Diagnostic value of nerve conduction study in NOTCH2NLC-related neuronal intranuclear inclusion disease,Journal of the Peripheral Nervous System

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Diagnostic value of nerve conduction study in NOTCH2NLC-related neuronal intranuclear inclusion disease
Journal of the Peripheral Nervous System ( IF 3.8 ) Pub Date : 2023-09-25 , DOI: 10.1111/jns.12599
Yun Tian _{1,

2,

3} , Xuan Hou ₁ , Wanqian Cao ₄ , Lu Zhou ₁ , Bin Jiao _{1,

3} , Sizhe Zhang ₁ , Qiao Xiao ₅ , Jin Xue ₅ , Ying Wang ₆ , Ling Weng ₁ , Liangjuan Fang ₁ , Honglan Yang ₄ , Yafang Zhou ₂ , Fang Yi ₂ , Xiaoyu Chen ₇ , Juan Du ₁ , Qian Xu ₁ , Li Feng ₁ , Zhenhua Liu ₁ , Sen Zeng ₄ , Qiying Sun ₂ , Nina Xie ₂ , Mengchuan Luo ₂ , Mengli Wang ₄ , Mengqi Zhang ₁ , Qiuming Zeng ₁ , Shunxiang Huang ₄ , Lingyan Yao ₂ , Yacen Hu ₂ , Hongyu Long ₁ , Yuanyuan Xie ₁ , Si Chen ₁ , Qing Huang ₁ , Junpu Wang ₆ , Bin Xie ₆ , Lin Zhou ₂ , Lili Long ₁ , Jifeng Guo _{1,

3,

8,

9,

10} , Junling Wang _{1,

3} , Xinxiang Yan _{1,

3} , Hong Jiang _{1,

3,

8,

10} , Hongwei Xu _{2,

3} , Ranhui Duan ₅ , Beisha Tang _{1,

2,

3,

8,

9,

10} , Ruxu Zhang ₄ , Lu Shen _{1,

3,

8,

9,

10}

Affiliation

Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, China.
National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.
Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
Department of Pathology, Xiangya Hospital, Central South University, Changsha, China.
Department of Neurosurgery, Xiangya Hospital, Central South University, Changsha, China.
Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China.
Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China.
Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.

Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disorder mainly caused by abnormally expanded GGC repeats within the NOTCH2NLC gene. Most patients with NIID show polyneuropathy. Here, we aim to investigate diagnostic electrophysiological markers of NIID.

中文翻译：

神经传导研究对NOTCH2NLC相关神经元核内包涵体病的诊断价值

神经元核内包涵体病 (NIID) 是一种罕见的进行性神经退行性疾病，主要由NOTCH2NLC 基因内 GGC 重复序列异常扩增引起。大多数 NIID 患者表现出多发性神经病。在这里，我们的目标是研究 NIID 的诊断电生理标志物。

更新日期：2023-09-25

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