Article
Progranulin null mutations in both sporadic and familial frontotemporal dementia.
Human mutation - 1 Sept 2007
Le Ber Isabelle, van der Zee Julie, Hannequin Didier, Gijselinck Ilse, Campion Dominique, Puel Michèle, Laquerrière Annie, De Pooter Tim, Camuzat Agnès, Van den Broeck Marleen, Dubois Bruno, Sellal François, Lacomblez Lucette, Vercelletto Martine, Thomas-Antérion Catherine, Michel Bernard-François, Golfier Véronique, Didic Mira, Salachas François, Duyckaerts Charles, Cruts Marc, Verpillat Patrice, Van Broeckhoven Christine, Brice Alexis
Abstract excerpt
Frontotemporal dementia (FTD) is the second most frequent type of neurodegenerative dementias. Mutations in the progranulin gene (GRN, PGRN) were recently identified in FTDU-17, an FTD subtype characterized by ubiquitin-immunoreactive inclusions and linkage to chromosome 17q21. We looked for PGRN mutations in a large series of 210 FTD patients (52 familial, 158 sporadic) to accurately evaluate the frequency of...
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