Agin-Liebes Julian, Lodge Alexandra, Reddy Hasini, Vacchi Elena, Usseglio John, Honig Lawrence S, Melli Giorgia, Noble James M, Przedborski Serge
Movement Disorders Division, Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
University Hospital North Tees, Stockton-on-Tees, UK.
Lancet Neurol. 2025 Aug;24(8):681-697. doi: 10.1016/S1474-4422(25)00194-2.
The discovery that α-synuclein can be detected in peripheral tissues of patients with Parkinson's disease and other synucleinopathies spurred the development of biomarker assays, including the α-synuclein seed amplification assay for CSF and immunofluorescence detection of dermal phosphorylated-α-synuclein. These tools aim to identify pathological α-synuclein changes, even at the early stages of disease, with the goal of eventually enabling differentiation of Parkinson's disease from other neurodegenerative disorders, including tauopathies. α-synuclein biomarkers add a biological component to the traditional clinical diagnosis of Parkinson's disease, with potential for development of complementary clinical and pathobiological frameworks for Parkinson's disease and related movement disorders. However, use of existing α-synuclein biomarkers is restricted to research settings due to variable sensitivity and specificity, restricted availability of neuropathological data for validation, and scarcity of longitudinal studies. Addressing these limitations is crucial for advancing clinical and biological disease definitions, which will be essential for the development of disease-modifying therapies.
在帕金森病及其他突触核蛋白病患者的外周组织中可检测到α-突触核蛋白,这一发现推动了生物标志物检测方法的发展,包括用于脑脊液的α-突触核蛋白种子扩增检测以及真皮磷酸化α-突触核蛋白的免疫荧光检测。这些工具旨在识别病理性α-突触核蛋白变化,即使在疾病早期,最终目标是能够将帕金森病与其他神经退行性疾病(包括tau蛋白病)区分开来。α-突触核蛋白生物标志物为帕金森病的传统临床诊断增添了生物学成分,有可能为帕金森病及相关运动障碍开发互补的临床和病理生物学框架。然而,由于敏感性和特异性各异、用于验证的神经病理学数据有限以及纵向研究稀缺,现有α-突触核蛋白生物标志物的应用仅限于研究环境。解决这些局限性对于推进临床和生物学疾病定义至关重要,而这对于开发疾病修饰疗法必不可少。