• Stéphanie Millecamps, Anne De Septenville, Elisa Teyssou, Mailys Daniau, Agnès Camuzat, Mélanie Albert, Eric LeGuern, Daniela Galimberti, French research network on FTD and FTD-ALS, Alexis Brice, Yannick Marie, and Isabelle Le Ber.
• Institut du Cerveau et de la Moelle épinière (ICM), CNRS UMR 7225, Inserm U 1127, Sorbonne Universités, Université Pierre et Marie, Univ Paris 06, UPMC-P6 UMR S 1127 - Hôpital Pitié-Salpêtrière, Paris, France. Electronic address: stephanie.millecamps@upmc.fr.
• Neurobiol. Aging. 2014 Dec 1; 35 (12): 2882.e13-2882.e15.

AbstractAmyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are adult-onset neurodegenerative diseases with overlapping clinical characteristics. They share common genetic causes and pathologic hallmarks such as TDP-43 neuronal accumulations. Recently, exome analysis identified mutations in matrin 3 (MATR3) gene in patients with familial ALS, suggesting a role for this gene in the pathogenesis of the disease. MATR3 is a nuclear matrix protein with DNA and RNA binding domains that interacts with TDP-43. To confirm the contribution of MATR3 to ALS, we studied a French cohort of 153 familial ALS or ALS/FTLD patients, without finding any variant. We conclude that mutations in MATR3 are rare in French familial ALS and ALS with FTLD patients. Copyright © 2014 Elsevier Inc. All rights reserved.

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