Neurology and Clinical Neuroscience最新文献_第8页

Genetic research of inherited peripheral neuropathies 遗传性周围神经病变的遗传学研究

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Neurology and Clinical Neuroscience Pub Date : 2023-08-06 DOI: 10.1111/ncn3.12770

Y. Higuchi

{"title":"Genetic research of inherited peripheral neuropathies","authors":"Y. Higuchi","doi":"10.1111/ncn3.12770","DOIUrl":"https://doi.org/10.1111/ncn3.12770","url":null,"abstract":"Our department has been conducting genetic research on hereditary neuropathies, with a focus on the Charcot–Marie–Tooth (CMT) disease and other inherited peripheral neuropathies for the past 20 years. The CMT disease is an untreatable disease characterized by progressive muscle weakness, atrophy, and sensory impairment, primarily affecting the peripheral nerves.In our institution, we collected blood samples from patients with the CMT disease, nationwide, and performed comprehensive genetic testing to elucidate its underlying causes.Using next‐generation sequencing (NGS), we successfully discovered two novel causative genes of the CMT disease, membrane metalloendopeptidase (MME), and cytochrome c oxidase assembly factor 7, via whole exome analysis of previously unidentified cases. These findings, combined with the comprehensive analysis enabled by NGS, have significantly improved the diagnostic rate of this disease.Notably, the MME gene has been reported as the most frequent causative gene for autosomal recessive CMT disease, attracting global attention and subsequent research efforts. Accurate genetic diagnosis for each patient serves as a crucial first step toward understanding hereditary diseases. The identification of new causes of the CMT disease can assist in elucidating the molecular mechanisms involved completely, further contributing to the development of effective treatment approaches, including gene therapies.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46547004","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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A case of Epstein–Barr virus infection presenting with facial nerve palsy following the precursor condition of hemophagocytic lymphohistiocytosis 一例Epstein–Barr病毒感染伴面神经麻痹伴噬血细胞性淋巴组织细胞增多症的病例

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Neurology and Clinical Neuroscience Pub Date : 2023-07-25 DOI: 10.1111/ncn3.12769

Yuya Ando, M. Kadoya, M. Yoshioka, Nami Murahara, Hiroko Fujii, Chizuko Takechi, S. Aono

{"title":"A case of Epstein–Barr virus infection presenting with facial nerve palsy following the precursor condition of hemophagocytic lymphohistiocytosis","authors":"Yuya Ando, M. Kadoya, M. Yoshioka, Nami Murahara, Hiroko Fujii, Chizuko Takechi, S. Aono","doi":"10.1111/ncn3.12769","DOIUrl":"https://doi.org/10.1111/ncn3.12769","url":null,"abstract":"A 25‐year‐old man with infectious mononucleosis caused by Epstein–Barr virus infection developed facial nerve palsy. He was admitted to the hospital due to prolonged fever with liver enzyme elevations, diagnosed as primary Epstein–Barr virus infection. During conservative management, his fever and liver dysfunction persisted, with elevated serum inflammatory marker levels, and the precursor state of Epstein–Barr virus‐associated hemophagocytic lymphohistiocytosis was suspected. Although his symptoms and liver dysfunction trended toward amelioration after short‐term prednisolone, left‐sided facial palsy developed acutely. Facial palsy was considered Epstein–Barr virus infection‐related, and he recovered within 1 month following additional steroid therapy. Given the presence of the precursor condition of hemophagocytic lymphohistiocytosis just prior to facial palsy, hypercytokinemia was considered a possible pathogenic mechanism for the facial palsy. In patients with Epstein–Barr virus infection, facial palsy may occur independently of the recovery of other symptoms, and cytokine disturbance may affect its development.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47852011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Staged pallidothalamic tractotomy and pallidotomy for chorea‐acanthocytosis 舞蹈病-棘细胞增多症的分阶段白球丘脑束切开术和白球切开术

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Neurology and Clinical Neuroscience Pub Date : 2023-07-21 DOI: 10.1111/ncn3.12768

Ryo Saito, S. Horisawa, Taku Nonaka, Kilsoo Kim, T. Kawamata, T. Taira

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Man‐in‐the‐barrel syndrome‐like symptoms due to cervical infarction caused by transient hypoperfusion in the ascending cervical artery 颈升动脉短暂性低灌注引起的颈梗死引起的人桶综合征样症状

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Neurology and Clinical Neuroscience Pub Date : 2023-07-11 DOI: 10.1111/ncn3.12766

Yuji Isono, Yuya Kano, Kentaro Yamada, M. Muto, Jien Saito, Noriyuki Matsukawa

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Obesity prevalence factors associated with sympathetic overactivity and hypertension 肥胖流行因素与交感神经过度活跃和高血压有关

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Neurology and Clinical Neuroscience Pub Date : 2023-07-02 DOI: 10.1111/ncn3.12765

Wahid Shah, Imran Ali, Waniya Shahid, Shoaib Muhammad, A. Iqbal, Arshad Mehmood

引用次数: 1

Carotid artery stenting after balloon aortic valvuloplasty in cervical internal carotid artery stenosis associated with severe aortic stenosis: A case report 球囊主动脉瓣成形术后颈动脉支架置入治疗颈颈内动脉狭窄伴严重主动脉狭窄1例

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Neurology and Clinical Neuroscience Pub Date : 2023-06-25 DOI: 10.1111/ncn3.12763

T. Kitabayashi, K. Misaki, T. Kamide, M. Nakada

引用次数: 0

Parry–Romberg syndrome—Still progressing over 20 years of disease course Parry-Romberg综合征-病程持续超过20年

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Neurology and Clinical Neuroscience Pub Date : 2023-06-25 DOI: 10.1111/ncn3.12764

Ashem Thoibisana, B. Mishra, A. Elavarasi, R. Singh, D. Vibha, Shailesh Gaikwad, M. Tripathi

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Lupus myelitis in a patient with a first diagnosis of systemic lupus erythematosus 狼疮脊髓炎患者首次诊断为系统性红斑狼疮

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Neurology and Clinical Neuroscience Pub Date : 2023-06-20 DOI: 10.1111/ncn3.12762

W. Silakun, Praewa Tantisungvarakoon, Sirinart Wisitruangrit, Witoon Mitarnun

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Serum uric acid and Parkinson's disease: A systematic review and meta‐analysis 血清尿酸与帕金森病:一项系统综述和荟萃分析

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Neurology and Clinical Neuroscience Pub Date : 2023-06-09 DOI: 10.1111/ncn3.12761

M. Balabandian, S. Salahi, Behnaz Mahmoudvand, Mahla Esmaeilzadeh, Seyedeh Melika Hashemi, F. Nabizadeh

引用次数: 0

Education on neuromuscular electrodiagnosis and neurological symptomatology 神经肌肉电诊断和神经症状学教育

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Neurology and Clinical Neuroscience Pub Date : 2023-05-31 DOI: 10.1111/ncn3.12759

M. Sonoo

{"title":"Education on neuromuscular electrodiagnosis and neurological symptomatology","authors":"M. Sonoo","doi":"10.1111/ncn3.12759","DOIUrl":"https://doi.org/10.1111/ncn3.12759","url":null,"abstract":"Neurological symptomatology is a crucial component of neurological expertise. The committee for fostering board‐certified neurologists in the Japanese Society of Neurology (JSN) has hosted an educational activity for residents before the board examination, “The seminar for fostering board‐certified neurologists” since 2004. In particular, the autumn seminar has been characterized by small group hands‐on of neurological examinations and the evaluations of higher brain function. Besides this, hands‐on seminar of neurological examinations by regional branches has been promoted by the JSN. In the Kanto Ko‐shin‐etsu branch, “The first hands‐on seminar of neurological examinations” started in 2023 after a 3‐year‐suspension due to COVID‐19. The most important educational activities in neuromuscular electrodiagnosis (EDx) is the “Neuromuscular diagnostics seminar” hosted since 2004 by the Japanese Society of Clinical Neurophysiology (JSCN). The majority of tutors and participants are neurologists. This seminar is also characterized by small‐group, hands‐on workshops. We have also run the overseas seminar, “Tokyo Super EMG hands‐on,” since 2013. These have undoubtedly contributed to enhancing the level of neuromuscular electrodiagnosis not only in Japan but also in other Asian countries. I have conducted studies on neurological symptomatology and neuromuscular electrodiagnosis, which are directly linked to enhancing clinical practice of neurologists through educational activities such as review articles or lectures. Due to the fact that symptomatology is crucial in neurological expertise, neurology is a basic specialty around the world except in Japan. In 2018, the JSN decided to aim to make neurology a basic specialty and continues to make efforts to attain this goal.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46332575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0