Xu J Chu, Kang Du, Ling C Meng, Zhi Y Xie, Ying Zhu, Wei Zhang, Zhao X Wang, Yun Yuan
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引用次数: 1
摘要
背景和目的:早期生长反应2基因(EGR2)突变与一组遗传性神经病变有关,包括轴索神经病变、低髓鞘神经病变或charco - marie - tooth病(CMT) 1D型。我们的目标是对egr2相关的神经病变进行电诊断、神经成像和组织学研究。材料和方法:我们对我院2例egr2相关神经病学患者进行回顾性分析。神经传导检查证实神经病变。2例患者行神经显像和腓肠活检。结果:两名无亲缘关系的男孩表现出早发性长度依赖性神经病变。下一代测序发现EGR2基因在患者1的第三锌指结构域具有先前描述的E412K突变,在患者2的第一锌指结构域具有先前描述的D355N突变。1例腰骶神经丛磁共振成像未见异常,2例腰骶神经丛增厚。电生理和神经活检显示明显的轴索神经病,并伴有脱髓鞘受累。结论:因此,EGR2突变不仅可能导致已知的脱髓鞘型和轴突型CMT,还可能导致混合型CMT。我们的发现扩大了egr2相关神经病的表型异质性。
EGR2-related mixed demyelinating and axonal Charcot-Marie-Tooth disease: An electrodiagnostic, nerve imaging, and histological study.
Background and aims: The early growth response 2 gene (EGR2) mutations are associated with a group of hereditary neuropathy, including axonal neuropathy and hypomyelinating neuropathy or Charcot-Marie-Tooth disease (CMT) type 1D. We aim to perform an electrodiagnostic, nerve imaging, and histological study of EGR2-associated neuropathy.
Materials and methods: We performed a retrospective analysis of two patients with EGR2-related neurology at our hospital. The neuropathy was confirmed by the nerve conduction study. Nerve imaging and sural biopsies were performed in two patients.
Results: Two unrelated boys exhibited early-onset length-dependent neuropathy. Next generation sequencing identified EGR2 gene with previously described E412K mutation in the third zine finger domain in patient 1 and a previously undescribed variant D355N mutation in the first zinc finger domain in patient 2. The magnetic resonance imaging of the lumbosacral plexus showed no abnormalities in patient 1 and thickened lumbosacral plexuses in patient 2. Electrophysiology and nerve biopsies showed a prominent axonal neuropathy, accompanied with demyelinating involvement.
Conclusion: Therefore, it seemed that the EGR2 mutations could cause not only the known demyelinating type and axonal type but also mixed-type CMT. Our findings expanded the phenotypic heterogeneities of EGR2-associated neuropathy.
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.