Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients.

Abstract

Amyotrophic 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.

DOI: 10.1016/j.neurobiolaging.2014.07.016

Cite this paper

@article{Millecamps2014GeneticAO, title={Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients.}, author={St{\'e}phanie Millecamps and Anne Langlois de Septenville and E. Teyssou and Mailys Daniau and Agn{\`e}s Camuzat and Melanie A Albert and Eric Leguern and D Galimberti and Alexis Brice and Yannick Marie and Isabelle le Ber}, journal={Neurobiology of aging}, year={2014}, volume={35 12}, pages={2882.e13-2882.e15} }