An overview of human prion diseases.
An overview of human prion diseases.
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DOI：
10.1186/1743-422x-8-559
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发表时间：
2011-12-24
期刊：
影响因子：
4.8
通讯作者：
Mahmood S
中科院分区：
文献类型：
--
作者：
Imran M;Mahmood S
朊病毒病是一种可传播的、进行性的、总是致命的神经退行性疾病，与宿主编码的细胞朊病毒蛋白PrPC的错误折叠和聚集有关。它们发生在包括人类在内的多种哺乳动物物种中。人类朊病毒疾病可以是偶发性的，也可以是遗传性的或后天获得的。散发的人类朊病毒病包括克-雅二氏病（CJD）、致命性失眠症和朊蛋白酶敏感性朊病毒病。遗传性或家族性朊病毒疾病是由编码PrPC的基因中的常染色体显性遗传突变引起的，包括家族性或遗传性CJD、致死性家族性失眠症和Gerstmann-Sträussler-Scheinker综合征。获得性人类朊病毒病仅占人类朊病毒病病例的5%。它们包括库鲁病、医源性克雅氏病和一种新的克雅氏病变种，这种变种是通过食用肉类（尤其是大脑）从受影响的牛传播给人类的。本文综述了人类朊病毒病的流行病学、病因学、临床评估、神经病理学和公共卫生问题。PrP编码基因（PRNP）在赋予人类朊病毒疾病的易感性的作用进行了讨论。
Prion diseases are transmissible, progressive and invariably fatal neurodegenerative conditions associated with misfolding and aggregation of a host-encoded cellular prion protein, PrPC. They have occurred in a wide range of mammalian species including human. Human prion diseases can arise sporadically, be hereditary or be acquired. Sporadic human prion diseases include Cruetzfeldt-Jacob disease (CJD), fatal insomnia and variably protease-sensitive prionopathy. Genetic or familial prion diseases are caused by autosomal dominantly inherited mutations in the gene encoding for PrPC and include familial or genetic CJD, fatal familial insomnia and Gerstmann-Sträussler-Scheinker syndrome. Acquired human prion diseases account for only 5% of cases of human prion disease. They include kuru, iatrogenic CJD and a new variant form of CJD that was transmitted to humans from affected cattle via meat consumption especially brain. This review presents information on the epidemiology, etiology, clinical assessment, neuropathology and public health concerns of human prion diseases. The role of the PrP encoding gene (PRNP) in conferring susceptibility to human prion diseases is also discussed.