Evaluation of a New Criterion for Detecting Prion Disease With Diffusion Magnetic Resonance Imaging
Evaluation of a New Criterion for Detecting Prion Disease With Diffusion Magnetic Resonance Imaging
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DOI：
10.1001/jamaneurol.2020.1319
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发表时间：
2020-09-01
期刊：
影响因子：
29
通讯作者：
Gambetti, Pierluigi
中科院分区：
文献类型：
--
作者：
Bizzi, Alberto;Pascuzzo, Riccardo;Gambetti, Pierluigi
重要性早期诊断是朊病毒疾病未来治疗的必要条件。磁共振成像（MRI）与扩散加权图像和改进的实时震动诱导转换（RT-QuIC）在脑脊液（CSF）已成为可靠的测试。目的评价弥散MRI诊断散发性Creutzfeldt-Jakob病（sCJD）的敏感性和特异性。设计、设置和参与者本诊断性研究包括前瞻性和回顾性研究，于2003年1月1日至2018年10月31日进行。磁共振成像收集了1387例疑似sCJD连续转介到国家朊病毒疾病病理监测中心的咨询服务的一部分。介入磁共振成像。四名对诊断不知情的神经放射科医生对随机选择的200名患者的MRI进行了评分。一名神经放射科医生对所有患者的MRI进行评分。主要结局和指标指标与目前使用的标准和CSF诊断（改进的RT-QuIC、14-3-3和tau CSF试验）相比，指数试验的灵敏度和特异性。结果共872例符合纳入标准（弥散MRI和尸检证实的诊断），其中619例为sCJD，102例为其他朊病毒疾病，151例为非朊病毒疾病。主要分析包括200例患者（平均[SD]年龄，63.6 [12.9]岁; 100例[50.0%]男性）。4名神经放射科医师的指数测试的敏感性为90%至95%，上级于当前MRI标准的敏感性（69%-76%），而特异性为90%至100%，无变化。4名神经放射科医师的评价者间信度较高（kappa = 0.81），个体间信度极好（kappa >= 0.87）。1名神经放射科医师对770例患者进行的指数测试的敏感性为92.1%（95%CI，89.7%~ 94.1%），特异性为97.4%（95% CI，93.4%-99.3%），而敏感性为69.8%（95%CI，66.0%-73.4%; P <0.001），特异性为98.0%（95%CI，94.3%-99.6%; P > 0.99）。对于88例患者，指标检测灵敏度（94.9%; 95%CI，87.5%-98.6%）和特异性（100%; 95%CI，66.4%-100%）与改良RT-QuIC相似（分别为86.1% [95%CI，76.5%-92.8%]和100% [95%CI，66.4%-100%]）。在452例患者中发现14-3-3和tau CSF检测的特异性较低。结论与相关性在本研究中，新标准的弥散MRI诊断性能上级现行标准，与改进的RT-QuIC相似。这些结果可能具有重要的临床意义，因为MRI是无创性的，通常在疾病的presentation.This诊断研究评估的敏感性和特异性扩散磁共振成像与一个新的标准，至少有一个阳性脑区诊断散发性Creutzfeldt-Jakob病.问题是扩散磁共振成像（MRI）使用至少1个阳性脑区的新标准诊断散发性克雅氏病（sCJD）比目前使用的标准和3种常用的脑脊液检查更准确？结果在这项诊断性研究中，1387例疑似sCJD患者，新的标准增加了MRI的灵敏度尸检证实的sCJD相比，目前应用的标准。弥散MRI的诊断性能与改进版的脑脊液中的实时振动诱导转换试验相当。研究结果表明，弥散MRI是一种准确的测试，建立在适当的临床背景下朊病毒疾病的诊断。
Importance Early diagnosis is a requirement for future treatment of prion diseases. Magnetic resonance imaging (MRI) with diffusion-weighted images and improved real-time quaking-induced conversion (RT-QuIC) in cerebrospinal fluid (CSF) have emerged as reliable tests. Objectives To assess the sensitivity and specificity of diffusion MRI for the diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) with a new criterion (index test) of at least 1 positive brain region among the cortex of the frontal, parietal, temporal, and occipital lobes; the caudate; the putamen; and the thalamus. Design, Setting, and Participants This diagnostic study with a prospective and a retrospective arm was performed from January 1, 2003, to October 31, 2018. MRIs were collected from 1387 patients with suspected sCJD consecutively referred to the National Prion Disease Pathology Surveillance Center as part of a consultation service. Intervention Magnetic resonance imaging. Four neuroradiologists blinded to the diagnosis scored the MRIs of 200 randomly selected patients. One neuroradiologist scored the MRIs of all patients. Main Outcomes and Measures Sensitivity and specificity of the index test compared with currently used criteria and CSF diagnostic (improved RT-QuIC, 14-3-3, and tau CSF tests). Results A total of 872 patients matched the inclusion criteria (diffusion MRI and autopsy-confirmed diagnosis), with 619 having sCJD, 102 having other prion diseases, and 151 having nonprion disease. The primary analysis included 200 patients (mean [SD] age, 63.6 [12.9] years; 100 [50.0%] male). Sensitivity of the index test of 4 neuroradiologists was 90% to 95% and superior to sensitivity of current MRI criteria (69%-76%), whereas specificity was 90% to 100% and unchanged. Interrater reliability of the 4 neuroradiologists was high (kappa = 0.81), and individual intrarater reliability was excellent (kappa >= 0.87). The sensitivity of the index test of 1 neuroradiologist for 770 patients was 92.1% (95% CI, 89.7%-94.1%) and the specificity was 97.4% (95% CI, 93.4%-99.3%) compared with a sensitivity of 69.8% (95% CI, 66.0%-73.4%; P < .001) and a specificity of 98.0% (95% CI, 94.3%-99.6%; P > .99) according to the current criteria. For 88 patients, index test sensitivity (94.9%; 95% CI, 87.5%-98.6%) and specificity (100%; 95% CI, 66.4%-100%) were similar to those of improved RT-QuIC (86.1% [95% CI, 76.5%-92.8%] and 100% [95% CI, 66.4%-100%], respectively). Lower specificities were found for 14-3-3 and tau CSF tests in 452 patients. Conclusions and Relevance In this study, the diagnostic performance of diffusion MRI with the new criterion was superior to that of current standard criteria and similar to that of improved RT-QuIC. These results may have important clinical implications because MRI is noninvasive and typically prescribed at disease presentation.This diagnostic study assesses the sensitivity and specificity of diffusion magnetic resonance imaging with a new criterion of at least 1 positive brain region for the diagnosis of sporadic Creutzfeldt-Jakob disease.Question Is diffusion magnetic resonance imaging (MRI) using a new criterion of at least 1 positive brain region for diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) more accurate than currently used criteria and 3 commonly used cerebrospinal fluid tests? Findings In this diagnostic study of 1387 patients with suspected sCJD, the new criterion increased the sensitivity of MRI for autopsy-confirmed sCJD compared with current applied criteria. The diagnostic performance of diffusion MRI was comparable with the improved version of the real-time quaking-induced conversion test in cerebrospinal fluid. Meaning The findings suggest that diffusion MRI is an accurate test for establishing a diagnosis of prion diseases in the appropriate clinical context.