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Related Experiment Video

Updated: Sep 3, 2025

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Systematic evaluation of genetic mutations in ALS: a population-based study.

Maurizio Grassano1,2, Andrea Calvo3,4, Cristina Moglia3,4

  • 1Department of Neuroscience, University of Turin, Torino, Italy grassano.maurizio@gmail.com.

Journal of Neurology, Neurosurgery, and Psychiatry
|July 27, 2022
PubMed
Summary

Whole-genome sequencing (WGS) offers a high diagnostic yield for Amyotrophic Lateral Sclerosis (ALS), identifying genetic factors in 26.9% of cases. This cost-effective approach should become standard for ALS genetic testing, improving patient management and prognosis.

Keywords:
ALSC9ORFGENETICSMOTOR NEURON DISEASENEUROGENETICS

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Area of Science:

  • Genetics
  • Neurology
  • Genomic Medicine

Background:

  • Genetic diagnosis is crucial for Amyotrophic Lateral Sclerosis (ALS) management, guiding genetic counseling, prognosis, and emerging gene-targeted therapies.
  • Traditional genetic testing methods for ALS are often expensive and time-intensive, limiting accessibility.

Purpose of the Study:

  • To assess the diagnostic effectiveness and benefits of employing whole-genome sequencing (WGS) as a routine genetic diagnostic tool for ALS patients.
  • To evaluate the utility of WGS in identifying genetic variants and expansions in ALS-related genes.

Main Methods:

  • A population-based cohort study involving 1043 ALS patients and 755 healthy controls from the Piemonte and Valle d'Aosta Register for ALS.
  • Whole-genome sequencing (WGS) was performed to screen for variants in 42 known ALS-related genes and for repeat expansions in C9orf72 and ATXN2.

Main Results:

  • A genetic diagnosis was established in 279 ALS cases (26.9%), including 75.2% of patients with a family history and 21.5% of sporadic cases.
  • The mutation rate was significantly higher in early-onset ALS (43.9%) compared to late-onset ALS (19.7%).
  • An additional 14.6% of the cohort possessed genetic factors that negatively impacted prognosis.

Conclusions:

  • Whole-genome sequencing (WGS) demonstrates a high diagnostic yield and decreasing costs, making it a viable standard genetic test for all ALS patients.
  • WGS allows for retrospective analysis of newly identified genes, enhancing its long-term value.
  • The study provides a comprehensive overview of the genetic underpinnings of ALS within the general population.