Motor neuron disease in 2012: Novel causal genes and disease modifiers

Nat Rev Neurol. 2013 Feb;9(2):63-4. doi: 10.1038/nrneurol.2012.276. Epub 2013 Jan 15.

Abstract

In 2012, researchers published extensively on the genetic and clinicopathological characterization of patients with the newly discovered C9ORF72 repeat expansions, which cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Novel ALS-linked genes and genetic modifiers were identified through screening in animal models and patients.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics
  • Animals
  • Chromosomes, Human, Pair 9 / genetics
  • DNA-Binding Proteins / genetics
  • Disease Models, Animal
  • Disease Progression
  • Frontotemporal Dementia / genetics
  • Gene Deletion
  • Genome-Wide Association Study
  • Humans
  • Mice
  • Motor Neuron Disease / drug therapy*
  • Motor Neuron Disease / genetics*
  • Open Reading Frames / genetics
  • Rats
  • Zebrafish

Substances

  • DNA-Binding Proteins