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[Survey on the involvement of Japanese neurologists in genetic medicine]. [关于日本神经科医生参与遗传医学的调查]。
Clinical Neurology Pub Date : 2026-07-28 Epub Date: 2026-06-18 DOI: 10.5692/clinicalneurol.cn-002237
Yuka Shibata, Hyangri Chang, Shinichiro Yamada, Masaaki Matsushima, Kazumasa Saigoh, Hiroyuki Ishiura, Yoshiki Sekijima, Hirofumi Maruyama, Takeshi Ikeuchi, Kazuko Hasegawa, Masashi Aoki, Masahisa Katsuno, Tatsushi Toda, Ichiro Yabe
{"title":"[Survey on the involvement of Japanese neurologists in genetic medicine].","authors":"Yuka Shibata, Hyangri Chang, Shinichiro Yamada, Masaaki Matsushima, Kazumasa Saigoh, Hiroyuki Ishiura, Yoshiki Sekijima, Hirofumi Maruyama, Takeshi Ikeuchi, Kazuko Hasegawa, Masashi Aoki, Masahisa Katsuno, Tatsushi Toda, Ichiro Yabe","doi":"10.5692/clinicalneurol.cn-002237","DOIUrl":"10.5692/clinicalneurol.cn-002237","url":null,"abstract":"<p><p>With the advancement of genetic medicine, opportunities to perform genetic testing in neurology practice are increasing. To address this trend, we conducted a survey on the involvement of neurologists in genetic medicine. A total of 658 respondents (9.6%) participated, and 94.4% reported experience in performing genetic testing. The increased opportunity to perform genetic testing was attributed to the recent emergence of disease-modifying therapies, which are beneficial for the early diagnosis and treatment of patients, as well as the growing need to consider reproductive options such as prenatal testing and preimplantation genetic testing for monogenic disorders. Educational opportunities aimed at improving the genetic medicine skills of all neurologists are urgently needed.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"450-456"},"PeriodicalIF":0.0,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148273302","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
[A case of anti-Kelch-like protein 11 (KLHL11) antibody-positive opsoclonus-myoclonus syndrome associated with small cell lung cancer that improved after immunotherapy and cancer treatment]. 【抗kelch样蛋白11 （KLHL11）抗体阳性伴小细胞肺癌的虚阵肌阵综合征1例，经免疫治疗和癌症治疗后好转】。
Clinical Neurology Pub Date : 2026-07-28 Epub Date: 2026-06-13 DOI: 10.5692/clinicalneurol.cn-002240
Riho Takai, Marina Saito, Akifumi Mitsuishi, Manami Maruko, Yuki Kujuro, Hidenori Hattori
{"title":"[A case of anti-Kelch-like protein 11 (KLHL11) antibody-positive opsoclonus-myoclonus syndrome associated with small cell lung cancer that improved after immunotherapy and cancer treatment].","authors":"Riho Takai, Marina Saito, Akifumi Mitsuishi, Manami Maruko, Yuki Kujuro, Hidenori Hattori","doi":"10.5692/clinicalneurol.cn-002240","DOIUrl":"10.5692/clinicalneurol.cn-002240","url":null,"abstract":"<p><p>Opsoclonus-myoclonus syndrome (OMS), characterized by symptoms including rapid eye movements, myoclonus, and cerebellar ataxia, is one of the paraneoplastic neurological syndrome. A 68-year-old woman was admitted with oscillopsia, dizziness, and gait disturbance caused by postural tremor. Clinical evaluation led to a diagnosis of Kelch-like protein 11 (KLHL11)-associated paraneoplastic OMS, secondary to small cell lung cancer (cT1cN3M1a, stage 4A). In most cases, the improvement of the neurological symptoms is limited unless the underlying malignancy is effectively treated. Therefore, cancer therapy in combination with immunotherapy is essential, even in patients with poor performance status. Here, we report a case in which both immunotherapy and cancer treatment led to improvement in neurological symptoms associated with KLHL11-related paraneoplastic OMS.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"485-491"},"PeriodicalIF":0.0,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148253951","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
[A case of Takayasu arteritis diagnosed following posterior reversible encephalopathy syndrome]. [后路可逆性脑病综合征后诊断为高须动脉炎1例]。
Clinical Neurology Pub Date : 2026-07-28 Epub Date: 2026-06-18 DOI: 10.5692/clinicalneurol.cn-002228
Ryutaro Otsu, Mai Iwahara, Kohei Miyagawa, Yasuhisa Akaiwa, Toshiki Nakamura, Tomoyuki Miyamoto
{"title":"[A case of Takayasu arteritis diagnosed following posterior reversible encephalopathy syndrome].","authors":"Ryutaro Otsu, Mai Iwahara, Kohei Miyagawa, Yasuhisa Akaiwa, Toshiki Nakamura, Tomoyuki Miyamoto","doi":"10.5692/clinicalneurol.cn-002228","DOIUrl":"10.5692/clinicalneurol.cn-002228","url":null,"abstract":"<p><p>A 53-year-old woman presented with chronic anorexia and gait disturbance. During evaluation at another hospital, brain MRI revealed abnormal high signal intensities in both supratentorial and infratentorial regions, prompting referral and admission to our hospital. On admission, she exhibited non-lateralized hypertension, decreased responsiveness, hypophonia, masked face, bradykinesia, shuffling gait, and hyperreflexia. Blood tests showed mild inflammatory markers. Based on her hypertension and MRI findings, posterior reversible encephalopathy syndrome (PRES) was diagnosed, and antihypertensive therapy was initiated. Her symptoms and imaging findings improved, though some abnormalities persisted. During further evaluation for the cause of hypertension, she contracted COVID-19. Despite recovery, low-grade fever and inflammatory response persisted. Contrast-enhanced CT revealed perivascular enhancement around the aortic arch branches, leading to a diagnosis of Takayasu arteritis. This case highlights PRES as a clinical trigger for the diagnosis of Takayasu arteritis.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"479-484"},"PeriodicalIF":0.0,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148273280","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
[A case of von Hippel-Lindau disease showing characteristic progressive growth of multiple cerebellar hemangioblastomas]. [希佩尔-林道病1例，表现为多发性小脑血管母细胞瘤的特征性进行性生长]。
Clinical Neurology Pub Date : 2026-07-28 Epub Date: 2026-06-13 DOI: 10.5692/clinicalneurol.cn-002230
Hideki Hayashi, Tomohiko Ishihara, Natsumi Saito, Tetsuya Hiraishi, Osamu Onodera
{"title":"[A case of von Hippel-Lindau disease showing characteristic progressive growth of multiple cerebellar hemangioblastomas].","authors":"Hideki Hayashi, Tomohiko Ishihara, Natsumi Saito, Tetsuya Hiraishi, Osamu Onodera","doi":"10.5692/clinicalneurol.cn-002230","DOIUrl":"10.5692/clinicalneurol.cn-002230","url":null,"abstract":"","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"492-493"},"PeriodicalIF":0.0,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148254008","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
[Let's present at a regional meeting]. [让我们出席一个地区性会议]。
Clinical Neurology Pub Date : 2026-06-23 DOI: 10.5692/clinicalneurol.cn-002253
Akiyuki Hiraga
{"title":"[Let's present at a regional meeting].","authors":"Akiyuki Hiraga","doi":"10.5692/clinicalneurol.cn-002253","DOIUrl":"https://doi.org/10.5692/clinicalneurol.cn-002253","url":null,"abstract":"<p><p>For young doctors and students, presenting a case at a regional meeting may be the first step in their academic careers. Such presentations require appropriate case selection, a satisfactory literature search, discussion with a mentor, writing an abstract, making slides, and providing an effective response to the audience's questions. The sequential process from case experience to presentation provides a valuable learning experience for young physicians and students and enhances their clinical abilities. On the day of the meeting, presenters should ensure that the presentation stays strictly within the allotted time and speak without reading from a prepared script. A good presentation requires (i) simple and understandable slides, (ii) a clear \"learning point\" for the audience, and (iii) effective spoken delivery.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148319583","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
[Supporting the health care transition through multidisciplinary collaboration: professional initiatives]. [通过多学科合作支持医疗保健转型：专业举措]。
Clinical Neurology Pub Date : 2026-06-20 Epub Date: 2026-05-22 DOI: 10.5692/clinicalneurol.cn-002234
Yoko Mochizuki, Katsuhisa Ogata, Satoko Kumada, Mami Ueda, Ikumi Fukuda, Tomoko Sekiya, Hiromi Aoki, Ichiro Yabe
{"title":"[Supporting the health care transition through multidisciplinary collaboration: professional initiatives].","authors":"Yoko Mochizuki, Katsuhisa Ogata, Satoko Kumada, Mami Ueda, Ikumi Fukuda, Tomoko Sekiya, Hiromi Aoki, Ichiro Yabe","doi":"10.5692/clinicalneurol.cn-002234","DOIUrl":"10.5692/clinicalneurol.cn-002234","url":null,"abstract":"<p><p>The Japanese Society of Neurology's Committee on Measures for Transition from Pediatric to Adult Health Care held a workshop to discuss the activities of the transitional care initiatives undertaken by various healthcare professionals. The following points were addressed: (1) The Osaka Transitional Care Support Center reported on assistance for patients and families through consultations and pre-transition conferences; (2) The Shikoku Medical Center for Children and Adults introduced a collaborative approach in which transitional support is developed together with children and their families; (3) A staff member with dual qualifications as a certified genetic counselor and a certified intractable disease nurse described transitional care practices at Kanazawa University Hospital; and (4) The Tokyo Metropolitan Transitional Care Support Center presented several programs promoting transitional care, including a \"Support Program for Guardians of Patients with Decision-making Difficulties\" and a \"Chronic Disease Transition App.\" Collectively, these presentations highlighted the importance of advancing transitional care through effective multidisciplinary collaboration.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"384-388"},"PeriodicalIF":0.0,"publicationDate":"2026-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148017868","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
[Two cases of incomplete Fisher syndrome with unilateral ophthalmoplegia as the main symptom]. 【以单侧眼肌麻痹为主要症状的不完全性Fisher综合征2例】。
Clinical Neurology Pub Date : 2026-06-20 Epub Date: 2026-05-15 DOI: 10.5692/clinicalneurol.cn-002204
Ryusei Nonomiya, Masashi Kino, Keita Takaba, Kisaki Tachi, Rie Kawakita, Masaki Kamada
{"title":"[Two cases of incomplete Fisher syndrome with unilateral ophthalmoplegia as the main symptom].","authors":"Ryusei Nonomiya, Masashi Kino, Keita Takaba, Kisaki Tachi, Rie Kawakita, Masaki Kamada","doi":"10.5692/clinicalneurol.cn-002204","DOIUrl":"10.5692/clinicalneurol.cn-002204","url":null,"abstract":"<p><p>Fisher syndrome (FS) is characterized by acute extraocular muscle paralysis, ataxia, and absent tendon reflexes, along with positive anti-GQ1b antibodies. However, incomplete forms of the syndrome, in which only some of the symptoms are present, are known to exist. In this report, we present two cases of incomplete Fisher syndrome with unilateral ocular motor dysfunction. Both patients were positive for anti-GQ1b antibodies and exhibited mild ataxia as the only other neurological symptom, but improved without treatment intervention. This case report highlights the need to recognize that incomplete forms of this syndrome, presenting with unilateral ocular muscle paralysis, exist within the disease spectrum.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"401-404"},"PeriodicalIF":0.0,"publicationDate":"2026-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147964756","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
[A case report of cardioembolic stroke following a successful Maze procedure and Surgical left atrial appendage occlusion for atrial fibrillation]. [心房颤动成功迷宫手术和左心房附件手术后心脏栓塞性卒中1例报告]。
Clinical Neurology Pub Date : 2026-06-20 Epub Date: 2026-05-15 DOI: 10.5692/clinicalneurol.cn-002222
Yu Yokosuka, Takehiro Katano, Toshiyuki Hayashi, Ryutaro Kimura, Yuki Sakamoto, Satoshi Suda
{"title":"[A case report of cardioembolic stroke following a successful Maze procedure and Surgical left atrial appendage occlusion for atrial fibrillation].","authors":"Yu Yokosuka, Takehiro Katano, Toshiyuki Hayashi, Ryutaro Kimura, Yuki Sakamoto, Satoshi Suda","doi":"10.5692/clinicalneurol.cn-002222","DOIUrl":"10.5692/clinicalneurol.cn-002222","url":null,"abstract":"<p><p>A 75-year-old woman presented with dysarthria and sensory deficit of the left upper and lower limbs. Brain MRI findings revealed a cerebral infarction in the right middle cerebral artery territory. One year prior to admission, she underwent a Maze procedure and surgical left atrial appendage closure to treat her atrial fibrillation, which restored her sinus rhythm. Consequently, she discontinued anticoagulant therapy two months before admission. However, transesophageal echocardiography revealed a left atrial thrombus, which was considered the cause of the cerebral infarction. Treatment with oral anticoagulants was initiated, and the left atrial thrombus resolved. There was no recurrence of cerebral infarction. Since left atrial thrombus formation can occur even after surgical treatment for atrial fibrillation, careful follow-up is required.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"405-408"},"PeriodicalIF":0.0,"publicationDate":"2026-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147964749","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
[Community-associated methicillin-resistant Staphylococcus aureus sepsis presenting with encephalopathy-like symptoms in a previously healthy young adult]. [社区相关性耐甲氧西林金黄色葡萄球菌败血症在先前健康的年轻成人中表现为脑病样症状]。
Clinical Neurology Pub Date : 2026-06-20 Epub Date: 2026-05-15 DOI: 10.5692/clinicalneurol.cn-002238
Yuji Hattori, Akira Taniguchi, Ryuichi Inoue, Kazuto Kobayashi, Yutaka Naito, Masayoshi Yamasaki
{"title":"[Community-associated methicillin-resistant Staphylococcus aureus sepsis presenting with encephalopathy-like symptoms in a previously healthy young adult].","authors":"Yuji Hattori, Akira Taniguchi, Ryuichi Inoue, Kazuto Kobayashi, Yutaka Naito, Masayoshi Yamasaki","doi":"10.5692/clinicalneurol.cn-002238","DOIUrl":"10.5692/clinicalneurol.cn-002238","url":null,"abstract":"<p><p>A 32-year-old previously healthy man developed abnormal behavior two days after the onset of fever. He had experienced epistaxis during consecutive work days prior to the onset. While clinical findings suggested encephalitis, blood cultures yielded methicillin-resistant Staphylococcus aureus (MRSA). No obvious local infectious foci were identified in the skin or soft tissues; however, brain MRI revealed multiple embolic-like lesions. The MRSA strain produced markedly elevated toxic shock syndrome toxin-1 (TSST-1), suggesting a toxic shock syndrome-like state. Although initial empirical therapy did not cover MRSA, targeted anti-MRSA agents were started following its identification. Assuming an occult infectious focus, intravenous anti-MRSA therapy was continued for 6 weeks after blood cultures converted to negative. He was discharged on hospital day 54 without neurological sequelae. Community-associated MRSA can cause severe sepsis even in young individuals, and encephalopathy may be the initial presentation. Clinicians should consider MRSA sepsis in the differential diagnosis of patients presenting with encephalitis-like symptoms. In this case, the preceding epistaxis suggested that nasal colonization served as the portal of entry.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"416-419"},"PeriodicalIF":0.0,"publicationDate":"2026-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147964763","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
[Beta-propeller protein-associated neurodegeneration (BPAN) associated with heper-CKemia-case report]. [β -螺旋桨蛋白相关神经退行性变（BPAN）与高血压-肾病病例报告]。
Clinical Neurology Pub Date : 2026-06-20 Epub Date: 2026-05-22 DOI: 10.5692/clinicalneurol.cn-002147
Tomoko Sugiyama, Mizuki Matsumoto, Shinya Okuda, Marina Mizobe, Kazuhiro Muramatsu, Masaru Matsui
{"title":"[Beta-propeller protein-associated neurodegeneration (BPAN) associated with heper-CKemia-case report].","authors":"Tomoko Sugiyama, Mizuki Matsumoto, Shinya Okuda, Marina Mizobe, Kazuhiro Muramatsu, Masaru Matsui","doi":"10.5692/clinicalneurol.cn-002147","DOIUrl":"10.5692/clinicalneurol.cn-002147","url":null,"abstract":"<p><p>Beta-propeller protein-associated neurodegeneration (BPAN) is a neurodegeneration with brain iron accumulation (NBIA) disorder caused by autophagy abnormalities. Clinical features of BPAN include global developmental delay in early childhood, followed by progression of cognitive dysfunction and parkinsonism in adulthood. A 32-year-old woman diagnosed with BPAN and confirmed by genetic analysis showed motor symptoms that rapidly progressed after the age of 30 years. Baclofen was administered for spasticity, though a high fever and elevated serum CK level were observed, and the symptoms persisted for several months even after stopping the drug. It was suspected that rhabdomyolysis have been due to muscle tissue fragility associated with autophagy impairment in BPAN, in combination with increased muscle tone.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"389-394"},"PeriodicalIF":0.0,"publicationDate":"2026-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148017876","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
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