Divya K P, Menon Ramshekhar N, Thomas Bejoy, Nair Muralidharan
Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
Neurol India. 2016 May-Jun;64(3):411-8. doi: 10.4103/0028-3886.181538.
This study addresses the role of neuroimaging in addition to the available clinical criteria for Creutzfeldt-Jakob disease (CJD) and its impact on its diagnosis in the absence of cerebrospinal fluid (CSF) biomarkers and tissue-based approaches.
From a tertiary referral center in the city of Trivandrum, Kerala, South India, patients with rapidly progressive dementia (RPD) who fulfilled the World Health Organization (WHO) 1998 diagnostic criteria for CJD were included in this study. Their electrophysiological-clinical-radiological data were retrospectively studied and the results were analyzed. The other biomarkers of CJD were not assessed in the study.
Of the 96 patients with RPD, 41 patients were diagnosed as having a 'probable' and 'possible' CJD using the WHO 1998 diagnostic criteria between 2000 and 2013. While 92% patients satisfied the University of California, San Francisco (UCSF) 2007 and European magnetic resonance imaging (MRI)-CJD consortium criteria (2009), only 73% satisfied the MRI components of these criteria in addition to the more stringent, proposed UCSF MRI criteria (2011). The latter required the presence of diffusion weighted imaging abnormalities more than fluid attenuation inversion recovery abnormalities in the cortical and subcortical regions for the establishment of diagnosis on MRI of 'definite' (53.7%) and 'probable' CJD (19.5%).
Significant heterogeneity exists in the presentation of CJD with only 48.8% patients simultaneously satisfying the MRI and electrophysiological criteria, suggesting that the diagnosis is impacted by these components in any of the currently prevalent criteria. With 27% of the cohort not meeting the radiological criteria, CSF and molecular biomarker assays may be reserved for MRI negative patients with suspected CJD and in atypical presentations.
本研究探讨神经影像学在克雅氏病（CJD）现有临床诊断标准之外的作用，以及在缺乏脑脊液（CSF）生物标志物和基于组织的检测方法时，其对CJD诊断的影响。
本研究纳入了来自印度南部喀拉拉邦特里凡得琅市一家三级转诊中心的快速进展性痴呆（RPD）患者，这些患者符合世界卫生组织（WHO）1998年CJD诊断标准。对他们的电生理-临床-放射学数据进行回顾性研究并分析结果。本研究未评估CJD的其他生物标志物。
在96例RPD患者中，2000年至2013年间，根据WHO 1998年诊断标准，41例患者被诊断为“可能”和“疑似”CJD。虽然92%的患者符合加利福尼亚大学旧金山分校（UCSF）2007年和欧洲磁共振成像（MRI）-CJD联盟标准（2009年），但只有73%的患者除了更严格的UCSF MRI标准（2011年）外，还符合这些标准的MRI部分。后者要求在皮质和皮质下区域，扩散加权成像异常多于液体衰减反转恢复异常，以便在MRI上诊断为“确诊”（53.7%）和“可能”CJD（19.5%）。
CJD的临床表现存在显著异质性，只有48.8%的患者同时符合MRI和电生理标准，这表明在任何当前流行的标准中，这些组成部分都会影响诊断。由于27%的队列不符合放射学标准，CSF和分子生物标志物检测可能适用于MRI阴性的疑似CJD患者和非典型表现患者。
