Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD)

Trends Genet. 2015 May;31(5):263-73. doi: 10.1016/j.tig.2015.03.005. Epub 2015 Apr 10.


Several genetic causes have been recently described for neurological diseases, increasing our knowledge of the common pathological mechanisms involved in these disorders. Mutation analysis has shown common causative factors for two major neurodegenerative disorders, ALS and FTD. Shared pathological and genetic markers as well as common neurological signs between these diseases have given rise to the notion of an ALS/FTD spectrum. This overlap among genetic factors causing ALS/FTD and the coincidence of mutated alleles (including causative, risk and modifier variants) have given rise to the notion of an oligogenic model of disease. In this review we summarize major advances in the elucidation of novel genetic factors in these diseases which have led to a better understanding of the common pathogenic factors leading to neurodegeneration.

Publication types

  • Review

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Animals
  • Disease Models, Animal
  • Frontotemporal Dementia / genetics*
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Genetic Variation
  • Humans
  • Inheritance Patterns
  • Risk Factors
  • Translational Research, Biomedical

Supplementary concepts

  • Frontotemporal Dementia With Motor Neuron Disease