Recent advances in establishing fluid biomarkers for the diagnosis and differentiation of alpha-synucleinopathies - a mini review.
Recent advances in establishing fluid biomarkers for the diagnosis and differentiation of alpha-synucleinopathies - a mini review.
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DOI：
10.1007/s10286-022-00882-1
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发表时间：
2022-08
影响因子：
5.8
通讯作者：
Singer, Wolfgang
中科院分区：
文献类型：
--
作者：
Singer, Wolfgang
关键词：
多系统萎缩(MSA)、帕金森病(PD)、路易体痴呆(DLB)的临床鉴别，以及这些共核病与其他神经退行性疾病之间的区别可能是具有挑战性的，特别是在疾病的早期或表现不典型的时候。这也适用于预测有局限性或前驱形式的突触核病患者的命运，如纯自主神经衰竭(PAF)或特发性快速眼动睡眠行为障碍(IRBD)，这些患者有患上MSA、PD或DLB的风险。在讨论了目前共核病的分类概念后，本文简要回顾了最近描述和验证的两种脊髓液生物标志物，即通过蛋白质聚集分析检测到的神经丝轻链和α-突触核蛋白寡聚体，这两种生物标志物不仅显示出巨大的前景，不仅可以作为区别于路易体联核病的标志物，而且还可以作为预测阵发性房颤患者未来表型转化为MSA的标志物。讨论了这些标记的优点和局限性，以及它们如何作为生物标记小组看起来很好地相互补充，增强了这些标记之一的特异性，同时为技术上相当具有挑战性的标记增加了进一步的稳健性和简单性。综述最后对流体生物标记物在这一迅速崛起的领域中可能的下一步发展进行了思考。
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.
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影响因子：
11.2
作者：
Kaufmann H;Norcliffe-Kaufmann L;Palma JA;Biaggioni I;Low PA;Singer W;Goldstein DS;Peltier AC;Shibao CA;Gibbons CH;Freeman R;Robertson D;Autonomic Disorders Consortium
通讯作者：
Autonomic Disorders Consortium
影响因子：
168.9
作者：
Kalia, Lorraine V.;Lang, Anthony E.
通讯作者：
Lang, Anthony E.
影响因子：
12.7
作者：
Hague, K;Lento, P;Kaufmann, H
通讯作者：
Kaufmann, H
影响因子：
9.9
作者：
Coon, Elizabeth A.;Mandrekar, Jay N.;Singer, Wolfgang
通讯作者：
Singer, Wolfgang
影响因子：
8.6
作者：
Kang, Un Jung;Boehme, Amelia K.;Soto, Claudio
通讯作者：
Soto, Claudio