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脑脊液生物标志物在突触核蛋白病早期诊断中的应用:以特发性 RBD 为重点。

CSF Biomarkers for Early Diagnosis of Synucleinopathies: Focus on Idiopathic RBD.

机构信息

Sleep Medicine Centre, Department of Systems Medicine, University of Rome 'Tor Vergata', Viale Oxford, 81 00133, Rome, Italy.

Section of Neurology, Department of Medicine, University of Perugia, Perugia, Italy.

出版信息

Curr Neurol Neurosci Rep. 2019 Jan 14;19(2):3. doi: 10.1007/s11910-019-0918-y.

Abstract

PURPOSE OF REVIEW

Idiopathic REM sleep behavior disorder (iRBD) is one of the most significant prodromal manifestations of synucleinopathies. Different predictive biomarkers for iRBD conversion have been investigated, but scarce data are present in literature about the predictive role of cerebrospinal fluid (CSF) biomarkers. In this review, we focus on CSF biomarkers in patients with both iRBD and RBD associated with synucleinopathies to explore their potential predictive power.

RECENT FINDINGS

Recent studies revealed that CSF α-synuclein levels are higher in Parkinson's disease (PD) patients with RBD compared to those without RBD, even if α-synuclein does not seem to predict conversion of iRBD into PD. In the Parkinson Progression Marker Initiative (PPMI) cohort, early PD patients with RBD show lower CSF Aβ levels, which predict faster cognitive decline. CSF prion protein and inflammatory biomarkers have been also investigated in RBD and synucleinopathies with controversial results. A variety of CSF biomarkers are promising candidate for predicting iRBD conversion into synucleinopathies. Further studies are needed in iRBD patients followed for several years in order to observe the phenoconversion in synucleinopathies and to elucidate the possible role of CSF biomarkers as predictive biomarkers of conversion.

摘要

目的综述:特发性 REM 睡眠行为障碍(iRBD)是突触核蛋白病最显著的前驱表现之一。已经研究了 iRBD 转化的不同预测生物标志物,但关于脑脊液(CSF)生物标志物的预测作用的文献数据很少。在这篇综述中,我们重点关注同时患有 iRBD 和与突触核蛋白病相关的 RBD 的患者的 CSF 生物标志物,以探讨其潜在的预测能力。

最新发现:最近的研究表明,与没有 RBD 的 PD 患者相比,有 RBD 的 PD 患者的 CSF α-突触核蛋白水平更高,尽管 α-突触核蛋白似乎不能预测 iRBD 转化为 PD。在帕金森进展标志物倡议(PPMI)队列中,有 RBD 的早期 PD 患者的 CSF Aβ 水平较低,这预示着认知衰退更快。CSF 朊病毒蛋白和炎症生物标志物也在 RBD 和突触核蛋白病中进行了研究,结果存在争议。各种 CSF 生物标志物是预测 iRBD 转化为突触核蛋白病的有前途的候选物。需要对随访多年的 iRBD 患者进行进一步研究,以观察突触核蛋白病中的表型转化,并阐明 CSF 生物标志物作为转化预测生物标志物的可能作用。

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