Gambetti Pierluigi, Kong Qingzhong, Zou Wenquan, Parchi Piero, Chen Shu G
Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106, USA.
Br Med Bull. 2003;66:213-39. doi: 10.1093/bmb/66.1.213.
Prion diseases are unique transmissible neurodegenerative diseases that have diverse phenotypes and can be familial, sporadic, or acquired by infection. Recent findings indicate that the PrP genotype and the PrP(Sc) type have a major influence on the disease phenotype in both sporadic and familial human prion diseases. This review attempts to classify and characterise sporadic and familial Creutzfeldt-Jakob disease (CJD) as a function of these two disease determinants. Based on the genotype at codon 129 on both PRNP alleles, the size of protease resistant PrP(Sc) fragments and disease phenotype, we divide sporadic CJD into six subtypes: sCJDMM1/sCJDMV1, sCJDVV2, sCJDMV2, sCJDMM2, sCJDVV1, and sporadic fatal insomnia (sFI). Familial CJD is classified into many haplotypes based on the PRNP mutation and codon 129 (and other polymorphic codons) on the mutant allele. The clinical and pathological features are summarised for each sporadic CJD subtype and familial CJD haplotype.
朊病毒病是一类独特的可传播性神经退行性疾病，具有多种表型，可呈家族性、散发性或通过感染获得。最近的研究结果表明，在散发性和家族性人类朊病毒病中，朊蛋白（PrP）基因型和PrP(Sc)类型对疾病表型有重大影响。本综述试图根据这两个疾病决定因素对散发性和家族性克雅氏病（CJD）进行分类和特征描述。基于PRNP两个等位基因第129密码子的基因型、蛋白酶抗性PrP(Sc)片段的大小和疾病表型，我们将散发性CJD分为六个亚型：sCJDMM1/sCJDMV1、sCJDVV2、sCJDMV2、sCJDMM2、sCJDVV1和散发性致死性失眠症（sFI）。家族性CJD根据PRNP突变以及突变等位基因上的第129密码子（和其他多态性密码子）分为许多单倍型。对每个散发性CJD亚型和家族性CJD单倍型的临床和病理特征进行了总结。
