Giannakis Alexandros, Pechlivani Louisa, Sioka Chrissa, Alexiou George, Konitsiotis Spiridon, Kyritsis Athanassios P
Department of Neurology, Faculty of Medicine, School of Health Sciences, University of Ioannina, University Campus, 45500 Ioannina, Greece.
Neurosurgical Institute, University of Ioannina, 45500 Ioannina, Greece.
Int J Mol Sci. 2025 Aug 13;26(16):7817. doi: 10.3390/ijms26167817.
Seed amplification assays (SAA) targeting misfolded α-synuclein have emerged as powerful tools for the diagnosis and study of synucleinopathies, including Parkinson's disease (PD), dementia with Lewy bodies, and multipßle system atrophy. These assays exploit the prion-like seeding properties of pathological α-synuclein to detect minute amounts of misfolded protein in biological specimens. the PubMed database was searched according to our study criteria, and 55 clinical studies comprised the final literature review. the majority of studies have focused on patients at various stages of PD, with cerebrospinal fluid (CSF) being the most commonly investigated biological specimen. Diagnostic utility was most pronounced in the CSF of PD patients, whereas results from other biological samples and across different synucleinopathies have been more modest. α-syn SAA demonstrate significant diagnostic potential in synucleinopathies. Additional applications may include monitoring disease progression. Future studies should explore the utility of α-syn SAA in alternative biological specimens, assess its performance across various synucleinopathies and other neurodegenerative diseases, and determine its comparative diagnostic value.
针对错误折叠的α-突触核蛋白的种子扩增分析(SAA)已成为诊断和研究突触核蛋白病(包括帕金森病(PD)、路易体痴呆和多系统萎缩)的有力工具。这些分析利用病理性α-突触核蛋白的朊病毒样种子特性来检测生物样本中微量的错误折叠蛋白。根据我们的研究标准检索了PubMed数据库,55项临床研究构成了最终的文献综述。大多数研究集中于PD不同阶段的患者,脑脊液(CSF)是最常研究的生物样本。诊断效用在PD患者的CSF中最为显著,而来自其他生物样本以及不同突触核蛋白病的结果则较为一般。α-突触核蛋白SAA在突触核蛋白病中显示出显著的诊断潜力。其他应用可能包括监测疾病进展。未来研究应探索α-突触核蛋白SAA在其他生物样本中的效用,评估其在各种突触核蛋白病和其他神经退行性疾病中的表现,并确定其比较诊断价值。