The epidemiology of ALS: a conspiracy of genes, environment and time

  title={The epidemiology of ALS: a conspiracy of genes, environment and time},
  author={Ammar Al-Chalabi and Orla Hardiman},
  journal={Nature Reviews Neurology},
Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive neurodegenerative disease of motor neurons, resulting in worsening weakness of voluntary muscles until death from respiratory failure occurs after about 3 years. Although great advances have been made in our understanding of the genetic causes of ALS, the contribution of environmental factors has been more difficult to assess. Large-scale studies of the clinical patterns of ALS, individual histories preceding the onset of ALS… 

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This review will delineate the clinical features of ALS, outline the major ALS-related genes, and summarize the possible genotype-phenotype correlations of ALS.

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The natural history of primary lateral sclerosis

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The authors mention, some patients only have lower motor neuron (LMN) signs in familial ALS (FALS) with SOD1 mutations, and the current diagnostic criteria need to be modified.

Proposed criteria for familial amyotrophic lateral sclerosis

  • S. ByrneP. Bede O. Hardiman
  • Psychology, Medicine
    Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
  • 2011
Criteria for FALS is proposed that incorporate family history and genetic analysis to increase the yield of genes causing FALS and to facilitate comparative interpretation of epidemiological and genetic FALS data.

Epidemiologic Investigations of Amyotrophic Lateral Sclerosis

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