Article
Association of the variant Cys139Arg at GRN gene to the clinical spectrum of frontotemporal lobar degeneration.
Journal of Alzheimer's disease : JAD - 1 Jan 2014
Piaceri Irene, Pradella Silvia, Cupidi Chiara, Nannucci Serena, Polito Cristina, Bagnoli Silvia, Tedde Andrea, Smirne Nicoletta, Anfossi Maria, Gallo Maura, Bernardi Livia, Colao Rosanna, Maletta Raffaele, Bruni Amalia Cecilia, Sorbi Sandro, Nacmias Benedetta
Abstract excerpt
BACKGROUND: Progranulin protein (PGRN) is a cysteine-rich growth factor encoded by the progranulin gene (GRN). PGRN mutations were identified in patients with frontotemporal lobar degeneration (FTLD) and recently its role as risk factor has been described in patients with probable Alzheimer's disease (AD). To date, more than 100 genetic variants in GRN gene have been described and the pathogenic nature is still...
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