成人发病的神经元核内包涵病伴液体衰减反转的神经病理学特征:早期在小脑皮层旁区恢复高强度信号1例报告。

IF 0.8 4区医学 Q4 CLINICAL NEUROLOGY

Clinical Neuropathology Pub Date : 2023-03-01 DOI:10.5414/NP301499

Taku Homma, Utako Nagaoka, Yasuhiro Nakata, Jun Sone, Asuka Funai, Aki Murayama, Cisato Tamai, Takashi Komori, Kazushi Takahashi

{"title":"成人发病的神经元核内包涵病伴液体衰减反转的神经病理学特征:早期在小脑皮层旁区恢复高强度信号1例报告。","authors":"Taku Homma, Utako Nagaoka, Yasuhiro Nakata, Jun Sone, Asuka Funai, Aki Murayama, Cisato Tamai, Takashi Komori, Kazushi Takahashi","doi":"10.5414/NP301499","DOIUrl":null,"url":null,"abstract":"Neuronal intranuclear inclusion disease (NIID) is a neurological disorder characterized by eosinophilic intranuclear inclusions (INI) in systemic organs and various cell types. High-intensity signals along the corticomedullary junction on diffusion-weighted imaging and presence of cellular p62-INI in skin biopsy are known indicators for NIID. Furthermore, GGC repeat expansion in NOTCH2NLC is a characteristic genetic alteration in patients with NIID. This report presents the clinical and detailed pathological features of a male older adult with NIID. We also confirmed the presence of fluid-attenuated inversion recovery high-intensity signals in the cerebellar paravermal area, showing similar pathological changes in high-intensity signals along the corticomedullary junction on diffusion-weighted imaging.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"42 2","pages":"66-73"},"PeriodicalIF":0.8000,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Neuropathological features of adult-onset neuronal intranuclear inclusion disease with fluid-attenuated inversion recovery high-intensity signals in the cerebellar paravermal area from an early stage: A case report.\",\"authors\":\"Taku Homma, Utako Nagaoka, Yasuhiro Nakata, Jun Sone, Asuka Funai, Aki Murayama, Cisato Tamai, Takashi Komori, Kazushi Takahashi\",\"doi\":\"10.5414/NP301499\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Neuronal intranuclear inclusion disease (NIID) is a neurological disorder characterized by eosinophilic intranuclear inclusions (INI) in systemic organs and various cell types. High-intensity signals along the corticomedullary junction on diffusion-weighted imaging and presence of cellular p62-INI in skin biopsy are known indicators for NIID. Furthermore, GGC repeat expansion in NOTCH2NLC is a characteristic genetic alteration in patients with NIID. This report presents the clinical and detailed pathological features of a male older adult with NIID. We also confirmed the presence of fluid-attenuated inversion recovery high-intensity signals in the cerebellar paravermal area, showing similar pathological changes in high-intensity signals along the corticomedullary junction on diffusion-weighted imaging.\",\"PeriodicalId\":55251,\"journal\":{\"name\":\"Clinical Neuropathology\",\"volume\":\"42 2\",\"pages\":\"66-73\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2023-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Neuropathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.5414/NP301499\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Neuropathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5414/NP301499","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

摘要

神经元核内包涵体病(NIID)是一种以全身器官和各种细胞类型的嗜酸性核内包涵体(INI)为特征的神经系统疾病。扩散加权成像上沿皮质-髓交界处的高强度信号和皮肤活检中细胞p62-INI的存在是NIID的已知指标。此外，NOTCH2NLC中的GGC重复扩增是NIID患者的特征性遗传改变。本文报告了一位老年男性NIID的临床和详细病理特征。我们也证实了小脑皮层旁区存在液体衰减反转恢复高强度信号，在弥散加权成像上显示沿皮质-延髓交界处的高强度信号有类似的病理变化。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Neuropathological features of adult-onset neuronal intranuclear inclusion disease with fluid-attenuated inversion recovery high-intensity signals in the cerebellar paravermal area from an early stage: A case report.

Neuronal intranuclear inclusion disease (NIID) is a neurological disorder characterized by eosinophilic intranuclear inclusions (INI) in systemic organs and various cell types. High-intensity signals along the corticomedullary junction on diffusion-weighted imaging and presence of cellular p62-INI in skin biopsy are known indicators for NIID. Furthermore, GGC repeat expansion in NOTCH2NLC is a characteristic genetic alteration in patients with NIID. This report presents the clinical and detailed pathological features of a male older adult with NIID. We also confirmed the presence of fluid-attenuated inversion recovery high-intensity signals in the cerebellar paravermal area, showing similar pathological changes in high-intensity signals along the corticomedullary junction on diffusion-weighted imaging.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Clinical Neuropathology 医学-病理学

CiteScore

1.60

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Clinical Neuropathology appears bi-monthly and publishes reviews and editorials, original papers, short communications and reports on recent advances in the entire field of clinical neuropathology. Papers on experimental neuropathologic subjects are accepted if they bear a close relationship to human diseases. Correspondence (letters to the editors) and current information including book announcements will also be published.