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进行性核上性麻痹、皮质基底节综合征及相关疾病血清生物标志物的叙述性综述。

A narrative review of serum biomarkers in progressive supranuclear palsy, corticobasal syndrome, and related disorders.

作者信息

Giannakis Alexandros, Konitsiotis Spiridon, Sioka Chrissa

机构信息

Department of Neurology, University Hospital of Ioannina, 1 Stavrou Niarchou Av, Ioannina, 45500, Greece.

Department of Neurology, Faculty of Medicine, School of Health Sciences, University of Ioannina, University Campus, Ioannina, 45500, Greece.

出版信息

J Neural Transm (Vienna). 2025 May 30. doi: 10.1007/s00702-025-02955-7.

Abstract

This narrative review evaluates the diagnostic potential of serum biomarkers for progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and related neurodegenerative diseases. Hyperphosphorylated tau species (p-tau), particularly p-tau217 and p-tau181, show promise in distinguishing PSP and CBS from other neurodegenerative diseases, though not from each other. While serum neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) exhibit limited individual utility, their combination with p-tau species enhances diagnostic accuracy. Other genome-associated, inflammatory, metabolic biomarkers, and neuropeptides yield interesting though inconsistent results. The majority of serum biomarkers yielded non-specific results in differentiating PSP and/or CBS from each other and from other related neurodegenerative diseases. Future large-scale, multi-center studies with autopsy confirmation in early-stage patients are essential for developing reliable biomarker panels. Direct comparative studies of PSP and CBS subtypes are also necessary for accurate phenotypic discrimination.

摘要

本叙述性综述评估了血清生物标志物对进行性核上性麻痹(PSP)、皮质基底节综合征(CBS)及相关神经退行性疾病的诊断潜力。过度磷酸化的tau蛋白种类(p-tau),特别是p-tau217和p-tau181,在将PSP和CBS与其他神经退行性疾病区分开来方面显示出前景,不过无法区分PSP和CBS。虽然血清神经丝轻链(NfL)和胶质纤维酸性蛋白(GFAP)的个体效用有限,但它们与p-tau蛋白种类相结合可提高诊断准确性。其他与基因组相关的、炎症性的、代谢性生物标志物以及神经肽虽产生了有趣的结果,但并不一致。大多数血清生物标志物在区分PSP和/或CBS彼此之间以及与其他相关神经退行性疾病时产生非特异性结果。未来针对早期患者进行尸检确认的大规模、多中心研究对于开发可靠的生物标志物组合至关重要。对PSP和CBS亚型进行直接比较研究对于准确的表型鉴别也很有必要。

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