Bougea Anastasia, Colosimo Carlo, Falup-Pecurariu Cristian, Palermo Giovanni, Degirmenci Yildiz
1st Department of Neurology, Medical School, Eginition Hospital, National and Kapodistrian University of Athens, 11528, Athens, Greece.
Department of Neurology, Santa Maria University Hospital, Terni, Italy.
J Neural Transm (Vienna). 2025 May 20. doi: 10.1007/s00702-025-02930-2.
Diagnosing Atypical Parkinsonian Syndromes (APS) may be challenging due to overlapping clinical features of Parkinson's disease (PD), and the lack of pathognomonic diagnostic tests. Fluid biomarkers can be useful tools that make it easier to identify and track different APS. Objectives: this narrative review aim to update the current state of fluid biomarker research in APS and their potential implications in clinical practice. A comprehensive literature search was conducted in PubMed and Scopus using the following terms: "Aβ42 amyloid beta with 42 amino acids'', " alpha-synuclein'', "Atypical Parkinsonian Syndromes'', "corticobasaldegeneration'', "C reactive protein'', "cerebrospinal fluid'', "dementia with Lewy bodies'', "multiple system atrophy'', "neurofilament light, oligomericαsyn, phosphorylated α -syn'', "tau phosphorylated at threonine 181'', "progressive supranuclear palsy'', "Seeding Amplification Assay'', "t-tau; total tau". The lack of high-affinity α-syn antibodies and ligands may contribute to α-syn's low efficacy as a diagnostic biomarker of APS. Cerebrospinal fluid (CSF) biomarkers reflecting Alzheimer pathology, axonal damage (neurofilament light chain) add valuable diagnostic and prognostic information in the neurochemical characterization of APS. Inflammatoryand microRNAs markers need to be further validated before their clinical use. Seeding Amplification Assays (SAA), despite their high sensitivity and specificity, are at this point used only as a research tool, and they are not quantitative or reflective of disease severity. Biomarker research for early identification and prognosis of APS patients requires multicenter collaboration, validation, and AI-based diagnostics, despite immature biological classification systems.
由于帕金森病(PD)的临床特征重叠,且缺乏特异性诊断测试,诊断非典型帕金森综合征(APS)可能具有挑战性。液体生物标志物可以成为有助于识别和追踪不同APS的有用工具。目的:本叙述性综述旨在更新APS中液体生物标志物研究的现状及其在临床实践中的潜在意义。使用以下术语在PubMed和Scopus中进行了全面的文献检索:“具有42个氨基酸的β淀粉样蛋白Aβ42”、“α-突触核蛋白”、“非典型帕金森综合征”、“皮质基底节变性”、“C反应蛋白”、“脑脊液”、“路易体痴呆”、“多系统萎缩”、“神经丝轻链、寡聚α-突触核蛋白、磷酸化α-突触核蛋白”、“苏氨酸181磷酸化的tau蛋白”、“进行性核上性麻痹”、“种子扩增测定法”、“总tau蛋白(t-tau)”。缺乏高亲和力的α-突触核蛋白抗体和配体可能导致α-突触核蛋白作为APS诊断生物标志物的功效较低。反映阿尔茨海默病病理、轴突损伤(神经丝轻链)的脑脊液(CSF)生物标志物在APS的神经化学特征分析中增加了有价值的诊断和预后信息。炎症和微小RNA标志物在临床应用前需要进一步验证。种子扩增测定法(SAA)尽管具有高灵敏度和特异性,但目前仅用作研究工具,它们不是定量的,也不能反映疾病严重程度。尽管生物分类系统尚不成熟,但APS患者早期识别和预后的生物标志物研究仍需要多中心合作、验证和基于人工智能的诊断方法。