An autopsy case of MV 2K + C subtype of Creutzfeldt-Jakob disease.

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY
Neuropathology Pub Date : 2024-08-01 Epub Date: 2024-02-14 DOI:10.1111/neup.12964
Akiko Uchino, Yuko Saito, Sho Tokuda, Yagishita Saburo, Shigeo Murayama, Kazuko Hasegawa
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引用次数: 0

Abstract

Methionine/valine (MV) 2 type of sporadic Creutzfeldt-Jakob (sCJD) is divided into three subtypes based on neuropathological criteria: MV2-kuru (MV2K), MV2-cortical (MV2C), and MV2K + C, exhibiting the co-occurrence of these two pathological features. We report an autopsy case of MV2K + C subtype of sCJD. A 46-year-old Japanese man began to make mistakes at work. Two months later, he gradually developed gait instability. The initial neurological examination revealed limb ataxia and myoclonus. Diffusion-weighted images (DWI) showed a hyperintensity in the right frontal cortex, basal ganglia, and thalamus. Ten months after the onset of disease, he fell into akinetic mutism. He died at 47 years of age, 12 months after the initial presentation. Pathological investigation revealed microvacuolation and confluent vacuoles in the cerebral cortex. In the basal ganglia and thalamus, there was severe neuronal loss and gliosis with mild spongiform change. Kuru plaques were found within the cerebellum. Prion protein (PrP) immunostaining revealed synaptic, perivacuolar, perineuronal, and plaque-like deposits in the cerebral cortex. There were synaptic and plaque-like PrP deposits in the basal ganglia, thalamus, and granular cell layer of the cerebellum. In these areas, plaque-like deposits mainly consisted of small deposits, whereas plaque-like deposits in the cerebral cortex consisted both of coarse granular and small deposits. Analysis of the PrP gene showed no pathogenic mutations, and Western blot examination revealed a mixture of type 2 and intermediate-type PrP. The progressive cognitive decline and ataxia in addition to the hyperintensity in the basal ganglia and/or thalamus on DWI are the basis for clinical diagnosis of MV2. The severe gliosis in the basal ganglia and various morphologies of plaque-like deposits that differ by the region may be characteristic of MV2K + C. Detailed neuropathological examination together with Western blot analysis is important to collect more cases for elucidating the pathogenesis of MV2K + C.

一例克雅氏病 MV 2K + C 亚型尸检病例。
蛋氨酸/缬氨酸(MV)2 型散发性克雅氏病(sCJD)根据神经病理学标准分为三个亚型:MV2-库鲁型(MV2K)、MV2-皮层型(MV2C)和MV2K + C型这两种病理特征同时存在。我们报告了一例尸检发现的 MV2K + C 亚型 sCJD 病例。一名 46 岁的日本男子开始在工作中犯错。两个月后,他逐渐出现步态不稳。最初的神经系统检查显示他有肢体共济失调和肌阵挛。弥散加权成像(DWI)显示右侧额叶皮层、基底节和丘脑出现高密度。发病 10 个月后,他陷入了运动性缄默症。初次发病 12 个月后,他在 47 岁时去世。病理检查发现,大脑皮层有微小空泡和汇合空泡。基底节和丘脑出现严重的神经元缺失和胶质增生,并伴有轻微的海绵样变。小脑中发现了库鲁斑。朊病毒蛋白(PrP)免疫染色显示,大脑皮层出现突触、小脑周围、神经元周围和斑块样沉积。基底节、丘脑和小脑颗粒细胞层有突触和斑块样PrP沉积。在这些区域,斑块样沉积物主要由小沉积物组成,而大脑皮层的斑块样沉积物则由粗颗粒状沉积物和小沉积物组成。PrP基因分析表明没有致病突变,Western印迹检查显示混合了2型和中间型PrP。除了基底节和/或丘脑在 DWI 上的高密度外,进行性认知能力下降和共济失调也是 MV2 临床诊断的依据。基底节严重胶质增生和不同区域不同形态的斑块样沉积物可能是 MV2K + C 的特征。详细的神经病理学检查和 Western 印迹分析对于收集更多病例以阐明 MV2K + C 的发病机制非常重要。
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来源期刊
Neuropathology
Neuropathology 医学-病理学
CiteScore
4.10
自引率
4.30%
发文量
105
审稿时长
6-12 weeks
期刊介绍: Neuropathology is an international journal sponsored by the Japanese Society of Neuropathology and publishes peer-reviewed original papers dealing with all aspects of human and experimental neuropathology and related fields of research. The Journal aims to promote the international exchange of results and encourages authors from all countries to submit papers in the following categories: Original Articles, Case Reports, Short Communications, Occasional Reviews, Editorials and Letters to the Editor. All articles are peer-reviewed by at least two researchers expert in the field of the submitted paper.
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