Section of Neurology, Department of Medicine and Surgery, University of Perugia, Perugia, Italy.
Expert Rev Mol Diagn. 2024 Oct;24(10):885-898. doi: 10.1080/14737159.2024.2403073. Epub 2024 Sep 18.
Diagnostic criteria for Parkinson's disease (PD) rely on clinical, mainly motor, features, implying that pre-motor phase cannot be accurately identified. To achieve a reliable early diagnosis, similar to what has been done for Alzheimer's disease (AD), a shift from clinical to biological identification of PD is being pursued. This shift has taken great advantage from the research on cerebrospinal fluid (CSF) biomarkers as they mirror the ongoing molecular pathogenic mechanisms taking place in PD, thus intercepting the disease timely with respect to clinical manifestations.
CSF α-synuclein seed amplification assay (αS-SAA) has emerged as the most promising biomarker of α-synucleinopathy. CSF biomarkers reflecting AD-pathology and axonal damage (neurofilament light chain) and a novel marker of dopaminergic dysfunction (DOPA decarboxylase) add valuable diagnostic and prognostic information in the neurochemical characterization of PD.
A biological classification system of PD, encompassing pathophysiological and staging biomarkers, might ensure both early identification and prognostic characterization of the patients. This approach could allow for the best setting for disease-modifying treatments which are currently under investigation.
帕金森病(PD)的诊断标准依赖于临床,主要是运动特征,这意味着无法准确识别前驱期。为了实现可靠的早期诊断,类似于对阿尔茨海默病(AD)所做的那样,人们正在从临床识别转向 PD 的生物学识别。这种转变从脑脊液(CSF)生物标志物的研究中受益匪浅,因为它们反映了 PD 中正在发生的分子发病机制,从而及时拦截与临床表现相关的疾病。
α-突触核蛋白种子扩增测定法(αS-SAA)已成为最有前途的α-突触核蛋白病生物标志物。反映 AD 病理学和轴突损伤的 CSF 生物标志物(神经丝轻链)以及一种新的多巴胺能功能障碍标志物(DOPA 脱羧酶)在 PD 的神经化学特征中增加了有价值的诊断和预后信息。
一个包含病理生理和分期生物标志物的 PD 生物学分类系统,可能可以确保患者的早期识别和预后特征。这种方法可以为目前正在研究的疾病修饰治疗提供最佳设置。