{"title":"Target sign as a diagnostic clue for spinal tuberculoma","authors":"Witoon Mitarnun, Panmile Tawornwong","doi":"10.1111/ncn3.12774","DOIUrl":"https://doi.org/10.1111/ncn3.12774","url":null,"abstract":"","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":"5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135981484","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}
Ryoichi Inoue, T. Shindo, S. Koyasu, Hiromi Hayashi, Y. Nakamoto, A. Takaori-Kondo
{"title":"18F‐FDG‐PET/MRI of the mandible for numb chin syndrome due to acute myeloid leukemia","authors":"Ryoichi Inoue, T. Shindo, S. Koyasu, Hiromi Hayashi, Y. Nakamoto, A. Takaori-Kondo","doi":"10.1111/ncn3.12772","DOIUrl":"https://doi.org/10.1111/ncn3.12772","url":null,"abstract":"","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2023-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48427559","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}
Spinal segmental myoclonus is rhythmic or semirhythmic involuntary contractions of muscle groups supplied by one or several contiguous segments of the brainstem and/or spinal cord evident with surface electromyographic (EMG) discharges. The clinical spectrum of contactin‐associated protein‐2 (CASPR2) autoantibody‐associated disorders is more diverse and reports on unusual, sometimes isolated, and immunotherapy‐responsive movement disorders in CASPR2 autoantibody‐associated syndromes have been described. We describe a rare case of spinal segmental myoclonus associated with CASPR2 antibody.
{"title":"Spinal segmental myoclonus associated with CASPR2 antibody confounded by tethered cord","authors":"B. Sharma, Ashish Gupta, Hovale Bheemrao Harish","doi":"10.1111/ncn3.12771","DOIUrl":"https://doi.org/10.1111/ncn3.12771","url":null,"abstract":"Spinal segmental myoclonus is rhythmic or semirhythmic involuntary contractions of muscle groups supplied by one or several contiguous segments of the brainstem and/or spinal cord evident with surface electromyographic (EMG) discharges. The clinical spectrum of contactin‐associated protein‐2 (CASPR2) autoantibody‐associated disorders is more diverse and reports on unusual, sometimes isolated, and immunotherapy‐responsive movement disorders in CASPR2 autoantibody‐associated syndromes have been described. We describe a rare case of spinal segmental myoclonus associated with CASPR2 antibody.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2023-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42189418","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}
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.
{"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":" ","pages":""},"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}
Yuya Ando, M. Kadoya, M. Yoshioka, Nami Murahara, Hiroko Fujii, Chizuko Takechi, S. Aono
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.
{"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":" ","pages":""},"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}
Ryo Saito, S. Horisawa, Taku Nonaka, Kilsoo Kim, T. Kawamata, T. Taira
Chorea‐acanthocytosis (ChAc) is a progressive degenerative disease, which manifests movement disorders including chorea and dystonia. Deep brain stimulation has been reported to successfully improve chorea and dystonia in ChAc. However, there are no reports of lesioning surgery for ChAc. The patient was a 47‐year‐old female with a mutation in VPS13A, which led to the diagnosis of ChAc, presenting with chorea in bilateral hands. The Unified Huntington's Disease Rating Scale‐Motor Score (UHDRS‐MS) was 51. The patient underwent staged bilateral pallidothalamic tractotomy and pallidotomy, which resulted in 60.8% improvement of UHDRS‐MS (20 at 3‐month postoperative evaluation). There was no perioperative complication. No chorea recurrence was observed during the 2‐year postoperative follow‐up period.
{"title":"Staged pallidothalamic tractotomy and pallidotomy for chorea‐acanthocytosis","authors":"Ryo Saito, S. Horisawa, Taku Nonaka, Kilsoo Kim, T. Kawamata, T. Taira","doi":"10.1111/ncn3.12768","DOIUrl":"https://doi.org/10.1111/ncn3.12768","url":null,"abstract":"Chorea‐acanthocytosis (ChAc) is a progressive degenerative disease, which manifests movement disorders including chorea and dystonia. Deep brain stimulation has been reported to successfully improve chorea and dystonia in ChAc. However, there are no reports of lesioning surgery for ChAc. The patient was a 47‐year‐old female with a mutation in VPS13A, which led to the diagnosis of ChAc, presenting with chorea in bilateral hands. The Unified Huntington's Disease Rating Scale‐Motor Score (UHDRS‐MS) was 51. The patient underwent staged bilateral pallidothalamic tractotomy and pallidotomy, which resulted in 60.8% improvement of UHDRS‐MS (20 at 3‐month postoperative evaluation). There was no perioperative complication. No chorea recurrence was observed during the 2‐year postoperative follow‐up period.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42813913","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}
Man‐in‐the‐barrel syndrome (MIBS) is characterized by weakness in the bilateral upper‐extremity muscles with relatively preserved strength in the face and lower‐extremity muscles. We present a case of MIBS‐like symptoms due to spinal cord infarction caused by transient hypoperfusion in the left ascending cervical artery (ACA) secondary to Stanford type A acute aortic dissection. To identify the ACA as the responsible artery, ischemic change by MRI of the longus colli muscle, which is primarily supplied by the ACA, was effective.
{"title":"Man‐in‐the‐barrel syndrome‐like symptoms due to cervical infarction caused by transient hypoperfusion in the ascending cervical artery","authors":"Yuji Isono, Yuya Kano, Kentaro Yamada, M. Muto, Jien Saito, Noriyuki Matsukawa","doi":"10.1111/ncn3.12766","DOIUrl":"https://doi.org/10.1111/ncn3.12766","url":null,"abstract":"Man‐in‐the‐barrel syndrome (MIBS) is characterized by weakness in the bilateral upper‐extremity muscles with relatively preserved strength in the face and lower‐extremity muscles. We present a case of MIBS‐like symptoms due to spinal cord infarction caused by transient hypoperfusion in the left ascending cervical artery (ACA) secondary to Stanford type A acute aortic dissection. To identify the ACA as the responsible artery, ischemic change by MRI of the longus colli muscle, which is primarily supplied by the ACA, was effective.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2023-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47029617","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}
Obesity is the most significant worldwide public health problem and is integrally related to negative cardiovascular disease and hypertension results. The association between obesity and overweight elevated blood pressure is well known, and so it is calculated that 65%–78% of primary hypertension cases are accounted for by obesity.
{"title":"Obesity prevalence factors associated with sympathetic overactivity and hypertension","authors":"Wahid Shah, Imran Ali, Waniya Shahid, Shoaib Muhammad, A. Iqbal, Arshad Mehmood","doi":"10.1111/ncn3.12765","DOIUrl":"https://doi.org/10.1111/ncn3.12765","url":null,"abstract":"Obesity is the most significant worldwide public health problem and is integrally related to negative cardiovascular disease and hypertension results. The association between obesity and overweight elevated blood pressure is well known, and so it is calculated that 65%–78% of primary hypertension cases are accounted for by obesity.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48230659","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}
Carotid artery stenting (CAS) is contraindicated in patients with severe aortic stenosis (AS). However, it is required for treating those with symptomatic internal CA (ICA) stenosis and severe AS. This is the first report of successful CAS after balloon aortic valvuloplasty (BAV) in a patient having ICA stenosis accompanied with severe AS. An 82‐year‐old man with a history of severe AS presented with amaurosis fugax due to severe stenosis at the left ICA. We performed CAS just after BAV. No perioperative complications were reported. It might be a useful treatment strategy for symptomatic ICA stenosis with severe AS.
{"title":"Carotid artery stenting after balloon aortic valvuloplasty in cervical internal carotid artery stenosis associated with severe aortic stenosis: A case report","authors":"T. Kitabayashi, K. Misaki, T. Kamide, M. Nakada","doi":"10.1111/ncn3.12763","DOIUrl":"https://doi.org/10.1111/ncn3.12763","url":null,"abstract":"Carotid artery stenting (CAS) is contraindicated in patients with severe aortic stenosis (AS). However, it is required for treating those with symptomatic internal CA (ICA) stenosis and severe AS. This is the first report of successful CAS after balloon aortic valvuloplasty (BAV) in a patient having ICA stenosis accompanied with severe AS. An 82‐year‐old man with a history of severe AS presented with amaurosis fugax due to severe stenosis at the left ICA. We performed CAS just after BAV. No perioperative complications were reported. It might be a useful treatment strategy for symptomatic ICA stenosis with severe AS.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2023-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41658074","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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