Saleem Tayyaba, Fischer Anna-Lisa, Canaslan Sezgi, Correia Susana Da Silva, Hermann Peter, Schmitz Matthias, Correia Angela Da Silva, Zerr Inga
Department of Neurology, University Medical Center, Georg-August University, Goettingen, Germany.
Subcell Biochem. 2025;112:15-38. doi: 10.1007/978-3-031-97055-9_2.
Prion diseases are rapidly progressive and fatal neurodegenerative disorders caused by misfolded prion proteins. Accurate and early diagnosis is essential to distinguish these conditions from treatable dementias and to prevent iatrogenic transmission. While definitive confirmation still depends on postmortem neuropathological techniques such as immunohistochemistry and western blot, recent advances have significantly improved antemortem diagnostic capabilities. The antemortem diagnosis combines clinical evaluation, neuroimaging, electroencephalography, and cerebrospinal fluid biomarkers. The development of real-time quaking-induced conversion (RT-QuIC) has enhanced the detection of misfolded prion proteins with high specificity, complementing existing diagnostic methods. Although advancements in biomarkers and diagnostic methodologies have improved the early detection of prion diseases, challenges remain. Continued research is crucial for enhancing early identification, tracking disease progression, optimizing patient management, and further elucidating disease pathogenesis.
朊病毒病是由错误折叠的朊病毒蛋白引起的快速进展性致命神经退行性疾病。准确的早期诊断对于将这些疾病与可治疗的痴呆症区分开来以及预防医源性传播至关重要。虽然明确的确诊仍依赖于免疫组织化学和蛋白质印迹等尸检神经病理学技术，但最近的进展显著提高了生前诊断能力。生前诊断结合了临床评估、神经影像学、脑电图和脑脊液生物标志物。实时震颤诱导转化（RT-QuIC）的发展提高了对错误折叠朊病毒蛋白的检测特异性，补充了现有的诊断方法。尽管生物标志物和诊断方法的进步改善了朊病毒病的早期检测，但挑战依然存在。持续的研究对于加强早期识别、跟踪疾病进展、优化患者管理以及进一步阐明疾病发病机制至关重要。
