Neuropathology of spinocerebellar ataxia type 8: Common features and unique tauopathy.

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Neuropathology Pub Date : 2023-10-01 Epub Date: 2023-01-26 DOI:10.1111/neup.12894

Yuki Yonenobu, Goichi Beck, Kansuke Kido, Norihisa Maeda, Rika Yamashita, Kimiko Inoue, Yuko Saito, Masato Hasegawa, Hidefumi Ito, Kazuko Hasegawa, Eiichi Morii, Toru Iwaki, Shigeo Murayama, Hideki Mochizuki

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引用次数: 2

Abstract

Spinocerebellar ataxia type 8 (SCA8) is a neurodegenerative condition that presents with several neurological symptoms, such as cerebellar ataxia, parkinsonism, and cognitive impairment. It is caused by a CTA/CTG repeat expansion on chromosome 13q21 (ataxin 8 opposite strand [ATXN8OS]). However, the pathological significance of this expansion remains unclear. Moreover, abnormal CTA/CTG repeat expansions in ATXN8OS have also been reported in other neurodegenerative diseases, including progressive supranuclear palsy. In this study, we analyzed all available autopsy cases in Japan to investigate common pathological features and profiles of tau pathology in each case. Severe neuronal loss in the substantia nigra and prominent loss of Purkinje cells, atrophy of the molecular layer, and proliferation of Bergmann glia in the cerebellum were common features. Regarding tauopathy, one case presented with progressive supranuclear palsy-like 4-repeat tauopathy in addition to mild Alzheimer-type 3- and 4-repeat tauopathy. Another case showed 3- and 4-repeat tauopathy accentuated in the brainstem. The other two cases lacked tauopathy after extensive immunohistochemical studies. The present study confirmed common pathological features of SCA8 as degeneration of the substantia nigra in addition to the cerebellum. Our study also confirmed unique tauopathy in two of four cases, indicating the necessity to further collect autopsy cases.

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脊髓小脑共济失调8型的神经病理学：常见特征和独特的tau病。

8型脊髓角性共济失调（SCA8）是一种神经退行性疾病，表现为几种神经系统症状，如小脑共济失调、帕金森病和认知障碍。它是由染色体13q21（ataxin 8相反链[ATXN8OS]）上的CTA/CTG重复扩增引起的。然而，这种扩张的病理意义尚不清楚。此外，ATXN8OS中CTA/CTG重复序列的异常扩增在其他神经退行性疾病中也有报道，包括进行性核上性麻痹。在这项研究中，我们分析了日本所有可用的尸检病例，以调查每个病例的常见病理特征和tau病理特征。黑质神经元严重缺失，浦肯野细胞明显缺失，分子层萎缩，小脑Bergmann胶质细胞增殖是常见特征。关于tau病，一例除轻度阿尔茨海默病3型和4型tau病外，还表现为进行性核上性麻痹样4重复tau病。另一例表现为脑干中3和4个重复tau病变加重。在广泛的免疫组织化学研究后，另外两个病例缺乏tau病。本研究证实SCA8的常见病理特征为除小脑外的黑质变性。我们的研究还证实了四个病例中有两个病例存在独特的tau病，这表明有必要进一步收集尸检病例。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

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.