Article
Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia.
Neurobiology of aging - 1 Nov 2009
Bernardi Livia, Tomaino Carmine, Anfossi Maria, Gallo Maura, Geracitano Silvana, Costanzo Angela, Colao Rosanna, Puccio Gianfranco, Frangipane Francesca, Curcio Sabrina A M, Mirabelli Maria, Smirne Nicoletta, Iapaolo David, Maletta Raffaele Giovanni, Bruni Amalia C
Abstract excerpt
BACKGROUND: Frontotemporal dementia is a clinically and genetically heterogeneous syndrome. Mutations in two genes, Microtubule Associated Protein Tau (MAPT) and Progranulin (PGRN), and rarely Presenilin mutations, have been causally linked to this disorder. OBJECTIVE: To investigate the presence of PGRN, PSEN1, PSEN2 and APP mutations in a group of familial early-onset frontotemporal dementia (f-EOFTD) patients...
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