Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.

doi:10.1093/brain/awn012

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Article

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.

Brain : a journal of neurology - 1 Mar 2008

Le Ber Isabelle, Camuzat Agnès, Hannequin Didier, Pasquier Florence, Guedj Eric, Rovelet-Lecrux Anne, Hahn-Barma Valérie, van der Zee Julie, Clot Fabienne, Bakchine Serge, Puel Michèle, Ghanim Mustapha, Lacomblez Lucette, Mikol Jacqueline, Deramecourt Vincent, Lejeune Pascal, de la Sayette Vincent, Belliard Serge, Vercelletto Martine, Meyrignac Christian, Van Broeckhoven Christine, Lambert Jean-Charles, Verpillat Patrice, Campion Dominique, Habert Marie-Odile, Dubois Bruno, Brice Alexis

Abstract excerpt

Frontotemporal dementia (FTD), characterized by behavioural and language disorders, is a clinically, genetically and pathologically heterogeneous group of diseases. The most recently identified of the four known genes is GRN, associated with 17q-linked FTD with ubiquitin-immunoreactive inclusions. GRN was analysed in 502 probands with frontal variant FTD (fvFTD), FTD with motoneuron disease (FTD-MND), primary...

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PMID: 18245784
DOI: 10.1093/brain/awn012

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