神经传导研究对NOTCH2NLC相关神经元核内包涵体疾病的诊断价值。

IF 3.9 3区医学 Q1 CLINICAL NEUROLOGY

Journal of the Peripheral Nervous System Pub Date : 2023-09-25 DOI:10.1111/jns.12599

Yun Tian, Xuan Hou, Wanqian Cao, Lu Zhou, Bin Jiao, Sizhe Zhang, Qiao Xiao, Jin Xue, Ying Wang, Ling Weng, Liangjuan Fang, Honglan Yang, Yafang Zhou, Fang Yi, Xiaoyu Chen, Juan Du, Qian Xu, Li Feng, Zhenhua Liu, Sen Zeng, Qiying Sun, Nina Xie, Mengchuan Luo, Mengli Wang, Mengqi Zhang, Qiuming Zeng, Shunxiang Huang, Lingyan Yao, Yacen Hu, Hongyu Long, Yuanyuan Xie, Si Chen, Qing Huang, Junpu Wang, Bin Xie, Lin Zhou, Lili Long, Jifeng Guo, Junling Wang, Xinxiang Yan, Hong Jiang, Hongwei Xu, Ranhui Duan, Beisha Tang, Ruxu Zhang, Lu Shen

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引用次数: 0

摘要

背景和目的：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患者表现为多发性神经病。在这里，我们的目的是研究NIID的诊断电生理标志物。方法：在这项回顾性双中心研究中，我们回顾了96名NOTCH2NLC相关NIID患者、94名遗传证实的Charcot-Marie Tooth（CMT）疾病患者和62名无周围神经病变史的对照参与者，他们在2018年至2022年间接受了神经传导研究。结果：53.1%的NIID患者出现了周围神经症状，而根据电生理检查，97.9%的患者表现为周围神经病变。NIID患者的特点是轻度脱髓鞘感觉运动性多发性神经病；一些患者还表现出轻微的轴索损伤。正中神经的运动神经传导速度（MCV）通常超过35 m/s，并且被发现与GGC重复大小呈负相关。关于肌无力类型（n = 27）和非肌无力型（n = 69），神经传导异常在涉及脱髓鞘和轴突损伤的肌无力型中更为严重。值得注意的是，只有33.3%的肌无力类型出现了特定的DWI皮质下系带征，因此很难将其与CMT区分开来。结合发病年龄、远端运动潜伏期和正中神经的复合肌肉动作电位，显示出区分NIID和主要CMT的最佳诊断性能（AUC = 0.989，灵敏度 = 92.6%，特异性 = 97.4%）。解释：周围性多发性神经病在NIID中很常见。我们的研究表明，神经传导研究有助于鉴别NIID。

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Diagnostic value of nerve conduction study in NOTCH2NLC-related neuronal intranuclear inclusion disease

Background and Aims

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.

Methods

In this retrospective dual-center study, we reviewed 96 patients with NOTCH2NLC-related NIID, 94 patients with genetically confirmed Charcot–Marie-Tooth (CMT) disease, and 62 control participants without history of peripheral neuropathy, who underwent nerve conduction studies between 2018 and 2022.

Results

Peripheral nerve symptoms were presented by 53.1% of patients with NIID, whereas 97.9% of them showed peripheral neuropathy according to electrophysiological examinations. Patients with NIID were characterized by slight demyelinating sensorimotor polyneuropathy; some patients also showed mild axonal lesions. Motor nerve conduction velocity (MCV) of the median nerve usually exceeded 35 m/s, and were found to be negatively correlated with the GGC repeat sizes. Regarding the electrophysiological differences between muscle weakness type (n = 27) and non-muscle weakness type (n = 69) of NIID, nerve conduction abnormalities were more severe in the muscle weakness type involving both demyelination and axonal impairment. Notably, specific DWI subcortical lace sign was presented in only 33.3% of muscle weakness type, thus it was difficult to differentiate them from CMT. Combining age of onset, distal motor latency, and compound muscle action potential of the median nerve showed the optimal diagnostic performance to distinguish NIID from major CMT (AUC = 0.989, sensitivity = 92.6%, specificity = 97.4%).

Interpretation

Peripheral polyneuropathy is common in NIID. Our study suggest that nerve conduction study is useful to discriminate NIID.

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来源期刊

Journal of the Peripheral Nervous System 医学-临床神经学

CiteScore

6.10

自引率

7.90%

发文量

审稿时长

>12 weeks

期刊介绍： The Journal of the Peripheral Nervous System is the official journal of the Peripheral Nerve Society. Founded in 1996, it is the scientific journal of choice for clinicians, clinical scientists and basic neuroscientists interested in all aspects of biology and clinical research of peripheral nervous system disorders. The Journal of the Peripheral Nervous System is a peer-reviewed journal that publishes high quality articles on cell and molecular biology, genomics, neuropathic pain, clinical research, trials, and unique case reports on inherited and acquired peripheral neuropathies. Original articles are organized according to the topic in one of four specific areas: Mechanisms of Disease, Genetics, Clinical Research, and Clinical Trials. The journal also publishes regular review papers on hot topics and Special Issues on basic, clinical, or assembled research in the field of peripheral nervous system disorders. Authors interested in contributing a review-type article or a Special Issue should contact the Editorial Office to discuss the scope of the proposed article with the Editor-in-Chief.