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Related Experiment Video

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Biomarker development in Sturge-Weber syndrome.

Siddharth S Gupta1,2,3, Katharine E Joslyn1, Kieran D McKenney1

  • 1Department of Neurology and Developmental Medicine, Hugo Moser Kennedy Krieger Research Institute, Baltimore, MD, USA.

Journal of Neurodevelopmental Disorders
|August 24, 2025
PubMed
Summary

Sturge-Weber Syndrome (SWS) is a rare neurovascular disorder. Biomarker research offers hope for earlier diagnosis, improved prognosis, and potential presymptomatic treatment in infants.

Keywords:
BiomarkerEEG biomarkersGNAQMRINeurocutaneous syndromeNeuroimaging biomarkersQEEGSturge-Weber syndromeUrine angiogenic factorVascular biomarkers

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Area of Science:

  • Genetics and Neurology
  • Rare Disease Research
  • Biomarker Development

Background:

  • Sturge-Weber Syndrome (SWS) is a congenital neurovascular disorder linked to the R183Q GNAQ gene mutation.
  • It presents with diverse clinical features affecting the brain, skin, and eyes, including port-wine birthmarks, glaucoma, and seizures.
  • Effective management and early identification are crucial for preventing neurological decline.

Purpose of the Study:

  • To review current, ongoing, and future research on biomarkers for Sturge-Weber Syndrome.
  • To highlight the role of biomarkers in early diagnosis, prognosis, and monitoring treatment response.
  • To explore the potential of biomarkers for presymptomatic interventions in infants with SWS.

Main Methods:

  • Comprehensive literature review of SWS biomarker studies over the past 25 years.
  • Analysis of biomarker development for diagnosis, prognosis, and treatment monitoring.
  • Discussion of emerging trends and future directions in SWS biomarker research.

Main Results:

  • Biomarkers have been developed over the last 25 years to aid in the early diagnosis and prognosis of SWS.
  • These biomarkers facilitate monitoring of clinical status and response to treatment.
  • Advancements in biomarker research hold promise for enabling presymptomatic treatment strategies.

Conclusions:

  • Biomarkers are essential tools for improving outcomes in Sturge-Weber Syndrome.
  • Future research integrating biomarkers with clinical data and machine learning can advance rare disease understanding.
  • Early identification and intervention, potentially guided by biomarkers, are key to managing SWS.