文摘
摘要目的:识别的临床、实验室和病理特征与假阴性实时quaking-induced转换(RT-QuIC)朊病毒的测试。
背景:异质性在临床表现、丰富的模仿,和潜在的医源性传播强调需要准确诊断测试克雅氏病(CJD)。虽然RT-QuIC是一个很好的测试,假阴性结果是公认的在临床实践中。
设计/方法:一百年12个可能的或明确的朊病毒疾病患者评估两个三级保健中心从2013 - 2021。RT-QuIC测试执行朊病毒在所有患者脑脊液(CSF)通过国家朊病毒疾病病理学监测中心(克利夫兰,哦)。人口数据、临床特征和常见的测试的结果和实验室研究抽象从电子医疗记录和差异RT-QuIC正面和负面的病人考虑使用单变量统计。
结果:最初的RT-QuIC测试-在12/112的病人(敏感性89%)。平均年龄在RT-QuIC负表示年轻患者(56.9 vs 66年,p < 0.01),也不太可能出现共济失调(3/12和61/100,p = 0.03)。CSF细胞计数、蛋白质和葡萄糖水平组之间的相似,尽管14-3-3积极性的发生率(2/12和77/100,p < 0.01),并且RT-QuICτCSF中位数水平低负病人(2318 vs 4001 pg / mL, p < 0.01)。RT-QuIC阴性患者出现症状也有更长的平均日首先陈述(125 vs 47, p = 0.04),和更长的疾病症状持续时间(530 vs 148, p < 0.01)。两个RT-QuIC-negative患者进行重复测试,其中两人都是积极的。
结论:RT-QuIC是一个敏感而不完美的测量需要整合其他测试结果当朊病毒病疑似病例。负RT-QuIC患者脑脊液神经元损伤的生物标记物较低(total-tau和14-3-3)和长朊病毒疾病的症状持续时间提高假阴性的可能性RT-QuIC测试发病可能与更懒惰。
披露:琼斯博士没有披露。Lazar博士没有披露。波特博士没有披露。Prusinski博士没有披露。荆棘博士已经收到个人薪酬在5000 - 9999美元的范围为基因泰克公司担任顾问。荆棘博士的机构收到NIH的研究支持。Bucelli博士已经收到生原体的个人作为一个雇员补偿。Bucelli博士已经收到生原体的个人作为一个雇员补偿。Bucelli博士已经收到Neuroquestions的个人作为一个雇员补偿。Bucelli博士已经收到个人薪酬在5000 - 9999美元的范围作为顾问生原体。 Dr. Bucelli has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Bucelli has stock in Neuroquestions.com. An immediate family member of Dr. Bucelli has stock in Neuroquestions.com. The institution of Dr. Bucelli has received research support from Biogen. The institution of Dr. Bucelli has received research support from Ionis. Dr. Day has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Parabon Nanolabs. The institution of Dr. Day has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Eli Lilly. Dr. Day has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for DynaMed (EBSCO Health). Dr. Day has received personal compensation in the range of $10,000-$49,999 for serving as an Expert Witness for Barrow Law. Dr. Day has stock in ANI Pharmaceuticals. The institution of Dr. Day has received research support from National Institutes of Health / NIA. The institution of Dr. Day has received research support from Chan Zuckerberg Initiative. The institution of Dr. Day has received research support from Alzheimer’s Association. The institution of Dr. Day has received research support from National Institutes of Health / NINDS. The institution of Dr. Day has received research support from Horizon Therapeutics. Dr. Day has received personal compensation in the range of $500-$4,999 for serving as a Presenter at Annual Meeting (CME) with American Academy of Neurology. Dr. Day has received personal compensation in the range of $500-$4,999 for serving as a Content Development (CME) with PeerView, Inc. Dr. Day has received personal compensation in the range of $5,000-$9,999 for serving as a Content Development (CME) with Continuing Education, Inc. Dr. Day has a non-compensated relationship as a Clinical Director with AntiNMDA Receptor Encephalitis Foundation that is relevant to AAN interests or activities.
