Xu J Chu, Kang Du, Ling C Meng, Zhi Y Xie, Ying Zhu, Wei Zhang, Zhao X Wang, Yun Yuan
{"title":"EGR2-related mixed demyelinating and axonal Charcot-Marie-Tooth disease: An electrodiagnostic, nerve imaging, and histological study.","authors":"Xu J Chu, Kang Du, Ling C Meng, Zhi Y Xie, Ying Zhu, Wei Zhang, Zhao X Wang, Yun Yuan","doi":"10.5414/NP301460","DOIUrl":null,"url":null,"abstract":"<p><strong>Background and aims: </strong>The early growth response 2 gene <i>(EGR2)</i> 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.</p><p><strong>Materials and methods: </strong>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.</p><p><strong>Results: </strong>Two unrelated boys exhibited early-onset length-dependent neuropathy. Next generation sequencing identified <i>EGR2</i> 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.</p><p><strong>Conclusion: </strong>Therefore, it seemed that the <i>EGR2</i> 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.</p>","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":0.8000,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Neuropathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5414/NP301460","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: 1
Abstract
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.