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.
Taku Homma, Utako Nagaoka, Yasuhiro Nakata, Jun Sone, Asuka Funai, Aki Murayama, Cisato Tamai, Takashi Komori, Kazushi Takahashi
{"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":"<p><p>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 <i>NOTCH2NLC</i> 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.</p>","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}
引用次数: 0
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.
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.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
