在一例VCP突变为D395G的空泡tau病病例中,Tau丝与慢性创伤性脑病折叠在一起

IF 9.3 1区 医学 Q1 CLINICAL NEUROLOGY Acta Neuropathologica Pub Date : 2024-05-17 DOI:10.1007/s00401-024-02741-x
Chao Qi, Ryota Kobayashi, Shinobu Kawakatsu, Fuyuki Kametani, Sjors H. W. Scheres, Michel Goedert, Masato Hasegawa
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引用次数: 0

摘要

编码含缬氨酸蛋白的基因中的显性遗传突变 D395G 会导致空泡性 tau 病,这是一种行为变异型额颞叶痴呆症,具有明显的空泡化和丰富的丝状 tau 包涵体,由所有六种脑异构体组成。在这里,我们报告了一个空泡型tau病病例,其tau包涵体集中在额颞叶皮层的II/III层。通过电子冷冻显微镜观察,tau丝具有慢性创伤性脑病(CTE)的特征。空泡型tau蛋白病的tau包涵体与CTE、亚急性硬化性泛脑炎和肌萎缩性脊髓侧索硬化症/帕金森氏症-痴呆综合症具有相同的皮质位置和tau褶皱,这些疾病被认为是由环境诱发的。空泡型tau蛋白病是第一种具有CTE tau蛋白褶皱的遗传性疾病。
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Tau filaments with the chronic traumatic encephalopathy fold in a case of vacuolar tauopathy with VCP mutation D395G

Dominantly inherited mutation D395G in the gene encoding valosin-containing protein causes vacuolar tauopathy, a type of behavioural-variant frontotemporal dementia, with marked vacuolation and abundant filamentous tau inclusions made of all six brain isoforms. Here we report that tau inclusions were concentrated in layers II/III of the frontotemporal cortex in a case of vacuolar tauopathy. By electron cryomicroscopy, tau filaments had the chronic traumatic encephalopathy (CTE) fold. Tau inclusions of vacuolar tauopathy share this cortical location and the tau fold with CTE, subacute sclerosing panencephalitis and amyotrophic lateral sclerosis/parkinsonism-dementia complex, which are believed to be environmentally induced. Vacuolar tauopathy is the first inherited disease with the CTE tau fold.

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来源期刊
Acta Neuropathologica
Acta Neuropathologica 医学-病理学
CiteScore
23.70
自引率
3.90%
发文量
118
审稿时长
4-8 weeks
期刊介绍: Acta Neuropathologica publishes top-quality papers on the pathology of neurological diseases and experimental studies on molecular and cellular mechanisms using in vitro and in vivo models, ideally validated by analysis of human tissues. The journal accepts Original Papers, Review Articles, Case Reports, and Scientific Correspondence (Letters). Manuscripts must adhere to ethical standards, including review by appropriate ethics committees for human studies and compliance with principles of laboratory animal care for animal experiments. Failure to comply may result in rejection of the manuscript, and authors are responsible for ensuring accuracy and adherence to these requirements.
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