Gupta Siddharth S, Joslyn Katharine E, McKenney Kieran D, Comi Anne M
Department of Neurology and Developmental Medicine, Hugo Moser Kennedy Krieger Research Institute, Baltimore, MD, USA.
Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA.
J Neurodev Disord. 2025 Aug 25;17(1):50. doi: 10.1186/s11689-025-09640-6.
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.
斯特奇-韦伯综合征（SWS）是一种先天性神经血管疾病，由R183Q GNAQ基因的体细胞镶嵌突变引起，其特征为脑、皮肤和眼睛的毛细血管-静脉畸形。临床表现包括面部葡萄酒色斑、青光眼、癫痫发作、头痛或偏头痛、偏瘫、中风或类中风发作、发育迟缓、行为问题和激素缺乏。SWS需要仔细监测、管理和早期识别，以改善预后并预防神经功能恶化。在过去25年中，已开发出生物标志物以改善早期诊断和预后，并监测临床状态和治疗反应。重要的是，生物标志物研究的进展可能使SWS婴儿能够进行症状前治疗。本综述总结了当前、正在进行的以及未来可能的SWS生物标志物研究。这些生物标志物与临床数据相结合，为未来利用机器学习进行罕见病研究提供了丰富的数据来源。
