Department of Molecular Pathology and Neuropathology, Medical University Lodz, Lodz, Poland.
Adv Exp Med Biol. 2012;724:76-90. doi: 10.1007/978-1-4614-0653-2_6.
Creutzfeldt-Jakob disease (CJD), a neurodegenerative disorder that is the commonest form of human prion disease or transmissible spongiform encephalopathies (TSEs). Four types of CJD are known: Sporadic (sCJD), familial or genetic (gCJD); iatrogenic (iCJD) and variant CJD (vCJD). The latter results from transmission of bovine spongiform encephalopathy (BSE) from cattle to humans. The combination of PrP(Sc) peptide (either 21 kDa or 19 kDa) and the status of the codon 129 of the gene (PRNP) encoding for PrP (either Methionine or Valine) is used to classify sCJD into 6 types: MM1 and MV1, the most common; VV2; MV2 (Brownell/Oppenheimer syndrome); MM2; VV1 and sporadic fatal insomnia, in that order of prevalence. Genetic CJD is caused by diverse mutations in the PRNP gene. The neuropathology of CJD consists of spongiform change, astro- and microgliosis and poorly defined neuronal loss. In a proportion of cases, amyloid plaques, like those of kuru, are seen. PrP immunohistochemistry reveals different types of PrP(Sc) deposits - the most common is the synaptic-type, but perivacuolar, perineuronal and plaque-like deposits may be also detected.
克雅氏病（CJD），一种神经退行性疾病，是人类朊病毒病或传染性海绵状脑病（TSEs）最常见的形式。已知有四种类型的 CJD：散发性（sCJD）、家族性或遗传性（gCJD）、医源性（iCJD）和变异型 CJD（vCJD）。后者是由于牛海绵状脑病（BSE）从牛传播到人引起的。PrP(Sc)肽（21 kDa 或 19 kDa）和编码 PrP 的基因（PRNP）密码子 129 的状态（要么是蛋氨酸，要么是缬氨酸）的组合用于将 sCJD 分为 6 种类型：MM1 和 MV1，最常见；VV2；MV2（Brownell/Oppenheimer 综合征）；MM2；VV1 和散发性致死性失眠，按流行程度依次排列。遗传性 CJD 是由 PRNP 基因中的多种突变引起的。CJD 的神经病理学包括海绵状改变、星形胶质细胞和小胶质细胞增生以及定义不明确的神经元丧失。在一定比例的病例中，会出现像库鲁病那样的淀粉样斑块。PrP 免疫组织化学显示出不同类型的 PrP(Sc)沉积物——最常见的是突触型，但也可能检测到血管周围、神经元周围和斑块样沉积物。
