Emerg Infect Dis. 2018 Jul;24(7):1364-1366. doi: 10.3201/eid2407.172105.
A patient with a heterozygous variant of Creutzfeldt-Jakob disease (CJD) with a methionine/valine genotype at codon 129 of the prion protein gene was recently reported. Using an ultrasensitive and specific protein misfolding cyclic amplification-based assay for detecting variant CJD prions in cerebrospinal fluid, we discriminated this heterozygous case of variant CJD from cases of sporadic CJD.
最近有报道称，一名克雅氏病（CJD）杂合变异体患者的朊病毒蛋白基因第 129 位密码子的蛋氨酸/缬氨酸基因型为杂合子。我们使用一种超灵敏和特异的基于蛋白质错误折叠循环扩增的检测方法来检测脑脊液中的变异型 CJD 朊病毒，从而将该变异型 CJD 的杂合病例与散发性 CJD 病例区分开来。
