Clinical Neuropathology最新文献_第6页

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-11-01 DOI: 10.5414/NP301460

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":"https://doi.org/10.5414/NP301460","url":null,"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.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40410284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Clinical Neuropathology 6-2022. 临床神经病理学6-2022。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-11-01 DOI: 10.5414/NPP41243

Christian Mawrin

引用次数: 0

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-11-01 DOI: 10.5414/NP301480

Chunhui Cao, Haibo Long, Qin Shao

引用次数: 0

Primary central nervous system histiocytic sarcoma with somatic NF2 mutation: Case report and review of literature. 原发性中枢神经系统组织细胞肉瘤伴体细胞NF2突变:1例报告及文献复习。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-11-01 DOI: 10.5414/NP301473

Wenbo Wang, Yunkun Zhang, Yang Dong, Shen Li, Huamin Qin

引用次数: 0

Distal hereditary neuropathy associated with a novel mutation in alanyl-aminoacyl-tRNA synthetase. 远端遗传性神经病与丙烯酰-氨基酰基- trna合成酶的新突变有关。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-11-01 DOI: 10.5414/NP301489

Yuan Yuan, Daojun Hong, Xuguang Gao, Jun Zhang

{"title":"Distal hereditary neuropathy associated with a novel mutation in alanyl-aminoacyl-tRNA synthetase.","authors":"Yuan Yuan, Daojun Hong, Xuguang Gao, Jun Zhang","doi":"10.5414/NP301489","DOIUrl":"https://doi.org/10.5414/NP301489","url":null,"abstract":"To report a new genetic cause of distal hereditary motor neuropathy (dHMN), which is likely associated with worsening during pregnancy. We collected the clinical data of a patient with severe weakness of the lower limbs induced by repeated pregnancy and performed relevant experimental examinations, including neuromuscular electrophysiological examination, neuromuscular biopsy, and genetic testing. The patient reported weakness of the right lower extremity after delivery of the first child. Initially, the right foot was weak during lifting, and symptoms gradually progressed to weakness when landing on the toe during walking. She then developed weakness of the right lower extremity and thinning of the right leg. After an interval of 2.5 years, after delivery of the second child, her left lower extremity developed asthenia, with the same symptoms as previously reported for the right lower extremity. Subsequently, weakness of both lower extremities became progressively worse, and she developed difficulty sitting up, getting out of bed, and walking. Physical examination showed that both upper limb vertebral tracts were damaged and both lower extremity motor nerves were damaged. Electrophysiology suggested motor axonal neurogenic damage. Brain magnetic resonance imaging demonstrated leukodystrophy. Sural nerve biopsy suggested mild axonal damage. Skeletal muscle biopsy suggested neurogenic skeletal muscle damage. Genetic testing suggested that there was a heterozygous mutation at the shear site of the AARS gene. An AARS mutation may cause dHMN associated with pyramidal tract signs.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10382664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Clinical Neuropathology 5-2022. 临床神经病理学5-2022。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-09-01 DOI: 10.5414/NPP41195

Christian Mawrin

引用次数: 0

Clinical Neuropathology 4-2022. 临床神经病理学4-2022。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-06-07 DOI: 10.5414/NPP41151

C. Mawrin

引用次数: 0

Diagnostic DNA methylome profiling and the WHO 5th edition CNS tumor classification. 诊断性DNA甲基组分析和WHO第5版中枢神经系统肿瘤分类。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-06-07 DOI: 10.5414/NP301493

Stephan Frank, J. Hench

引用次数: 0

DNAJB2 c.184C>T mutation associated with distal hereditary motor neuropathy with rimmed vacuolar myopathy. DNAJB2 c.184C>T突变与带边框空泡肌病的远端遗传性运动神经病相关。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-06-02 DOI: 10.5414/NP301466

Meige Liu, Yan Xu, D. Hong, L. Cong, Yangyi Fan, Jun Zhang

引用次数: 1

Clinical phenotype of familial amyotrophic lateral sclerosis with SOD1 gene mutation mimicking proximal myopathy: A case report and literature review. 家族性肌萎缩性侧索硬化症伴SOD1基因突变的临床表型模拟近端肌病:1例报告和文献复习。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-06-02 DOI: 10.5414/NP301459

Jingjing Sun, Chengning Zhang, Lin Wang, H. Bi

{"title":"Clinical phenotype of familial amyotrophic lateral sclerosis with SOD1 gene mutation mimicking proximal myopathy: A case report and literature review.","authors":"Jingjing Sun, Chengning Zhang, Lin Wang, H. Bi","doi":"10.5414/NP301459","DOIUrl":"https://doi.org/10.5414/NP301459","url":null,"abstract":"Amyotrophic lateral sclerosis (ALS) is a disorder with strong clinical and genetic heterogeneity, and its pathogenic mechanism has not been completely clarified. Proximal myopathy is rare in clinical manifestations of ALS. Here, we describe a 34-year-old woman with a 1-year history of symmetrical, proximal limb weakness, and muscle atrophy, with slow progression and no upper motor neuron (UMN) signs. The clinical phenotype was similar to myopathy and was initially misdiagnosed as proximal myopathy. Electromyography (EMG) and muscle and nerve biopsy were performed. The genomic DNA from the patient's peripheral blood lymphocytes was analyzed. The EMG and pathologic examinations revealed chronic neurogenic changes and mild mixed peripheral neuropathy. DNA analysis revealed a heterozygous missense mutation in exon 1 at codon 50 (c.50G>C) of SOD1, and a heterozygous missense mutation in exon 11 at codon 1013 (c.1013G>A) of CPT1C that has not been reported previously. The patient was diagnosed as familial ALS (FALS) type 1, and the patient had a family history of autosomal dominant (AD) pattern. This report expands the knowledge of the clinical phenotype of FALS. For patients with clinical manifestations mimicking proximal myopathy, the possibility of underlying ALS should be considered.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46121015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0