Abdi Ilham Y, Hashish Sara A, El-Agnaf Omar A
Neurological Disorder Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Qatar Foundation, Doha, Qatar.
College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Qatar Foundation, Doha, Qatar.
J Parkinsons Dis. 2025 May;15(3):447-458. doi: 10.1177/1877718X251325124. Epub 2025 Mar 2.
The accurate diagnosis of synucleinopathies-neurodegenerative diseases marked by misfolded α-synuclein protein aggregates, such as Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy-remains a critical challenge. Conventional clinical criteria, frequently verified only through postmortem examination, results in diagnostic delays that impede timely intervention. Seeding amplification assay (SAA) has emerged as a promising diagnostic tool, offering high sensitivity for detecting α-synuclein aggregates even in early disease stages. While SAA enables early diagnosis by amplifying misfolded α-synuclein in biological samples, several barriers exist, including a lack of assay standardization, technical complexity, and difficulty differentiating among synucleinopathies. Additionally, the current SAA is primarily qualitative, limiting their ability to correlate with disease severity or progression. This review addresses these limitations by examining pre-analytical and analytical factors influencing SAA performance and exploring emerging quantitative approaches. Recent advancements include the integration of SAA with quantitative methodologies, which hold promise for enhanced diagnostic accuracy and clinical applicability. SAA's potential as a diagnostic and monitoring tool is significant and can be further improved by validation in longitudinal studies. The clinical implementation of SAA could revolutionize the early detection and management of synucleinopathies, ultimately improving patient outcomes through earlier diagnosis and tailored therapeutic strategies.
突触核蛋白病(以错误折叠的α-突触核蛋白蛋白聚集体为特征的神经退行性疾病,如帕金森病、路易体痴呆和多系统萎缩)的准确诊断仍然是一项严峻挑战。传统的临床标准通常仅通过尸检来验证,这导致诊断延迟,阻碍了及时干预。种子扩增分析(SAA)已成为一种有前景的诊断工具,即使在疾病早期阶段也能对检测α-突触核蛋白聚集体具有高灵敏度。虽然SAA通过扩增生物样本中错误折叠的α-突触核蛋白实现早期诊断,但仍存在一些障碍,包括缺乏检测标准化、技术复杂性以及难以区分不同的突触核蛋白病。此外,当前的SAA主要是定性的,限制了其与疾病严重程度或进展相关联的能力。本综述通过研究影响SAA性能的分析前和分析因素以及探索新兴的定量方法来解决这些局限性。最近的进展包括将SAA与定量方法相结合,这有望提高诊断准确性和临床适用性。SAA作为诊断和监测工具的潜力巨大,通过纵向研究验证可进一步提高。SAA的临床应用可能会彻底改变突触核蛋白病的早期检测和管理,最终通过早期诊断和量身定制的治疗策略改善患者预后。