SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

Millecamps, Stéphanie; Salachas, François; Cazeneuve, C.; Gordon, Paul; Bricka, Bernard; Camuzat, A.; Guillot‐Noël, Léna; Russaouen, Odile; Bruneteau, Gaëlle; Pradat, Pierre‐François; Le Forestier, Nadine; Vandenberghe, N.; Danel-Brunaud, Véronique; Guy, Nathalie; Thauvin-Robinet, Christel; Lacomblez, Lucette; Couratier, P.; Hannequin, Didier; Seilhean, Danielle; Le Ber, Isabelle; Corcia, Philippe; Camu, William; Brice, Alexis; A. Rouleau, Guy; Leguern, Eric; Meininger, Vincent

doi:10.1136/jmg.2010.077180

Public

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

Published in Journal of Medical Genetics • Jun 24, 2010

Authors:

Stéphanie Millecamps

François Salachas

C. Cazeneuve

Abstract

BACKGROUND: Mutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been identified in amyotrophic lateral sclerosis (ALS). METHODS: The relative contributions of the different mutations to ALS were estimated by systematically screening a cohort of 162 families enrolled in France and 500 controls (1...

Subject

TARDBP

Amyotrophic lateral sclerosis

Missense mutation

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