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Review
. 2025 Aug 25;17(1):50.
doi: 10.1186/s11689-025-09640-6.

Biomarker development in Sturge-Weber syndrome

Siddharth S Gupta #  1   2   3 , Katharine E Joslyn #  1 , Kieran D McKenney #  1 , Anne M Comi  4   5   6
Affiliations
Review

Biomarker development in Sturge-Weber syndrome

Siddharth S Gupta et al. J Neurodev Disord. .

Abstract

Sturge-Weber Syndrome (SWS) is a congenital neurovascular disorder caused by a somatic mosaic mutation in the R183Q GNAQ gene and characterized by capillary-venous malformations of the brain, skin, and eyes. Clinical manifestations include facial port-wine birthmark, glaucoma, seizures, headache or migraine, hemiparesis, stroke or stroke-like episodes, developmental delay, behavioral problems, and hormonal deficiencies. SWS requires careful monitoring, management, and early identification to improve outcome and prevent neurological deterioration. Over the last 25 years, biomarkers have been developed to improve early diagnosis and prognosis and allow for the monitoring of clinical status and treatment response. Importantly, advancements in biomarker research may enable presymptomatic treatment for infants with SWS. This review summarizes current, ongoing, and potential future SWS biomarker studies. These biomarkers, in combination with clinical data, offer a rich source of data for rare disease research leveraging machine learning in future research.

Keywords: Biomarker; EEG biomarkers; GNAQ; MRI; Neurocutaneous syndrome; Neuroimaging biomarkers; QEEG; Sturge-Weber syndrome; Urine angiogenic factor; Vascular biomarkers.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: Not applicable. Consent for publication: Not applicable. Competing interests: A.M.C. is an inventor on patents related to the R183Q GNAQ mutation in SWS and to the use of cannabidiol for the treatment of SWS; no funding has been received by her from these patents. The remaining authors have no conflicts of interest to disclose.

Figures

Fig. 1
Fig. 1
Biomarkers in Sturge-Weber syndrome. MRI and EEG biomarkers have provided the most robust and clinically relevant biomarkers. Urine angiogenic biomarkers offer promising data for use as affordable and non-invasive biomarkers; however, additional research and replication of past research is required before it can be widely adopted and utilized clinically
See this image and copyright information in PMC

References

    1. Comi AM. Sturge-Weber syndrome. Handb Clin Neurol. 2015;132:157–68. - PubMed
    1. Shirley MD, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013;368(21):1971–9. - PMC - PubMed
    1. Yeom S, Comi AM. Updates on Sturge-Weber syndrome. Stroke. 2022;53(12):3769–79. - PMC - PubMed
    1. Dymerska M, et al. Size of facial Port-Wine birthmark May predict neurologic outcome in Sturge-Weber syndrome. J Pediatr. 2017;188:205–e2091. - PMC - PubMed
    1. Valery CB, et al. Retrospective analysis of presymptomatic treatment in Sturge-Weber syndrome. Ann Child Neurol Soc. 2024;2(1):60–72. - PMC - PubMed

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