文摘
摘要目的:确定临床症状的频率,信号,并支持在初步评估结果克雅氏病(CJD),及其与疾病的关系持续时间。
背景:神经和精神症状的宽光谱库贾氏症患者混淆诊断。库贾氏症诊断标准强调检测特定症状/体征,和测试结果,然而目前尚不清楚当在发病的这些特性出现。
设计/方法:医疗记录的临床数据提取可能的或明确的库贾氏症患者从2014 - 2021年在梅奥诊所。建立了临床诊断的共识没有神经病理证实为例。单变量和多变量统计数据被用来评估主要表示和人口之间的关系,临床表现,实验室结果,脑电图(EEG)发现,神经影像发现,神经病理学。
结果:系列包括115例:43(37.4%)明确和72年(62.6%)可能的库贾氏症。出现症状的平均年龄为64.8岁(9.4±SD), 68名患者是女性(59.1%)。最常见的主要表现是认知(49[42.6%]),其次是全球(28(24.3%),涉及多个神经域)、小脑(22[19.1%])和电机(12[10.43%])演示。精神演讲很少见(4 [3.5%])。肌阵挛是出现在27%,与临床表型(χ有关2(N = 115) = 18.657, p = 0.001)。肌阵挛检测与平均减少186天存活率(95% CI[336])控制了年龄。在初步评估包括MRI诊断测试支持库贾氏症(diffusion-weighted成像在基底神经节,丘脑,或皮层),76.5% (88/115);脑电图(定期排放/承认),16.2% (17/105);CSF (t-tau > 1149 pg / mL), 87.5%(63/72),“积极的”14-3-3,60.0%(54/90),和“积极的”RT-QuIC, 91.7% (66/72)。CSF t-tau总水平与time-to-death(皮尔森的ρ=−0.295,p = 0.006)。
结论:症状/体征,研究结果支持在初步评估测试库贾氏症患者不同。多个测试的结果应该考虑建立一个库贾氏症的诊断。
披露:烤博士没有披露。伊芙琳Lazar没有披露。Graff-Radford博士已经收到个人赔偿作为梅奥诊所的一名雇员。Graff-Radford博士已经收到个人薪酬在5000 - 9999美元的范围作为一个编辑,副主编,或为美国神经病学学会编辑顾问委员会成员。首页Graff-Radford博士的机构收到NIH的研究支持。Aksamit博士没有披露。Cutsforth-Gregory博士已经收到相关出版物的出版版税卫生保健。琼斯博士没有披露。博塔博士没有披露。Ramanan博士没有披露。 Dr. Prusinski has nothing to disclose. Dr. Porter has nothing to disclose. Dr. Day has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Parabon Nanolabs. 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. 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. Dr. Day has received personal compensation in the range of $500-$4,999 for serving as a Presenter at regional meeting (CME) with Texas Neurological Society. Dr. Day has received personal compensation in the range of $500-$4,999 for serving as a Grant Review (honorarium) with Pennsylvania Department of Health . 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.
