Dura mater graft-associated Creutzfeldt-Jakob disease in Japan: Clinicopathological and molecular characterization of the two distinct subtypes
Dura mater graft-associated Creutzfeldt-Jakob disease in Japan: Clinicopathological and molecular characterization of the two distinct subtypes
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DOI：
10.1111/j.1440-1789.2008.00987.x
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发表时间：
2009-10-01
期刊：
影响因子：
2.3
通讯作者：
Mizusawa, Hidehiro
中科院分区：
文献类型：
--
作者：
Yamada, Masahito;Noguchi-Shinohara, Moeko;Mizusawa, Hidehiro
截至2008年2月，日本共发现132例硬脑膜移植相关性克雅氏病(dCJD)患者，占全球dCJD患者的大多数。这些患者从1978年至1993年接受了硬脑膜移植。Lyodura (R)（B. Braun，梅尔松根，德国）用于所有可以识别硬脑膜品牌名称的患者。经过 1 至 25 年（平均 11.8 年）的潜伏期后，克雅氏病从 1985 年至 2006 年出现。我们分析了克雅氏病监测委员会前瞻性登记的 74 名 dCJD 患者的临床、病理和分子特征。 dCJD 病例可分为两种不同的临床病理表型：非斑块型，显示出与经典 CJD 相同的典型特征；斑块型，以非典型特征为特征，包括进展缓慢、脑电图上缺乏或较晚出现周期性尖波复合体以及大脑中形成斑块。斑块型占病理确诊或临床诊断的dCJD病例的三分之一。除一名具有 129M/缬氨酸 (V) 基因型和 1 型蛋白酶抗性 PrP (PrPres) 的患者外，所有患者中的非斑块类型均与 PrP 基因密码子 129 (129M/M) 的蛋氨酸纯合性相关，而斑块类型始终与 129M/M 基因型以及 PrPres 1 型和 2 型之间的中间类型相关。案例。因此，斑块型的临床病理学和分子特征与非斑块型不同，表明硬脑膜移植物被不同的朊病毒株污染。
Up to February 2008, a total of 132 patients with dura mater graft-associated Creutzfeldt-Jakob disease (dCJD) have been identified in Japan, accounting for a majority of the world's patients with dCJD. The patients received dura mater grafts from 1978 to 1993. Lyodura (R) (B. Braun, Melsungen, Germany) was used for all the patients in whom the brand name of the dura mater could be identified. After the incubation period of 1 to 25 years (mean, 11.8 years), CJD appeared from 1985 through to 2006. We analyzed clinical, pathological, and molecular features in 74 patients with dCJD who had been prospectively registered by the CJD Surveillance Committee. The cases of dCJD could be classified into two distinct clinicopathological phenotypes: a non-plaque type, showing typical features identical with those of classic CJD, and a plaque type, characterized by atypical features, including slow progression, lack of or late occurrence of periodic sharp wave complexes on EEG, and plaque formation in the brain. The plaque type accounted for one-third of the pathologically confirmed or clinically diagnosed cases of dCJD. The non-plaque type was associated with methionine homozygosity at codon 129 (129M/M) of the PrP gene in all patients, except for in one patient with the 129M/valine (V) genotype and type 1 protease-resistant PrP (PrPres), whereas the plaque type was always associated with the 129M/M genotype and the intermediate type between types 1 and 2 of PrPres in all cases. Thus, the clinicopathological and molecular features of the plaque type are distinct from those of the non-plaque type, suggesting contamination of the dura mater grafts with different prion strains.