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近年来,建立用于诊断和区分α-突触核蛋白病的液体生物标志物的研究进展——综述。

Recent advances in establishing fluid biomarkers for the diagnosis and differentiation of alpha-synucleinopathies - a mini review.

机构信息

Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.

出版信息

Clin Auton Res. 2022 Aug;32(4):291-297. doi: 10.1007/s10286-022-00882-1. Epub 2022 Jul 27.

Abstract

The clinical differentiation between multiple system atrophy (MSA), Parkinson's disease (PD), dementia with Lewy bodies (DLB), as well as the distinction between these synucleinopathies from other neurodegenerative disorders can be challenging, particularly at early disease stages or when the presentation is atypical. That is also true for predicting the fate of patients with limited or prodromal forms of synucleinopathies such as pure autonomic failure (PAF) or idiopathic REM-sleep behavior disorder (iRBD) which are known to be at risk of developing MSA, PD, or DLB. After discussing current classification concepts of the synucleinopathies, this invited mini-review reflects on two recently described and validated spinal fluid biomarkers, namely neurofilament light chain (NfL) and α-synuclein oligomers detected by protein aggregation assays, that have shown great promise not only as markers differentiating MSA from the Lewy-body synucleinopathies but also as markers that predict future phenoconversion to MSA among patients with PAF. Discussed are the strengths and limitations of these markers, and how they appear to complement each other nicely as a biomarker panel, enhancing the specificity of one of these markers, yet adding further robustness and simplicity to a marker that is technically rather challenging. The review concludes with thoughts on potential next steps in the development of fluid biomarkers in this rapidly emerging field.

摘要

多系统萎缩症 (MSA)、帕金森病 (PD)、路易体痴呆 (DLB) 的临床鉴别以及这些突触核蛋白病与其他神经退行性疾病的区分具有挑战性,尤其是在疾病早期或表现不典型时。对于预测有限或前驱形式的突触核蛋白病患者的预后也同样如此,例如已知有发展为 MSA、PD 或 DLB 风险的单纯自主神经衰竭 (PAF) 或特发性 REM 睡眠行为障碍 (iRBD)。在讨论了突触核蛋白病的当前分类概念后,这篇特邀小型综述反思了最近描述和验证的两种脑脊液生物标志物,即神经丝轻链 (NfL) 和通过蛋白聚集测定检测到的 α-突触核蛋白寡聚物,它们不仅显示出作为区分 MSA 与路易体突触核蛋白病的标志物的巨大潜力,而且还可以作为预测 PAF 患者向 MSA 发生表型转化的标志物。讨论了这些标志物的优势和局限性,以及它们作为生物标志物组合如何相互补充,增强了其中一个标志物的特异性,同时为技术上具有挑战性的标志物增加了进一步的稳健性和简单性。该综述以对这个快速发展领域中液体生物标志物的潜在下一步发展的思考结束。

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