Dormont D
Centre de Recherches du Service de Santé des Armées, Commissariat á l'Energie Atomique, DSV/DPTE, Fontenay-aux-Roses.
Bull Acad Natl Med. 1994 May;178(5):887-903; discussion 904-5.
Human transmissible spongiform encephalopathies (TSE) are rare chronic subacute degenerative diseases of the central nervous system (CNS) which include Creutzfeldt-Jakob disease (CJD), Kuru, Gerstmann-Sträussler-Scheinker syndrome (GSS), and Fatal Familial Insomnia (FFI). CJD can be either inherited or sporadic. All these diseases are always fatal. Neuropathological features are mainly constituted of neuronal vacuolisation, neuronal death, gliosis with hyperastrocytosis; plaques might be evidenced in kuru and GSS. Neither inflammatory syndrome nor demyelination is detectable. No virus like structure could be identified reproducibly. Human TSE are transmissible to non human primates and rodents. Iatrogenic CJD have been described after tissue grafting (cornea, dura mater), neurosurgery, electrophysiology investigation, and treatment with pituitary derived gonadotrophins and growth hormone. Molecular biochemistry of the CNS investigation revealed that a host encoded protein, the prion protein (PrP), accumulates proportionally to the infectious titer: this abnormality is the only detectable hallmark in TSE. Infectious fractions contain no detectable specific nucleic acid, and are mainly constituted of PrP under an isoform which resists to proteinase K digestion (PrP-res). The PrP gene (PRNP) is located on chromosome 20 in humans. Several mutations of this gene have been described in all inherited TSE (CJD, GSS, and IFF). No treatment is available today. Agents inducing TSE (TSA) are not known: several authors claim that TSA are only constituted of PrP-res; others support the hypothesis of a conventional agent with a specific genetic information.
人类可传播性海绵状脑病（TSE）是中枢神经系统（CNS）罕见的慢性亚急性退行性疾病，包括克雅氏病（CJD）、库鲁病、格斯特曼-施特劳斯勒-谢inker综合征（GSS）和致死性家族性失眠症（FFI）。CJD可遗传或散发。所有这些疾病均为致命性疾病。神经病理学特征主要包括神经元空泡化、神经元死亡、伴有星形细胞增多的胶质增生；在库鲁病和GSS中可能会出现斑块。未检测到炎症综合征或脱髓鞘现象。无法重复鉴定出类似病毒的结构。人类TSE可传播给非人灵长类动物和啮齿动物。组织移植（角膜、硬脑膜）、神经外科手术、电生理检查以及使用垂体来源的促性腺激素和生长激素治疗后，已出现医源性CJD的报道。中枢神经系统研究的分子生物化学表明，一种宿主编码的蛋白质——朊病毒蛋白（PrP），其积累与感染滴度成正比：这种异常是TSE中唯一可检测到的标志。感染部分不含可检测到的特异性核酸，主要由一种抗蛋白酶K消化的异构体PrP（PrP-res）组成。PrP基因（PRNP）位于人类第20号染色体上。在所有遗传性TSE（CJD、GSS和IFF）中均已描述了该基因的几种突变。目前尚无治疗方法。诱发TSE的病原体（TSA）尚不明确：一些作者声称TSA仅由PrP-res组成；另一些人则支持存在具有特定遗传信息的传统病原体这一假说。
