Biomarker development in Sturge-Weber syndrome.

IF 4 2区医学 Q1 CLINICAL NEUROLOGY

Journal of Neurodevelopmental Disorders Pub Date : 2025-08-25 DOI:10.1186/s11689-025-09640-6

Siddharth S Gupta, Katharine E Joslyn, Kieran D McKenney, Anne M Comi

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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.

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斯特奇-韦伯综合征的生物标志物发展。

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，以大脑、皮肤和眼睛的毛细血管畸形为特征。临床表现包括面部葡萄酒胎记、青光眼、癫痫、头痛或偏头痛、偏瘫、中风或中风样发作、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，以改善预后并防止神经系统恶化。在过去的25年里，生物标志物已经被开发出来，以改善早期诊断和预后，并允许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婴儿的症状前治疗成为可能。本文综述了目前、正在进行和潜在的未来SWS生物标志物研究。这些生物标志物与临床数据相结合，为未来研究中利用机器学习的罕见疾病研究提供了丰富的数据来源。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Neurodevelopmental Disorders 医学-临床神经学

CiteScore

7.60

自引率

4.10%

发文量

审稿时长

>12 weeks

期刊介绍： Journal of Neurodevelopmental Disorders is an open access journal that integrates current, cutting-edge research across a number of disciplines, including neurobiology, genetics, cognitive neuroscience, psychiatry and psychology. The journal’s primary focus is on the pathogenesis of neurodevelopmental disorders including autism, fragile X syndrome, tuberous sclerosis, Turner Syndrome, 22q Deletion Syndrome, Prader-Willi and Angelman Syndrome, Williams syndrome, lysosomal storage diseases, dyslexia, specific language impairment and fetal alcohol syndrome. With the discovery of specific genes underlying neurodevelopmental syndromes, the emergence of powerful tools for studying neural circuitry, and the development of new approaches for exploring molecular mechanisms, interdisciplinary research on the pathogenesis of neurodevelopmental disorders is now increasingly common. Journal of Neurodevelopmental Disorders provides a unique venue for researchers interested in comparing and contrasting mechanisms and characteristics related to the pathogenesis of the full range of neurodevelopmental disorders, sharpening our understanding of the etiology and relevant phenotypes of each condition.