Evidence map›Paper›PMID 39900900›Full record

ReviewNature communications2025

Duchenne muscular dystrophy: recent insights in brain related comorbidities.

Cyrille Vaillend, Yoshitsugu Aoki, Eugenio Mercuri, Jos Hendriksen, Konstantina Tetorou, Aurelie Goyenvalle, Francesco Muntoni

Abstract readReview
In one paragraph

Review in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed, 1 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

36 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
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  5. Article
  6. Review
  7. Observational
  8. Article
  9. Article
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  12. Dystrophinopathy with aPCN reports : psychiatry and clinical neurosciences · 2026
    Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Dystrophin rescue in the brain for DMD.Molecular therapy. Nucleic acids · 2026
    Article
  19. Review
  20. Article
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.

Cyrille Vaillend *Université Paris-Saclay, CNRS, Institut des Neurosciences Paris-Saclay, 91400, Saclay, Paris, France.
Yoshitsugu Aoki *Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, 187-8502, Japan.ORCID http://orcid.org/0000-0002-9038-7506
Eugenio Mercuri *Department of Paediatric Neurology, Catholic University, Rome, Italy.
Jos HendriksenKempenhaeghe Centre for Neurological Learning Disabilities, Heeze, the Netherlands; Maastricht University, School for Mental Health and Neuroscience, Maastricht, the Netherlands. hendriksenj@kempenhaeghe.nl.
Konstantina TetorouUniversity College London Great Ormond Street Institute of Child Health, London, UK.
Aurelie GoyenvalleUniversité Paris-Saclay, UVSQ, Inserm, END-ICAP, 78000, Versailles, France. aurelie.goyenvalle@uvsq.fr.ORCID http://orcid.org/0000-0003-3938-1165
Francesco MuntoniUniversity College London Great Ormond Street Institute of Child Health, London, UK. f.muntoni@ucl.ac.uk.ORCID http://orcid.org/0000-0002-9102-5232

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy, arises from DMD gene mutations, affecting the production of muscle dystrophin protein. Brain dystrophin-gene products are also transcribed via internal promoters. Their deficiency contributes to comorbidities, including intellectual disability ( ~ 22% of patients), autism ( ~ 6%) and attention deficit disorders ( ~ 18%), representing a major unmet need for patients and families. Thus, improvement of their diagnosis and treatment is needed. Dystrophic mouse models exhibit similar phenotypes, where genetic therapies restoring brain dystrophins improve their behaviour. This suggests that future genetic therapies could address both muscle and brain dysfunction in DMD patients.

Indexed as

BrainMuscular Dystrophy, DuchenneAnimalsAttention Deficit Disorder with HyperactivityAutistic DisorderComorbidityDisease Models, AnimalDystrophinGenetic TherapyHumansIntellectual DisabilityMiceMutationDystrophin

Identifiers

PMID39900900
PMCPMC11790952

What OpenQuestion holds

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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 OpenQuestion graph.