The changing scene of amyotrophic lateral sclerosis

Nat Rev Neurosci. 2013 Apr;14(4):248-64. doi: 10.1038/nrn3430. Epub 2013 Mar 6.


Several recent breakthroughs have provided notable insights into the pathogenesis of amyotrophic lateral sclerosis (ALS), with some even shifting our thinking about this neurodegenerative disease and raising the question as to whether this disorder is a proteinopathy, a ribonucleopathy or both. In addition, these breakthroughs have revealed mechanistic links between ALS and frontotemporal dementia, as well as between ALS and other neurodegenerative diseases, such as the cerebellar atrophies, myotonic dystrophy and inclusion body myositis. Here, we summarize the new findings in ALS research, discuss what they have taught us about this disease and examine issues that are still outstanding.

Trial registration: NCT01348451 NCT01640067.

Publication types

  • Review

MeSH terms

  • Amyotrophic Lateral Sclerosis / diagnosis
  • Amyotrophic Lateral Sclerosis / etiology*
  • Amyotrophic Lateral Sclerosis / genetics
  • Animals
  • Frontotemporal Dementia / diagnosis
  • Frontotemporal Dementia / genetics
  • Humans
  • Mutation / genetics*
  • RNA-Binding Proteins / genetics*


  • RNA-Binding Proteins

Associated data