Department of Prion Diseases, Slovak Medical University, Limbova 14, 833 01, Bratislava, Slovakia.
Mol Neurobiol. 2017 Oct;54(8):5919-5927. doi: 10.1007/s12035-016-0128-4. Epub 2016 Sep 24.
Creutzfeldt-Jakob disease is a rare, but rapidly progressive, up to now untreatable and fatal neurodegenerative disorder. Clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is difficult; however, it can be facilitated by suitable biomarkers. Aim of the present study is to compare levels of cerebrospinal fluid biomarkers (total tau protein, phosphorylated-tau protein, protein 14-3-3 and amyloid beta) in Slovak population of CJD suspect cases, retrospectively in over a 10-year period. One thousand three hundred sixty-four CSF samples from patients with suspect CJD, forming a homogenous group in terms of geographical as well as of equal transport conditions, storage and laboratory processing, were analysed. Definite diagnosis of Creutzfeldt-Jakob disease was confirmed in 101 patients with genetic form, and 60 patients with its sporadic form of the disease. Specificity of protein 14-3-3 and total tau in both forms CJD was similar (87 % for P14-3-3/85 % for total tau), sensitivity to P 14-3-3 and total tau was higher in sporadic Creutzfeldt-Jakob disease (sCJD) (90/95 %) than in genetic Creutzfeldt-Jakob disease (gCJD) (89/74 %). As expected, the total tau levels were significantly higher in CJD patients than in controls, but there was also significant difference between gCJD and sCJD (levels in gCJD were lower; p = 0.003). There was no significant difference in p-tau and Aβ 1-42 levels neither between both CJD forms nor between CJD patients and control group.
克雅氏病是一种罕见的、快速进展的、目前无法治疗且致命的神经退行性疾病。克雅氏病（CJD）的临床诊断较为困难；然而，适当的生物标志物可以辅助诊断。本研究的目的是比较在过去 10 多年时间里，疑似克雅氏病的斯洛伐克人群中脑脊液生物标志物（总tau 蛋白、磷酸化tau 蛋白、蛋白 14-3-3 和淀粉样β）的水平。分析了来自疑似克雅氏病患者的 1364 份 CSF 样本，这些患者在地理和运输条件、储存和实验室处理方面均同质。通过基因形式确诊 101 例克雅氏病，通过散发性形式确诊 60 例。在两种形式的 CJD 中，蛋白 14-3-3 和总 tau 的特异性相似（P14-3-3 为 87%，总 tau 为 85%），在散发性克雅氏病（sCJD）中，P14-3-3 和总 tau 的敏感性更高（90%/95%），而在遗传性克雅氏病（gCJD）中敏感性较低（89%/74%）。如预期的那样，CJD 患者的总 tau 水平明显高于对照组，但 gCJD 和 sCJD 之间也存在显著差异（gCJD 水平较低；p=0.003）。在两种 CJD 形式之间，以及在 CJD 患者与对照组之间，p-tau 和 Aβ 1-42 水平均无显著差异。
