Third Department of Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Department of Neuroscience, Leeds Teaching Hospitals, NHS Trust, Leeds, UK.
Acta Neurol Belg. 2021 Apr;121(2):341-349. doi: 10.1007/s13760-021-01596-3. Epub 2021 Jan 24.
Creutzfeld-Jakob disease (CJD) is a fatal neurodegenerative disease which belongs to the family of transmissible spongiform encephalopathies (TSEs), or prion diseases. Historically, CJD diagnosis has been based on the combination of clinical features and in vivo markers, including CSF protein assays, MRI and EEG changes. Brain-derived CSF proteins, such as 14-3-3, t-tau and p-tau have been largely used to support the diagnosis of probable CJD, although with certain limitations concerning sensitivity and specificity of these tests. More recently, a new method for the pre-mortem diagnosis of sporadic CJD has been developed, based on the ability of PrPsc to induce the polymerization of protease-sensitive recombinant PrP (PrPsen) into amyloid fibrils, and is known as Real-Time Quaking- Induced Conversion (RT-QuIC) assay allows the detection of > 1 fg of PrPsc in diluted CJD brain homogenate and a variety of biological tissues and fluids. In the present study, we did a meta-analysis on the liability of RT-QuIC method in the diagnosis of sporadic CJD, in comparison to 14-3-3 and Tau protein. Twelve studies were finally included in the statistical analysis which showed that RT-QuIC has a very high specificity and comparable sensitivity to 14-3-3 protein and Tau protein in the CSF, and hence can be used as a reliable biomarker for the diagnosis of sporadic CJD.
克雅氏病（CJD）是一种致命的神经退行性疾病，属于传染性海绵状脑病（TSEs）或朊病毒病家族。历史上，CJD 的诊断基于临床特征和体内标志物的结合，包括 CSF 蛋白分析、MRI 和 EEG 变化。脑源性 CSF 蛋白，如 14-3-3、t-tau 和 p-tau，已被广泛用于支持可能的 CJD 诊断，尽管这些测试的敏感性和特异性存在一定的局限性。最近，基于 PrPsc 诱导蛋白酶敏感重组 PrP（PrPsen）聚合形成淀粉样纤维的能力，开发了一种用于散发性 CJD 生前诊断的新方法，称为实时震动诱导转化（RT-QuIC）检测法可以检测到稀释后的 CJD 脑匀浆和各种生物组织和液体中超过 1 fg 的 PrPsc。在本研究中，我们对 RT-QuIC 方法在散发性 CJD 诊断中的可靠性进行了荟萃分析，与 14-3-3 和 Tau 蛋白进行了比较。最终有 12 项研究纳入了统计分析，结果表明，与 14-3-3 蛋白和 Tau 蛋白相比，RT-QuIC 在 CSF 中的特异性非常高，灵敏度相当，因此可作为散发性 CJD 的可靠生物标志物。
