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

Stéphanie Millecamps, Anne De Septenville, Elisa Teyssou, Mailys Daniau, Agnès Camuzat, Mélanie Albert, Eric LeGuern, Daniela Galimberti, Alexis Brice, Yannick Marie, Isabelle Le Ber

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)2882.e13-2882.e15
JournalNeurobiology of Aging
Volume35
Issue number12
DOIs
Publication statusPublished - Dec 1 2014

Keywords

  • Amyotrophic lateral sclerosis
  • Familial ALS
  • Frontotemporal dementia
  • Frontotemporal lobar degeneration
  • FTD
  • FTLD
  • Genetic analysis
  • MATR3
  • Matrin 3
  • Motor neuron disease

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)
  • Ageing
  • Developmental Biology
  • Geriatrics and Gerontology

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