An autopsy case of MV2K-type sporadic Creutzfeldt-Jakob disease presenting with characteristic clinical, radiological, and neuropathological findings
An autopsy case of MV2K-type sporadic Creutzfeldt-Jakob disease presenting with characteristic clinical, radiological, and neuropathological findings
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DOI：
10.1111/neup.12804
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发表时间：
2022-04-19
期刊：
影响因子：
2.3
通讯作者：
Iwasaki，Yasushi
中科院分区：
文献类型：
--
作者：
Matsuo，Koushun;Goto，Daiki;Iwasaki，Yasushi
在日本，由于MV 2型散发性克雅氏病（CJD）很罕见，对其临床和神经病理学特征知之甚少。本文报告一例MV 2K型散发性CJD的尸检病例，并讨论了其特征性的临床、影像学和神经病理学表现。患者是一名日本女性，在72岁时死亡。她最初的症状是快速进展性痴呆。然后，她发展躯干共济失调和妄想症。发病后约9个月，她表现出运动不能性缄默症。总的临床病程为11个月。磁共振成像显示扩散加权图像上基底节、丘脑和海马的高信号区。在大脑皮层，这一发现是轻微的，不明显。脑电图显示无周期性尖波复合波。朊病毒蛋白（PrP）基因分析显示没有突变，多态性密码子129表现出蛋氨酸和缬氨酸杂合性。在脑脊液中，总tau蛋白和14 - 3 - 3蛋白的水平均升高。大体上，固定前大脑重量为1050 g，表现出弥漫性皮质萎缩。在组织病理学检查中，在大脑皮质中观察到广泛的细空泡型海绵状变性。在小脑中观察到许多库鲁斑。PrP免疫组织化学显示大脑皮质中广泛的弥漫性突触和神经元周型PrP沉积。库鲁斑块强烈的免疫反应性PrP。脑组织样品的Western印迹分析显示混合型2和中间型。准确的诊断需要对临床和神经病理学方面进行系统和全面的调查。
In Japan, because MV2‐type sporadic Creutzfeldt–Jakob disease (CJD) is rare, little is known about its clinical and neuropathological characteristics. An autopsy case of MV2K‐type sporadic CJD is presented, and the characteristic clinical, radiological, and neuropathological findings are discussed. The patient was a Japanese woman who died at the age of 72 years. Her initial symptom was rapidly progressive dementia. She then developed truncal ataxia and delusions. Approximately nine months after onset, she exhibited akinetic mutism. The total clinical course was 11 months. Magnetic resonance imaging revealed hyperintensity areas in the basal ganglia, thalamus, and hippocampus on diffusion‐weighted images. In the cerebral cortex, this finding was slight and inconspicuous. Electroencephalography revealed no periodic sharp wave complexes. Prion protein (PrP) gene analysis revealed no mutations, and polymorphic codon 129 exhibited methionine and valine heterozygosity. In the cerebrospinal fluid, levels of both total tau and 14‐3‐3 proteins were elevated. Grossly, the brain weighed 1050 g before fixation and exhibited diffuse cortical atrophy. On histopathological examination, extensive fine vacuole‐type spongiform degeneration was noted in the cerebral cortex. Numerous kuru plaques were observed in the cerebellum. PrP immunohistochemistry revealed extensive diffuse synaptic‐ and perineuronal‐type PrP deposits in the cerebral cortex. Kuru plaques were strongly immunoreactive for PrP. Western blot analysis of brain tissue samples revealed mixed type 2 and intermediate type. Systematic and comprehensive investigations of both clinical and neuropathological aspects are required for accurate diagnosis.