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Duchenne muscular dystrophy: recent insights in brain related comorbidities

Author

Listed:
  • Cyrille Vaillend

    (Institut des Neurosciences Paris-Saclay)

  • Yoshitsugu Aoki

    (National Center of Neurology and Psychiatry (NCNP))

  • Eugenio Mercuri

    (Catholic University)

  • Jos Hendriksen

    (School for Mental Health and Neuroscience)

  • Konstantina Tetorou

    (University College London Great Ormond Street Institute of Child Health)

  • Aurelie Goyenvalle

    (END-ICAP)

  • Francesco Muntoni

    (University College London Great Ormond Street Institute of Child Health)

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.

Suggested Citation

  • Cyrille Vaillend & Yoshitsugu Aoki & Eugenio Mercuri & Jos Hendriksen & Konstantina Tetorou & Aurelie Goyenvalle & Francesco Muntoni, 2025. "Duchenne muscular dystrophy: recent insights in brain related comorbidities," Nature Communications, Nature, vol. 16(1), pages 1-12, December.
    • Handle: RePEc:nat:natcom:v:16:y:2025:i:1:d:10.1038_s41467-025-56644-w
    DOI: 10.1038/s41467-025-56644-w
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