Guo Yan-Jun, Wang Xiao-Fan, Han Jun, Zhang Bao-Yun, Zhao Wei-Qin, Shi Qi, Wan Yan-Zhen, Gao Chen, Li Ji-Mei, Wang De-Xin, Dong Xiao-Ping
Department of Neurology, Beijing Friendship Hospital, Capital Medical University, Beijing, People's Republic of China.
Am J Med Sci. 2008 Dec;336(6):519-23. doi: 10.1097/MAJ.0b013e3181643e50.
We evaluated the features of neuropathology, abnormal prion protein (PrP) molecules, and clinical data of a Chinese woman diagnosed with familiar Creutzfeldt-Jakob disease (CJD), having 7 octa-repeats inserted with codon 129 methionine homozygote in the PRNP gene.
Neuropathologic characteristics of the brain were analyzed by hemotoxylin-eosin stain and electronic microscopy. The presence of abnormal PrP in brains was detected by proteinase K and PrP molecules were evaluated by deglycosylation assay.
Spongiform degeneration, with diffuse neuronal loss and mild astrocytic gliosis, as well as with profound degeneration of neurons and astrocytes was observed. Proteinase K-resistant PrP was deposited widely in various regions of the brain. Calculation of the glycosylation ratios of proteinase K-resistant PrP molecules identified that the monoglycosyl isomer was predominant. PrP deglycosylation tests allowed for the identification of a predominant 19-kDa PrP signal that represents a partially proteolytic C-terminal segment, a 27-kDa band that represents the full-length wild-type PrP molecule, and a 30-kDa band that probably corresponds to the full-length mutant PrP molecule.
: Sporadic CJD-like neuropathologic changes and deposits of proteinase K-resistant PrP have been identified in this familiar CJD case with a 168 base pair nucleotide insertion. The clinical features differ from previously reported cases that had 7 octa-repeat insertion, but bear similarities to sporadic CJD.
我们评估了一名被诊断为家族性克雅氏病（CJD）的中国女性的神经病理学特征、异常朊病毒蛋白（PrP）分子及临床数据，该女性在PRNP基因中第129密码子甲硫氨酸纯合子处插入了7个八肽重复序列。
通过苏木精-伊红染色和电子显微镜分析脑的神经病理学特征。用蛋白酶K检测脑中异常PrP的存在，并通过去糖基化试验评估PrP分子。
观察到海绵状变性，伴有弥漫性神经元丢失和轻度星形细胞胶质增生，以及神经元和星形细胞的严重变性。抗蛋白酶K的PrP广泛沉积于脑的各个区域。对抗蛋白酶K的PrP分子的糖基化比率计算表明，单糖基异构体占主导。PrP去糖基化试验可鉴定出一个主要的19 kDa PrP信号，代表部分蛋白水解的C末端片段，一个27 kDa条带代表全长野生型PrP分子，以及一个30 kDa条带可能对应全长突变型PrP分子。
在这例有168个碱基对核苷酸插入的家族性CJD病例中，已鉴定出散发性CJD样神经病理学改变和抗蛋白酶K的PrP沉积。临床特征与先前报道的有7个八肽重复插入的病例不同，但与散发性CJD有相似之处。
