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An Update on Laboratory-Based Diagnostic Biomarkers for Multiple Sclerosis and Beyond.
Clinical Chemistry ( IF 7.1 ) Pub Date : 2022-09-01 , DOI: 10.1093/clinchem/hvac061
Ruba S Saadeh 1 , Paola A Ramos 1 , Alicia Algeciras-Schimnich 1 , Eoin P Flanagan 1, 2 , Sean J Pittock 1, 2 , Maria Alice Willrich 1
Affiliation  

BACKGROUND Multiple sclerosis (MS) is an immune-mediated central nervous system (CNS) inflammatory demyelinating disease in which analysis of clinical presentation, imaging studies, and laboratory tests aid in diagnosis. CONTENT This review discusses laboratory tests ordered to rule out and rule in MS, such as the traditional measurement of cerebrospinal fluid (CSF) IgG index and oligoclonal bands. Biomarkers discovered in the past 2 decades, such as aquaporin-4 (AQP4) antibodies and myelin oligodendrocyte glycoprotein (MOG) antibodies, have been incorporated into clinical practice in the diagnosis of disorders referred to as MS mimics. The importance of test selection, assay methodology, optimal sample for testing, and diagnostic utility of these biomarkers is reviewed. Other laboratory testing that can aid in the differentiation between MS and these biomarker-defined CNS demyelinating diseases is described. There is a focus on emerging biomarkers such as the use of kappa immunoglobulin free light chain concentration in CSF and kappa CSF index measurement as an alternative to oligoclonal bands which has a potential for an improvement in laboratory workflows. Finally, the role of biomarkers of disease activity and prognosis are discussed, including neurofilament light chain, glial fibrillary acidic protein, and myelin basic protein. Future perspectives with improved laboratory testing tools and discovery of additional biomarkers are provided. SUMMARY Laboratory testing for demyelinating disorders using CSF and serum are routine practices that can benefit from an update, as novel biomarker-defined entities have reduced the potential for MS misdiagnosis, and CSF/serum biomarkers reinstated in the diagnostic criteria of MS.

中文翻译:

基于实验室的多发性硬化及其他诊断生物标志物的更新。

背景多发性硬化症(MS)是一种免疫介导的中枢神经系统(CNS)炎性脱髓鞘疾病,其中临床表现分析、影像学研究和实验室检查有助于诊断。内容 本综述讨论了用于排除和排除 MS 的实验室检查,例如脑脊液 (CSF) IgG 指数和寡克隆带的传统测量。在过去 20 年中发现的生物标志物,如水通道蛋白 4 (AQP4) 抗体和髓鞘少突胶质细胞糖蛋白 (MOG) 抗体,已被纳入临床实践,用于诊断称为 MS 模拟的疾病。审查了这些生物标志物的测试选择、测定方法、最佳测试样本和诊断效用的重要性。描述了其他有助于区分 MS 和这些生物标志物定义的中枢神经系统脱髓鞘疾病的实验室测试。重点关注新兴的生物标志物,例如使用 CSF 中的κ免疫球蛋白游离轻链浓度和κCSF指数测量作为寡克隆带的替代方案,这有可能改善实验室工作流程。最后,讨论了疾病活动和预后的生物标志物的作用,包括神经丝轻链、胶质原纤维酸性蛋白和髓鞘碱性蛋白。提供了改进实验室测试工具和发现其他生物标志物的未来前景。总结 使用 CSF 和血清对脱髓鞘疾病进行实验室检测是常规做法,可以从更新中受益,
更新日期:2022-08-08
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