Giannakis Alexandros, Konitsiotis Spiridon, Sioka Chrissa
Department of Neurology, Faculty of Medicine, School of Health Sciences, University of Ioannina, Stavrou Niarchou Av., University Campus, 45500 Ioannina, Greece.
Department of Nuclear Medicine, Faculty of Medicine, School of Health Sciences, University of Ioannina, Stavrou Niarchou Av., University Campus, 45500 Ioannina, Greece.
Medicina (Kaunas). 2025 Apr 11;61(4):701. doi: 10.3390/medicina61040701.
: Despite ongoing research and evolving diagnostic criteria, progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) remain notoriously difficult to differentiate, largely due to their overlapping clinical presentations and the absence of definitive biomarkers. : We provide a comprehensive review of cerebrospinal fluid (CSF) biomarkers, which have proven valuable in the diagnosis of other neurodegenerative conditions, and their application to PSP and CBS. : The most promising results derive from a combination of biomarkers associated with Parkinson's disease, Alzheimer's disease, and neurofilament light chain. Furthermore, CSF proteomics analysis offers valuable insights into the pathogenesis of PSP and CBS and could also contribute to accurate diagnosis. : CSF biomarkers hold significant potential for improving the differential diagnosis of PSP and CBS. A stepwise combination approach-starting with CSF α-synuclein and neurofilament light chain, followed by amyloid-β42 and total and phosphorylated tau-may provide clinicians with a practical framework for distinguishing PSP and CBS from other neurodegenerative disorders. To advance this field, future efforts should prioritize large-scale, multicenter studies employing standardized methodologies to enhance the validity and reproducibility of biomarker-based diagnostics. Importantly, considering the frequent pathological overlap between PSP and CBS, future studies would greatly benefit from pathology-confirmed cohorts to ensure diagnostic accuracy and to better delineate biomarker profiles across these challenging conditions.
尽管一直在进行研究且诊断标准不断演变，但进行性核上性麻痹（PSP）和皮质基底节综合征（CBS）仍然极难鉴别，这主要是由于它们临床表现重叠且缺乏明确的生物标志物。我们全面综述了脑脊液（CSF）生物标志物，这些生物标志物已被证明在其他神经退行性疾病的诊断中具有重要价值，以及它们在PSP和CBS中的应用。最有前景的结果来自与帕金森病、阿尔茨海默病和神经丝轻链相关的生物标志物组合。此外，脑脊液蛋白质组学分析为PSP和CBS的发病机制提供了有价值的见解，也有助于准确诊断。脑脊液生物标志物在改善PSP和CBS的鉴别诊断方面具有巨大潜力。一种逐步组合的方法——从脑脊液α-突触核蛋白和神经丝轻链开始，接着是淀粉样β蛋白42以及总tau蛋白和磷酸化tau蛋白——可能为临床医生提供一个将PSP和CBS与其他神经退行性疾病区分开来的实用框架。为推动该领域发展，未来的工作应优先开展大规模、多中心研究，采用标准化方法以提高基于生物标志物诊断的有效性和可重复性。重要的是，考虑到PSP和CBS之间频繁的病理重叠，未来的研究将极大地受益于经病理证实的队列，以确保诊断准确性，并更好地描绘这些具有挑战性疾病的生物标志物特征。
