Evidence map›Paper›PMID 37024676›Full record

ReviewNature reviews. Genetics2023

Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.

Fulya Akçimen, Elia R Lopez, John E Landers, Avindra Nath, Adriano Chiò, Ruth Chia, Bryan J Traynor

Abstract readReview
In one paragraph

Review in Nature reviews. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 137 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
137citing papers in PubMed, 2 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

137 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Tofersen Treatment inMayo Clinic proceedings. Innovations, quality & outcomes · 2026
    Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Deletion of exon 2 in ALS-linkedLife science alliance · 2026
    Article
  11. Beneficial Effects of Putative Hydrogen Sulfide (HMolecules (Basel, Switzerland) · 2026
    Article
  12. Article
  13. Review
  14. Article
  15. LINE-1 Retrotransposons and Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2026
    Review
  16. Genome-Wide Characterization of thePlants (Basel, Switzerland) · 2026
    Article
  17. Article
  18. Article
  19. Review
  20. Article

77 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Fulya AkçimenLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA. fulya.akcimen@nih.gov.ORCID 0000-0003-0931-5247
Elia R LopezTherapeutic Development Branch, National Center for Advancing Translational Sciences, National Institutes of Health, Rockville, MD, USA.
John E LandersDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA, USA.
Avindra NathSection of Infections of the Nervous System, National Institute for Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Adriano ChiòRita Levi Montalcini Department of Neuroscience, University of Turin, Turin, Italy.
Ruth ChiaLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Bryan J TraynorLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA. bryan.traynor@nih.gov.ORCID 0000-0003-0527-2446

Funding

Genome wide SNP analysis in Amyotrophic Lateral SclerosisZIAAG000933 · NIA · NATIONAL INSTITUTE ON AGING · PI TRAYNOR, BRYAN · 2009 to 2025
$9.8M
Genome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6M
Intramural NIH HHS Z01 AG000949Intramural NIH HHS Z99 AG999999Intramural NIH HHS ZIA AG000933
6 · The paper itself

Abstract

Recent advances in sequencing technologies and collaborative efforts have led to substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS). This momentum has, in turn, fostered the development of putative molecular therapies. In this Review, we outline the current genetic knowledge, emphasizing recent discoveries and emerging concepts such as the implication of distinct types of mutation, variability in mutated genes in diverse genetic ancestries and gene-environment interactions. We also propose a high-level model to synthesize the interdependent effects of genetics, environmental and lifestyle factors, and ageing into a unified theory of ALS. Furthermore, we summarize the current status of therapies developed on the basis of genetic knowledge established for ALS over the past 30 years, and we discuss how developing treatments for ALS will advance our understanding of targeting other neurological diseases.

Indexed as

Amyotrophic Lateral SclerosisGene-Environment InteractionHumansMutation

Identifiers

PMID37024676
PMCPMC10611979

What Socratic holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.