Different Complicated Brain Pathologies in Monozygotic Twins With Gerstmann-Straussler-Scheinker Disease.
Different Complicated Brain Pathologies in Monozygotic Twins With Gerstmann-Straussler-Scheinker Disease.
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患有格斯特曼-施特劳斯勒-沙因克病的同卵双胞胎中不同的复杂脑部病理学。
DOI：
10.1093/jnen/nlx068
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发表时间：
2017
影响因子：
3.2
通讯作者：
Hiroyuki Honda
中科院分区：
文献类型：
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作者：
Norihisa Maeda;Hiroyuki Honda;Satoshi O Suzuki;et al.;Hiroyuki Honda;Hiroyuki Honda
Gerstmann-Sträussler-Scheinker病(GSS)是一种常染色体显性遗传性Pron病。在这项研究中，我们提出了不同复杂的脑病理确定的GSS同卵双胞胎姐妹死后。例1表现为小脑性共济失调，年龄58 ，死亡时间66 。例2在75 岁时出现症状，79 岁时死亡。这对双胞胎的发病年龄相差17岁。尸检发现两名患者的大脑中都有大量的普恩蛋白(PrP)斑块。病例1的海绵状改变和脑萎缩较病例2严重。免疫印迹分析显示，双生子中存在相对分子质量为21~30 kDa和8 kDa的抗蛋白酶PrP。凝胶过滤表明PrPress主要由PrP齐聚物组成。这对双胞胎之间的预信号模式相似。此外，例1显示α-突触核素病，例2显示阿尔茨海默病病理。这些不同的蛋白病变参与了这两个病例的淀粉样斑块的形成。GSS的病理程度主要与病程有关。淀粉样斑块的形成可被伴随的神经病理改变所装饰，如α-突触核病症和变态反应性疾病。
Gerstmann–Sträussler–Scheinker disease (GSS) is an autosomal, dominantly inherited prion disease. In this study, we present different complicated brain pathologies determined postmortem of monozygotic GSS twin sisters. Case 1 showed cerebellar ataxia at the age of 58 years, and died at 66 years. Case 2 became symptomatic at the age of 75 years, and died at 79 years. There was a 17-year difference in the age of onset between the twins. Postmortem examination revealed numerous prion protein (PrP) plaques in the brains of both cases. The spongiform change and brain atrophy in case 1 were more severe compared with those in case 2. Western-blot analysis identified proteinase-resistant PrP (PrPres) at the molecular weight of 21–30 kDa and 8 kDa in the twins. Gel filtration revealed that PrPreswas mainly composed of PrP oligomer. PrPressignal patterns were similar between the twins. Additionally, case 1 showed α-synucleinopathy and case 2 showed Alzheimer disease pathology. These different proteinopathies were involved in the amyloid plaque formations of both cases. The degree of GSS pathology was mainly related to disease duration. The amyloid plaque formations could be decorated by concomitant neuropathological changes such as α-synucleinopathy and tauopathy.