C9ORF72 Repeat Expansions in the Frontotemporal Dementias Spectrum of Diseases: A Flow-chart for Genetic Testing

Le Ber, Isabelle; Camuzat, Agnès; Guillot‐Noël, Léna; Hannequin, Didier; Lacomblez, Lucette; Golfier, Véronique; Puel, Michèle; Martinaud, Olivier; Deramecourt, Vincent; Rivaud-Péchoux, Sophie; Millecamps, Stéphanie; Vercelletto, Martine; Couratier, Philippe; Sellal, François; Pasquier, Florence; Salachas, François; Thomas-Antérion, Catherine; Didic, Mira; Pariente, Jérémie; Seilhean, Danielle; Ruberg, Merle; Wargon, I.; Blanc, Frédéric; Camu, William; Michel, Bernard‐François; Berger, Éric; Sauvée, Mathilde; Thauvin-Robinet, Christel; Mondon, Karl; Tournier‐Lasserve, Elisabeth; Goizet, Cyril; Fleury, Marie; Viennet, G.; Verpillat, Patrice; Meininger, Vincent; Duyckaerts, Charles; Dubois, Bruno; Brice, Alexis

doi:10.3233/jad-121456

Public

C9ORF72 Repeat Expansions in the Frontotemporal Dementias Spectrum of Diseases: A Flow-chart for Genetic Testing

Published in Journal of Alzheimer s Disease • Jun 20, 2013

Authors:

Isabelle Le Ber

Agnès Camuzat

Léna Guillot‐Noël

Abstract

Frontotemporal dementia (FTD) refers to a disease spectrum including the behavioral variant FTD (bvFTD), primary progressive aphasia (PPA), progressive supranuclear palsy/corticobasal degeneration syndrome (PSP/CBDS), and FTD with amyotrophic lateral sclerosis (FTD-ALS). A GGGGCC expansion in C9ORF7...

Subject

Frontotemporal dementia

C9orf72

Progressive supranuclear palsy

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