Brandel Jean-Philippe, Knight Richard
Cellule nationale de référence des MCJ, Hôpital de la Salpêtrière, Paris, France.
National CJD Research and Surveillance Unit, Centre for Clinical Brain Sciences, University of Edinburgh, United Kingdom.
Handb Clin Neurol. 2018;153:191-205. doi: 10.1016/B978-0-444-63945-5.00011-8.
Variant CJD (vCJD) was described first in the United Kingdom in 1996. It is a zoonotic form of human prion disease, originating from dietary contamination of human food with material from bovine spongiform encephalopathy (BSE)-affected cattle. It has important epidemiologic, clinical, and neuropathogic differences from other forms of human prion disease. Cases have occurred in several countries but the United Kingdom and France have been most affected. Following the decline in BSE in cattle and the dietary protective measures adopted, vCJD has become an extremely rare disease. However, important concerns remain about asymptomatic infection in human populations (especially the United Kingdom) and the possibility of human-to-human transmission via medical and surgical interventions. Definitive diagnosis depends on neuropathology, usually undertaken at autopsy, but sometimes on brain biopsy. Clinical diagnosis with a reasonable degree of likelihood is, however, possible based on the clinical features and the finding of the pulvinar sign on cerebral magnetic resonance. There are also emerging tests (including blood tests) that have promising sensitivity and specificity for vCJD. It is a progressive illness, inevitably fatal with no curative treatment.
变异型克雅氏病(vCJD)于1996年首次在英国被发现。它是一种人朊病毒病的人畜共患病形式,源于受牛海绵状脑病(BSE)影响的牛的物质对人类食物的饮食污染。它在流行病学、临床和神经病理学方面与其他形式的人朊病毒病存在重要差异。多个国家都出现过病例,但英国和法国受影响最为严重。随着牛群中BSE的减少以及采取的饮食保护措施,vCJD已成为一种极为罕见的疾病。然而,对于人群(尤其是英国)中的无症状感染以及通过医疗和外科干预实现人际传播的可能性,仍存在重大担忧。确诊依赖于神经病理学检查,通常在尸检时进行,但有时也通过脑活检。不过,基于临床特征和脑部磁共振成像上丘脑枕征的发现,进行具有合理可能性的临床诊断也是可行的。此外,也有一些新兴检测方法(包括血液检测)对vCJD具有有前景的敏感性和特异性。这是一种进行性疾病,不可避免地会导致死亡,且无治愈性治疗方法。