Genetic analysis of CHCHD10 in French familial amyotrophic lateral sclerosis patients

Neurobiol Aging. 2016 Jun:42:218.e1-3. doi: 10.1016/j.neurobiolaging.2016.03.022. Epub 2016 Mar 24.

Abstract

Mutations in CHCHD10 have been reported as the cause of a large panel of neurologic disorders. To confirm the contribution of this gene to amyotrophic lateral sclerosis (ALS) disease, we analyzed the 4 coding exons of CHCHD10 by Sanger sequencing in a cohort of 118 French familial ALS already excluded for all known ALS-related genes. We did not find any pathogenic mutation suggesting that CHCHD10 is not a major genetic cause of familial ALS, in France.

Keywords: Amyotrophic lateral sclerosis; Familial ALS; Frontotemporal dementia; Genetic analysis; Motor neuron disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Cohort Studies
  • Exons / genetics
  • Female
  • France
  • Frontotemporal Dementia / genetics
  • Genetic Association Studies*
  • Humans
  • Male
  • Mitochondrial Proteins / genetics*
  • Mutation*
  • Sequence Analysis

Substances

  • CHCHD10 protein, human
  • Mitochondrial Proteins