The Prion Diseases
The Prion Diseases
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DOI：
10.1177/0891988710383576
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发表时间：
2010-12-01
影响因子：
2.6
通讯作者：
Mastrianni, James A.
中科院分区：
文献类型：
--
作者：
Brown, Khalilah;Mastrianni, James A.
朊病毒病是一种罕见的神经退行性疾病家族，其由朊病毒蛋白（PrP）的错误折叠同种型的积累引起，朊病毒蛋白是神经元膜的正常成分。五种亚型构成已知的人类朊病毒疾病：库鲁病、克雅氏病（CJD）、格-斯-沙三氏综合征（GSS）、致命性失眠症（FI）和变异型克雅氏病（vCJD）。这些亚型的区别，部分是通过其临床表型，但主要是通过其相关的脑组织病理学。有证据表明，这些表型是由错误折叠的PrP的致病构象的差异所定义的。虽然绝大多数病例是散发性的，但10%至15%的病例是由PrP基因（PRNP）的常染色体显性突变引起的。CJD、GSS和FI的主要亚型可以进行一般的表型-基因型相关。本文将回顾一些与朊病毒生物学相关的一般背景，并详细介绍主要朊病毒疾病的临床和病理特征，特别关注导致朊病毒疾病或其风险或表型改变的遗传方面。
The prion diseases are a family of rare neurodegenerative disorders that result from the accumulation of a misfolded isoform of the prion protein (PrP), a normal constituent of the neuronal membrane. Five subtypes constitute the known human prion diseases; kuru, Creutzfeldt-Jakob disease (CJD), Gerstmann-Straussler-Scheinker syndrome (GSS), fatal insomnia (FI), and variant CJD (vCJD). These subtypes are distinguished, in part, by their clinical phenotype, but primarily by their associated brain histopathology. Evidence suggests these phenotypes are defined by differences in the pathogenic conformation of misfolded PrP. Although the vast majority of cases are sporadic, 10% to 15% result from an autosomal dominant mutation of the PrP gene (PRNP). General phenotype-genotype correlations can be made for the major subtypes of CJD, GSS, and FI. This paper will review some of the general background related to prion biology and detail the clinical and pathologic features of the major prion diseases, with a particular focus on the genetic aspects that result in prion disease or modification of its risk or phenotype.