A case of neuronal intranuclear inclusion disease (NIID) presenting with hydrocephalus-like clinical features: case report

Authors: Yonghong Wang, Yongxiang Li, Wei Pan, Yuezhen Shen, Junxia Li, Ying Liu, Yuhua Peng, Shulai Zhu

Source: BMC Neurology, Vol 25, Iss 1, Pp 1-6 (2025)

Subject Terms: Neuronal intranuclear inclusion disease, Hydrocephalus-like MRI imaging, NOTCH2NLC gene, Case report, Neurology. Diseases of the nervous system, RC346-429

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Relation: https://doaj.org/toc/1471-2377

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A case report of neuronal intranuclear inclusion disease and literature review

Authors: Jie Li, Guogao Zhang, Jianrong Zheng, Jun Hu, Yunong Li

Source: BMC Neurology, Vol 24, Iss 1, Pp 1-11 (2024)

Subject Terms: Neuronal intranuclear inclusion disease, Autoimmune encephalitis, NOTCH2NLC gene, Neurodegenerative disease, Neurology. Diseases of the nervous system, RC346-429

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Relation: https://doaj.org/toc/1471-2377

Access URL: https://doaj.org/article/8a6e7de199f346e193a6015f3dab6ccf

NOTCH2NLC GGC intermediate repeat with serine induces hypermyelination and early Parkinson’s disease-like phenotypes in mice

Authors: Haitao Tu, Xin Yi Yeo, Zhi-Wei Zhang, Wei Zhou, Jayne Yi Tan, Li Chi, Sook-Yoong Chia, Zhihong Li, Aik Yong Sim, Brijesh Kumar Singh, Dongrui Ma, Zhidong Zhou, Isabelle Bonne, Shuo-Chien Ling, Adeline S.L. Ng, Sangyong Jung, Eng-King Tan, Li Zeng

Source: Molecular Neurodegeneration, Vol 19, Iss 1, Pp 1-26 (2024)

Subject Terms: NOTCH2NLC, GGC repeat expansion, Intermediate repeat, AGC interruption, Mitochondrial dysfunction, Hyperexcitability, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6

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Relation: https://doaj.org/toc/1750-1326

Access URL: https://doaj.org/article/53616a0e246543b1ac81004a61f53ceb

Neuronal Intranuclear Inclusion Disease Presenting with Acute-Onset Dementia and Cortical Edema: A Case Report

Authors: Xiao Feng, Yue Li, Qin Zhao, Shabei Xu

Source: Frontiers in Neurology, Vol 15 (2024)

Subject Terms: neuronal intranuclear inclusion disease, dementia, magnetic resonance imaging, NOTCH2NLC gene, neurodegenerative disease, case report, Neurology. Diseases of the nervous system, RC346-429

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Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1464991/full; https://doaj.org/toc/1664-2295

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Screening for NOTCH2NLC gene dynamic mutation in patients with essential tremor

Authors: ZHANG Xinyi, ZHAO Ximeng, YANG Yingmai, WAN Xinhua, CUI Liying, ZHANG Xue, LIU Qing

Source: Jichu yixue yu linchuang, Vol 43, Iss 12, Pp 1778-1783 (2023)

Subject Terms: essential tremor, notch2nlc, genetic screening, Medicine

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Relation: http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2023-43-12-1778.pdf; https://doaj.org/toc/1001-6325

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Clinical features of neuronal intranuclear inclusion disease with seizures: a systematic literature review

Authors: Jinwei Zhang, Ling Ling, Lei Xiang, Wenxia Li, Pengnan Bao, Wei Yue

Source: Frontiers in Neurology, Vol 15 (2024)

Subject Terms: neuronal intranuclear inclusion disease, seizure, diagnosis, prognosis, NOTCH2NLC gene, Neurology. Diseases of the nervous system, RC346-429

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Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1387399/full; https://doaj.org/toc/1664-2295

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Challenges and Perspectives of Neurological Disorders

Contributors: Kung, Woon-Man, Ningrum, Dina Nur Anggraini

Subject Terms: atherosclerotic, residual stenosis, reocclusion, endovascular treatment, Alzheimer’s disease, mild cognitive impairment, tau positron emission tomography, deep learning radiomics, glioblastoma, natural killer cells, immune function, interferon, gross total resection, neuropsychological tests battery, machine learning, screening tool, Florzolotau PET, functional connectivity, neuronal intranuclear inclusion disease, NIID, mitochondrial dysfunction, MELAS, reversible DWI hyperintensities, virtual reality, neurological, cognitive, rehabilitation, diagnosis, metaverse, Erdheim–Chester disease, histiocytosis, neurohistiocytosis, cerebellar ataxia, myelin proteolipid protein, protein structure prediction, functional analysis, multiple sclerosis, amyotrophic lateral sclerosis, NOTCH2NLC, intermediate-length repeats, nucleotide repeat expansion, Tau PET, radiomics, Alzheimer’s Disease, Mild Cognitive Impairment, Medicine and Nursing, Neurosciences

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Access URL: https://directory.doabooks.org/handle/20.500.12854/100778
https://mdpi.com/books/pdfview/book/7240

Expression of expanded GGC repeats within NOTCH2NLC causes cardiac dysfunction in mouse models

Authors: Yongcheng Pan, Ying Jiang, Juan Wan, Zhengmao Hu, Hong Jiang, Lu Shen, Beisha Tang, Yun Tian, Qiong Liu

Source: Cell & Bioscience, Vol 13, Iss 1, Pp 1-16 (2023)

Subject Terms: NOTCH2NLC gene, GGC repeat expansion, NOTCH2NLC-polyG inclusions, Cardiomyocyte, Cardiac dysfunction, Mitochondria, Biotechnology, TP248.13-248.65, Biology (General), QH301-705.5, Biochemistry, QD415-436

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Relation: https://doaj.org/toc/2045-3701

Access URL: https://doaj.org/article/8767305a81f74d1291f3120b40d47fd2

Pathologic changes in neuronal intranuclear inclusion disease are linked to aberrant FUS interaction under hyperosmotic stress

Authors: Hui Wang, Yilei Zheng, Jiaxi Yu, Lingchao Meng, Wei Zhang, Daojun Hong, Zhaoxia Wang, Yun Yuan, Jianwen Deng

Source: Neurobiology of Disease, Vol 190, Iss , Pp 106391- (2024)

Subject Terms: NOTCH2NLC, CGG repeat expansion, polyG, Intranuclear inclusions, Stress granules, FUS, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

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Relation: http://www.sciencedirect.com/science/article/pii/S0969996123004072; https://doaj.org/toc/1095-953X

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Adult-onset neuronal intranuclear inclusion disease related retinal degeneration: a Chinese case series

Authors: Chaoyi Feng, Qian Chen, Xinghua Luan, Ping Sun, Yuwen Cao, Jingying Wu, Shige Wang, Xinghuai Sun, Li Cao, Guohong Tian

Source: Frontiers in Medicine, Vol 11 (2024)

Subject Terms: neuronal intranuclear inclusion disease, NOTCH2NLC gene, retinal dystrophy, optical coherence tomography, fundus autofluorescence, pupilometer, Medicine (General), R5-920

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Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1188193/full; https://doaj.org/toc/2296-858X

Access URL: https://doaj.org/article/3b6a2c7ee2f74422a920d4a3343725e5

NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment

Authors: Jun Sone, Shinji Ueno, Akio Akagi, Hiroaki Miyahara, Chisato Tamai, Yuichi Riku, Hiroyuki Yabata, Ryuichi Koizumi, Tomohiro Hattori, Hiroshi Hirose, Yoshito Koyanagi, Rei Kobayashi, Hisashi Okada, Yoshiyuki Kishimoto, Yoshio Hashizume, Gen Sobue, Mari Yoshida, Yasushi Iwasaki

Source: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-14 (2023)

Subject Terms: NOTCH2NLC, GGC repeat, Neuronal intranuclear inclusion disease, Retinitis Pigmentosa, Leukoencephalopathy, Diffusion weighted image, Neurology. Diseases of the nervous system, RC346-429

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Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/0a9194f661ae43bba7ecee7add442f73

Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy

Authors: Paola Ruffo, Francesca De Amicis, Vincenzo La Bella, Francesca Luisa Conforti

Source: Cells, Vol 13, Iss 8, p 677 (2024)

Subject Terms: amyotrophic lateral sclerosis, NIPA1, NOP56, NOTCH2NLC, repeats expansion, Cytology, QH573-671

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Relation: https://www.mdpi.com/2073-4409/13/8/677; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/a1839d92063748a1b6a6b45e4f17ed9b

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy

Authors: Masashi Ogasawara, Nobuyuki Eura, Aritoshi Iida, Theerawat Kumutpongpanich, Narihiro Minami, Ikuya Nonaka, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino

Source: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-7 (2022)

Subject Terms: Oculopharyngodistal myopathy, LRP12, GIPC1, NOTCH2NLC, CGG repeat expansion, Oculopharyngeal muscular dystrophy, Neurology. Diseases of the nervous system, RC346-429

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Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/bf430c0312ca4de89b480b931a09d9f1

NOTCH2NLC-related oculopharyngodistal myopathy type 3 complicated with focal segmental glomerular sclerosis: a case report

Authors: Guang Ji, Yuan Zhao, Jian Zhang, Hui Dong, Hongran Wu, Xian Chen, Xiaoming Qi, Yun Tian, Lu Shen, Guofeng Yang, Xueqin Song

Source: BMC Neurology, Vol 22, Iss 1, Pp 1-7 (2022)

Subject Terms: Oculopharyngodistal myopathy (OPDM), NOTCH2NLC, Eosinophilic intranuclear inclusions, Focal segmental glomerular sclerosis (FSGS), GGC repeat expansion, Neurology. Diseases of the nervous system, RC346-429

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Relation: https://doaj.org/toc/1471-2377

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Sporadic adult-onset neuronal intranuclear inclusion disease without high-intensity signal on DWI and T2WI: a case report

Authors: Hongfen Wang, Feng Feng, Jiajin Liu, Jianwen Deng, Jiongming Bai, Wei Zhang, Luning Wang, Baixuan Xu, Xusheng Huang

Source: BMC Neurology, Vol 22, Iss 1, Pp 1-5 (2022)

Subject Terms: Neuronal intranuclear inclusion disease, Diffusion-weighted imaging, NOTCH2NLC gene, Skin biopsy, Case report, Neurology. Diseases of the nervous system, RC346-429

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Relation: https://doaj.org/toc/1471-2377

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Longitudinal course of hyperintensity on diffusion weighted imaging in adult-onset neuronal intranuclear inclusion disease patients

Authors: Dan Liu, Kai Chen, Song Tan, Long-Lin Yin, Mou Li, Yi-Shuang Wang

Source: Frontiers in Neurology, Vol 14 (2023)

Subject Terms: neuronal intranuclear inclusion disease, diffusion weighted imaging, longitudinal changes, leukoencephalopathy, NOTCH2NLC, Neurology. Diseases of the nervous system, RC346-429

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Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1178307/full; https://doaj.org/toc/1664-2295

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Proteomic profile of nuclei containing p62-positive inclusions in a patient with neuronal intranuclear inclusion disease

Authors: Masanori Kurihara, Tatsuo Mano, Fumihiro Eto, Ikuko Yao, Kenichiro Sato, Gaku Ohtomo, Taro Bannai, Shota Shibata, Hiroyuki Ishiura, Masako Ikemura, Tomoyasu Matsubara, Maho Morishima, Yuko Saito, Shigeo Murayama, Tatsushi Toda, Mitsutoshi Setou, Atsushi Iwata

Source: Neurobiology of Disease, Vol 177, Iss , Pp 105989- (2023)

Subject Terms: Neuronal Intranuclear inclusion disease, NOTCH2NLC, Intranuclear inclusion bodies, p62 protein, Flow cytometry, Mass spectrometry, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

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Relation: http://www.sciencedirect.com/science/article/pii/S0969996123000037; https://doaj.org/toc/1095-953X

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A case report of neuronal intranuclear inclusion disease with paroxysmal peripheral neuropathy-like onset lacking typical signs on diffusion-weighted imaging

Authors: Jiayu Fu, Chen Zhao, Guanghao Hou, Xiaoxuan Liu, Mei Zheng, Yingshuang Zhang, Shuo Zhang, Danfeng Zheng, Yixuan Zhang, Xiao Huang, Shan Ye, Dongsheng Fan

Source: Frontiers in Neurology, Vol 14 (2023)

Subject Terms: neuronal intranuclear inclusion disease, peripheral neuropathy, NOTCH2NLC gene, skin biopsy, neurodegenerative disease, Neurology. Diseases of the nervous system, RC346-429

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Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1117243/full; https://doaj.org/toc/1664-2295

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Clinical characteristics of two patients with neuronal intranuclear inclusion disease and literature review

Authors: Bo Zhao, Miao Yang, Zhiwei Wang, Qiqiong Yang, Yimo Zhang, Xiaokun Qi, Shuyi Pan, Yingxin Yu

Source: Frontiers in Neuroscience, Vol 16 (2022)

Subject Terms: neuronal intranuclear inclusion disease, NOTCH2NLC, GGC repeat expansion, neurodegenerative disease, PolyG, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

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Relation: https://www.frontiersin.org/articles/10.3389/fnins.2022.1056261/full; https://doaj.org/toc/1662-453X

Access URL: https://doaj.org/article/c86b13319eb5459db3c79d7ccfdad638

Case report: Two siblings with neuronal intranuclear inclusion disease exhibiting distinct clinicoradiological findings

Authors: Yutao Liu, Li Zeng, Yanpeng Yuan, Yangyang Wang, Kai Chen, Yan Chen, Jiaying Bai, Feng Xiao, Yuming Xu, Jing Yang, Song Tan

Source: Frontiers in Neurology, Vol 13 (2022)

Subject Terms: neuronal intranuclear inclusion disease, mitochondrial encephalopathy, ribbon sign, NOTCH2NLC gene, siblings, Neurology. Diseases of the nervous system, RC346-429

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Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.1013213/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/294682cd0e524d9cad972487ddcdd095