Increased Serum Neurofilament Light Chain Levels in Parkinson's Disease Patients Carrying the p.A53T SNCA Mutation: Data from the Parkinson's Progression Markers Initiative Study
作者信息Nikolaos Papagiannakis, Christos Koros, Athina-Maria Simitsi, Leonidas Stefanis, and The Parkinson's Progression Markers Initiative, Kenneth Marek, Tanya Simuni, Andrew Siderowf, Caroline Tanner, Thomas F Tropea, Tatiana Foroud, Lana Chahine, Brit Mollenhauer, Kalpana Merchant, Douglas Galasko, Christopher Coffey, Kathleen Poston, Roseanne Dobkin, Ethan Brown, Roy Alcalay, Dan Weintraub, Emily Flagg, Kimberly Fabrizio, Susan Bressman, Cornelis Blauwendraat, Paola Casalin, Sonya Dumanis, Raymond James, Karl Kieburtz, Sneha Mantri, Werner Poewe, Michael Schwarzschild, John Seibyl, David Standaert, Duygu Tosun-Turgut, Sohini Chowdhury, Jamie Eberling, Mark Frasier, Leslie Kirsch, Katie Kopil, Maggie Kuhl, Alyssa O'Grady, Todd Sherer, Tawny Willson, Tanya Simuni, Bridget McMahon, Craig Stanley, Kim Fabrizio, Dixie Ecklund, Christine Kohnen, Tatiana Foroud, Laura Heathers, Christopher Hobbick, John Seibyl, Christopher Coffey, Chelsea Caspell-Garcia, Michael Brumm, Arthur Toga, Karen Crawford, Tatiana Foroud, Jan Hamer, Brit Mollenhauer, Doug Galasko, K
背景：血清神经丝轻链（NfL）水平是轴突损伤的标志物，通常在神经退行性疾病中升高，但在特发性帕金森病（iPD）中的结果并不一致。p.A53T SNCA突变通常导致严重的帕金森病。目的：本研究旨在评估血清NfL作为A53T-PD患者正在进行的神经退行性变标志物的潜在用途。方法：我们利用来自帕金森病进展标志物倡议的数据，采用基于倾向性评分匹配的技术，以3:1的比例将A53T-PD参与者与iPD患者和健康对照受试者（HCs）在年龄和病程（如适用）上进行匹配。结果：匹配后，分析了18名A53T-PD、54名iPD和54名HC受试者。与HCs（7.54 [5.76-10.1] pg/ml, P = 0.008）或iPD患者（8.59 [6.86-11.1] pg/ml, P = 0.077）相比，A53T-PD患者的血清NfL水平更高（9.82 [8.02-18.1] pg/ml）（总体P = 0.049）。结论：A53T-PD患者的NfL水平较高，这可能潜在地用作疾病修饰剂临床试验的结果指标。© 2026 The Author(s). Movement Disorders 由Wiley Periodicals LLC代表国际帕金森和运动障碍协会出版。
