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Updated: Jul 28, 2025

Protein Misfolding Cyclic Amplification of Prions

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Published on: November 7, 2012

一个对蛋白酶敏感性变异的尸检病例,在129号码区具有Met/Met同质性

Akiko Uchino^1,2, Yuko Saito³, Saori Oonuma⁴

¹Department of Preventive Medical Center, Kitasato University Kitasato Institute Hospital, Tokyo, Japan.

Neuropathology : official journal of the Japanese Society of Neuropathology

|May 30, 2023

概括

本病例报告详细介绍了变异性蛋白酶敏感性普里奥帕蒂 (VPSPr),一种罕见的痴呆症,呈现异常症状. 早期诊断对于区分VPSPr与零星克鲁茨菲尔特-雅各布病 (sCJD) 尽管有负面生物标志物至关重要.

科学领域:

神经学神经学
病理学病理学病理学
子疾病是子疾病.

背景情况:

散发性克鲁茨菲尔特-雅各布病 (sCJD) 通常表现为快速痴呆和肌细胞结核.
非典型的sCJD病例表现出不同的表型,使诊断复杂化.
变性蛋白酶敏感性隐性病 (VPSPr) 是一种罕见的隐性病,临床表现不同.

研究的目的:

报告日本首例尸检确认的VPSPr病例.
突出了非典型的VPSPr呈现所带来的诊断挑战.
强调在非典型痴呆症的差异诊断中考虑VPSPr的重要性.

主要方法:

尸体解剖和神经病理学检查一个81岁的老妇人与渐进的记忆丧失.
脑脊液 (CSF) 分析,包括14-3-3蛋白质测定和实时震动诱导转换 (RT-QuIC).
对PRNP基因和西方布洛特对蛋白 (PrP) 特性进行遗传分析.

主要成果:

患者出现记忆丧失和失言症,缺乏典型的sCJD运动症状.
脑脊液测试 (14-3-3蛋白,RT-QuIC) 的结果是负的.
神经病理学揭示了海绵状变化,神经元损失,化和VPSPr特定的PrP免疫染模式. 西方斑点证实了缺少一个dwglycosylated带.

结论:

VPSPr可以呈现出可变和非特异性的临床症状,模仿其他非典型痴呆症.
对于皮质DWI过强度的非典型痴呆症的诊断考虑应包括VPSPr,特别是当CSF生物标志物为负时.
VPSPr可能比sCJD有更长的临床过程,需要长期的随访.

关键词:

克鲁茨菲尔特 - 雅各布病是什么?西方黑斑是因为西方黑斑.尸体解剖尸体解剖是什么意思病是普里翁病的一种疾病.变异性蛋白质酶敏感的普里奥巴提病.

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