实时震动诱导蛋白扩增检测阳性的散发型克-雅病患者8例的临床特点分析  

Clinical features in 8 patients of sporadic Creutzfeldt-Jakob disease with positive real-time quaking-induced conversion

作　　者：刘媛媛 靳玮 臧卫周 李书剑 张杰文 Yuanyuan Liu;Wei Jin;Weizhou Zang;Shujian Li;Jiewen Zhang(Department of Neurology,Henan Provincial People′s Hospital,Zhengzhou University People′s Hospital,Zhengzhou 450003,China;Henan Provincial People′s Hospital,Zhengzhou University People′s Hospital,Henan Eye Hospital,Henan Eye Institute,Zhengzhou 450003,China)

机构地区：[1]河南省人民医院郑州大学人民医院神经内科,郑州450003 [2]河南省人民医院郑州大学人民医院河南省立眼科医院河南省眼科研究所,郑州450003

出　　处：《中华神经科杂志》2022年第11期1252-1260,共9页Chinese Journal of Neurology

摘　　要：目的报道8例散发型克-雅病(sCJD)患者的实时震动诱导蛋白扩增(RT-QuIC)检测结果及其临床特点。方法回顾性分析河南省人民医院2018年1月至2021年5月诊断为临床很可能的sCJD, 且送RT-QuIC检测的患者的住院病历。收集患者一般资料(性别、年龄、首发症状、主要临床表现)、辅助检查[头颅磁共振成像(MRI)、脑电图、脑脊液 14-3-3 蛋白、朊蛋白基因、皮肤组织RT-QuIC、自身免疫性脑炎和副肿瘤综合征相关抗体]检查结果, 并对患者进行电话随访, 记录其存活情况。根据脑电图、14-3-3蛋白、病程长短、MRI结果对患者进行分组, 比较组间RT-QuIC结果中荧光达峰时间和荧光峰值的差异。结果入组8例患者, 其中7例患者为亚急性起病, 1例慢性起病。主要的临床症状和体征有进行性认知下降(8/8)、锥体束征(5/8)、走路不稳(4/8)、精神行为异常(4/8)、肌阵挛(4/8)、无动性缄默(4/8)、头晕(3/8)、肢体抖动(2/8)、构音障碍(2/8)、视幻觉(1/8)、视力下降(1/8)。所有患者脑电图检查结果均异常, 其中 5 例可见典型的周期性尖慢复合波(PSWCs)。7例患者头颅MRI弥散加权成像示大脑皮质和(或)基底节的异常高信号, 其中6例累及双侧基底节。8例患者中2例脑脊液14-3-3蛋白阳性;全部患者RT-QuIC检测结果均为阳性;随访结果显示4例患者死亡。RT-QuIC荧光达峰时间在PSWCs阳性组[(7.617±2.164)h]及MRI总评分高组[(7.600±1.907)h]比PSWCs阴性组[(10.602±2.247)h, t=2.84, P=0.010]及MRI总评分低组[(9.760±2.457)h, t=2.26, P=0.032]更短。结论 RT-QuIC检测是早期诊断sCJD的可靠方法。RT-QuIC结果与脑电图出现PSWCs和MRI受累程度可能有关。Objective To report 8 patients of sporadic Creutzfeldt-Jakob disease(sCJD)with real-time quaking-induced conversion(RT-QuIC)positive and analyze their clinical characteristics.Methods The medical records of patients discharged from Henan Provincial People′s Hospital from January 2018 to May 2021 who were diagnosed with clinically probable sCJD and had RT-QuIC test were retrospectively analyzed.General information(gender,age,initial symptom,main clinical manifestations),accessory examination[brain magnetic resonance imaging(MRI),electroencephalogram,cerebrospinal fluid 14-3-3 protein,prion protein gene,antibodies related to autoimmune encephalitis and paraneoplastic syndrome]were collected.By a telephone-based follow-up survey,data about morality and total duration of course were collected.The patients were divided into two groups according to electroencephalogram,14-3-3 protein,duration of disease and MRI results,and the differences of fluorescence peak time and fluorescence peak value in RT-QuIC results between groups were compared.Results Among 8 patients,7 patients had subacute onset and 1 patient had chronic onset.Main clinical manifestations included progressive cognitive decline(8/8),pyramid sign(5/8),walking instability(4/8),mental and behavior disorder(4/8),myoclonus(4/8),akinetic mutism(4/8),dizziness(3/8),limb shaking(2/8),dysarthria(2/8),visual hallucination(1/8),impaired vision(1/8).All cases had abnormal electroencephalogram and typical periodic sharp slow compound waves(PSWCs)were observed in 5 cases.Brain MRI showed high signal intensity in the cerebral cortex and/or basal ganglia on diffusion-weighted imaging in 7 cases,of which 6 cases involved bilateral basal ganglia.Cerebrospinal fluid 14-3-3 protein was positive in 2 cases,and RT-QuIC was positive in all cases.The fluorescence peak time of RT-QuIC was shorter in patients with PSWCs[(7.617±2.164)h vs(10.602±2.247)h,t=2.84,P=0.010]and high total MRI score[(7.600±1.907)h vs(9.760±2.457)h,t=2.26,P=0.032].Conclusions RT-QuIC detection is a re

关 键 词：克-亚综合征 脑电描记术 磁共振成像 实时震动诱导蛋白扩增 周期性尖慢复合波 

分 类 号：R741[医药卫生—神经病学与精神病学]