[article]
| Titre : |
Biomarker development in Sturge-Weber syndrome |
| Type de document : |
texte imprimé |
| Auteurs : |
Siddharth S. GUPTA, Auteur ; Katharine E. JOSLYN, Auteur ; Kieran D. MCKENNEY, Auteur ; Anne M. COMI, Auteur |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Humans Sturge-Weber Syndrome/diagnosis/genetics/metabolism Biomarkers/metabolism Biomarker EEG biomarkers Gnaq Mri Neurocutaneous syndrome Neuroimaging biomarkers Qeeg Sturge-Weber syndrome Urine angiogenic factor Vascular biomarkers 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. |
| Index. décimale : |
PER Périodiques |
| Résumé : |
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. |
| En ligne : |
https://dx.doi.org/10.1186/s11689-025-09640-6 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 |
in Journal of Neurodevelopmental Disorders > 17 (2025)
[article] Biomarker development in Sturge-Weber syndrome [texte imprimé] / Siddharth S. GUPTA, Auteur ; Katharine E. JOSLYN, Auteur ; Kieran D. MCKENNEY, Auteur ; Anne M. COMI, Auteur. Langues : Anglais ( eng) in Journal of Neurodevelopmental Disorders > 17 (2025)
| Mots-clés : |
Humans Sturge-Weber Syndrome/diagnosis/genetics/metabolism Biomarkers/metabolism Biomarker EEG biomarkers Gnaq Mri Neurocutaneous syndrome Neuroimaging biomarkers Qeeg Sturge-Weber syndrome Urine angiogenic factor Vascular biomarkers 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. |
| Index. décimale : |
PER Périodiques |
| Résumé : |
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. |
| En ligne : |
https://dx.doi.org/10.1186/s11689-025-09640-6 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 |
|  |
Faire une suggestion Affiner la rechercheBiomarker development in Sturge-Weber syndrome / Siddharth S. GUPTA in Journal of Neurodevelopmental Disorders, 17 (2025)
