Gaudino Simona, Gangemi Emma, Colantonio Raffaella, Botto Annibale, Ruberto Emanuela, Calandrelli Rosalinda, Martucci Matia, Vita Maria Gabriella, Masullo Carlo, Cerase Alfonso, Colosimo Cesare
Department of Radiological Sciences, Institute of Radiology, Fondazione Policlinico Universitario A. Gemelli, School of Medicine, Catholic University, Largo A. Gemelli, 8, 00168, Rome, Italy.
Institute of Neurology, Fondazione Policlinico Universitario A. Gemelli, School of Medicine, Catholic University, Largo A. Gemelli, 8, 00168, Rome, Italy.
Radiol Med. 2017 May;122(5):369-385. doi: 10.1007/s11547-017-0725-y. Epub 2017 Jan 21.
Human transmissible spongiform encephalopathies (TSEs), or prion diseases, are invariably fatal conditions associated with a range of clinical presentations. TSEs are classified as sporadic [e.g. sporadic Creutzfeldt-Jakob disease (sCJD), which is the most frequent form], genetic (e.g. Gerstmann-Straussler-Scheinker disease, fatal familial insomnia, and inherited CJD), and acquired or infectious (e.g. Kuru, iatrogenic CJD, and variant CJD). In the past, brain imaging played a supporting role in the diagnosis of TSEs, whereas nowadays magnetic resonance imaging (MRI) plays such a prominent role that MRI findings have been included in the diagnostic criteria for sCJD. Currently, MRI is required for all patients with a clinical suspicion of TSEs. Thus, MRI semeiotics of TSEs should become part of the cultural baggage of any radiologist. The purposes of this update on the neuroradiology of CJD are to (i) review the pathophysiology and clinical presentation of TSEs, (ii) describe both typical and atypical MRI findings of CJD, and (iii) illustrate diseases mimicking CJD, underlining the MRI key findings useful in the differential diagnosis.
人类可传播性海绵状脑病（TSEs），即朊病毒病，是一系列与多种临床表现相关的致命疾病。TSEs分为散发性（如散发性克雅氏病[sCJD]，这是最常见的形式）、遗传性（如格斯特曼-施特劳斯勒-谢inker病、致死性家族性失眠症和遗传性克雅氏病）以及获得性或传染性（如库鲁病、医源性克雅氏病和变异型克雅氏病）。过去，脑成像在TSEs的诊断中起辅助作用，而如今磁共振成像（MRI）发挥着如此突出的作用，以至于MRI表现已被纳入sCJD的诊断标准。目前，所有临床怀疑患有TSEs的患者都需要进行MRI检查。因此，TSEs的MRI影像学特征应成为所有放射科医生知识储备的一部分。本次关于克雅氏病神经放射学更新的目的在于：（i）回顾TSEs的病理生理学和临床表现；（ii）描述克雅氏病典型和非典型的MRI表现；（iii）举例说明类似克雅氏病的疾病，强调有助于鉴别诊断的MRI关键表现。
