Vieira Tuane Cristine R G, Barbosa Breno José Alencar Pires
Medical Biochemistry Institute Leopoldo de Meis, National Institute of Science, Technology, Structural Biology and Bioimaging, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Academic Area of Neuropsychiatry, Medical Sciences Center, Federal University of Pernambuco, Recife, Brazil.
Methods Mol Biol. 2025;2914:15-24. doi: 10.1007/978-1-0716-4462-1_2.
Prion diseases, a group of fatal neurodegenerative disorders, present significant diagnostic challenges due to their subtle clinical manifestations, which often mimic those of other treatable neurological conditions. This diagnostic ambiguity underscores the necessity for reliable and specific diagnostic tools. Real-Time Quaking-Induced Conversion (RT-QuIC) has emerged as a groundbreaking technique for diagnosing these diseases using cerebrospinal fluid (CSF) samples. This chapter outlines a comprehensive and standardized protocol for employing RT-QuIC to detect the pathological form of the prion protein in CSF, offering a powerful tool for clinical diagnosis. It provides step-by-step instructions for patient examinations, laboratory RT-QuIC analysis, and data interpretation. By adhering to these protocols, researchers and clinicians can achieve high sensitivity and specificity in diagnosing prion diseases, facilitating timely and accurate patient management.
朊病毒病是一组致命的神经退行性疾病,由于其临床表现细微,常常与其他可治疗的神经系统疾病相似,因此在诊断上面临重大挑战。这种诊断上的模糊性凸显了可靠且特异的诊断工具的必要性。实时震颤诱导转化(RT-QuIC)已成为一种开创性技术,可用于使用脑脊液(CSF)样本诊断这些疾病。本章概述了一项全面且标准化的方案,用于采用RT-QuIC检测脑脊液中朊病毒蛋白的病理形式,为临床诊断提供了一个强大的工具。它提供了患者检查、实验室RT-QuIC分析和数据解读的分步说明。通过遵循这些方案,研究人员和临床医生在诊断朊病毒病时可实现高灵敏度和特异性,有助于及时、准确地管理患者。