaino Carmine, Smirne Nicoletta, Maletta Raffaele, Bruni Amalia Cecilia
Abstract excerpt
The V363I mutation of the microtubule-associated protein tau gene has previously been associated with a case of primary progressive nonfluent aphasia with variable penetrance. Herein, we report the finding of the V363I variation in a sporadic early onset frontotemporal dementia patient and in several members of her family. The V363I variation was associated with frontotemporal dementia only in the proband which...
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