Division of Molecular Medicine, Ruder Boskovic Institute, Zagreb, Croatia.
University of Applied Sciences Hrvatsko Zagorje Krapina, Krapina, Croatia.
Expert Rev Neurother. 2024 Nov;24(11):1063-1079. doi: 10.1080/14737175.2024.2400683. Epub 2024 Sep 4.
The importance of cerebrospinal fluid (CSF) biomarkers in Alzheimer's disease (AD) diagnosis is rapidly increasing, and there is a growing interest in the use of CSF biomarkers in monitoring the response to therapy, especially in the light of newly available approaches to the therapy of neurodegenerative diseases.
In this review we discuss the most relevant measures of neurodegeneration that are being used to distinguish patients with AD from healthy controls and individuals with mild cognitive impairment, in order to provide an overview of the latest information available in the scientific literature. We focus on markers related to amyloid processing, markers associated with neurofibrillary tangles, neuroinflammation, neuroaxonal injury and degeneration, synaptic loss and dysfunction, and markers of α-synuclein pathology.
In addition to neuropsychological evaluation, core CSF biomarkers (Aβ, t-tau, and p-tau181) have been recommended for improvement of timely, accurate and differential diagnosis of AD, as well as to assess the risk and rate of disease progression. In addition to the core CSF biomarkers, various other markers related to synaptic dysfunction, neuroinflammation, and glial activation (neurogranin, SNAP-25, Nfl, YKL-40, TREM2) are now investigated and have yet to be validated for future potential clinical use in AD diagnosis.
脑脊液（CSF）生物标志物在阿尔茨海默病（AD）诊断中的重要性正在迅速增加，人们越来越关注在治疗反应监测中使用 CSF 生物标志物，特别是在神经退行性疾病治疗方面有了新的方法。
在这篇综述中，我们讨论了目前用于区分 AD 患者与健康对照和轻度认知障碍个体的最相关的神经退行性变测量指标，以提供科学文献中最新信息的概述。我们重点介绍了与淀粉样蛋白处理、神经原纤维缠结相关标志物、神经炎症、神经轴突损伤和变性、突触丧失和功能障碍以及α-突触核蛋白病理学标志物相关的标志物。
除了神经心理学评估外，核心 CSF 生物标志物（Aβ、t-tau 和 p-tau181）已被推荐用于改善 AD 的及时、准确和鉴别诊断，以及评估疾病进展的风险和速度。除了核心 CSF 生物标志物外，现在还研究了其他与突触功能障碍、神经炎症和神经胶质激活相关的各种标志物（神经颗粒蛋白、SNAP-25、Nfl、YKL-40、TREM2），它们尚未经过验证，未来可能在 AD 诊断中具有临床应用潜力。
