Journal of Clinical Neurology最新文献

{"title":"Novel Presentation of McLeod Syndrome With Muscle Weakness and Biopsy Findings Indicative of Mitochondrial Dysfunction.","authors":"Zhihong Xu, Ying Zhao, YuYing Zhao, Chuanzhu Yan, Kunqian Ji","doi":"10.3988/jcn.2023.0253","DOIUrl":"10.3988/jcn.2023.0253","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 2","pages":"150-152"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11896745/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating Rituximab Failure Rates in Neuromyelitis Optica Spectrum Disorder: A Nationwide Real-World Study From South Korea.","authors":"Su-Hyun Kim, Ju-Hong Min, Sung-Min Kim, Eun-Jae Lee, Young-Min Lim, Ha Young Shin, Young Nam Kwon, Eunhee Sohn, Sooyoung Kim, Min Su Park, Tai-Seung Nam, Byeol-A Yoon, Jong Kuk Kim, Kyong Jin Shin, Yoo Hwan Kim, Jin Myoung Seok, Jeong Bin Bong, Sohyeon Kim, Hung Youl Seok, Sun-Young Oh, Ohyun Kwon, Sunyoung Kim, Sukyoon Lee, Nam-Hee Kim, Eun Bin Cho, Sa-Yoon Kang, Seong-Il Oh, Jong Seok Bae, Suk-Won Ahn, Ki Hoon Kim, You-Ri Kang, Woohee Ju, Seung Ho Choo, Yeon Hak Chung, Jae-Won Hyun, Ho Jin Kim","doi":"10.3988/jcn.2024.0485","DOIUrl":"10.3988/jcn.2024.0485","url":null,"abstract":"<p><strong>Background and purpose: </strong>Treatments for neuromyelitis optica spectrum disorder (NMOSD) such as eculizumab, ravulizumab, satralizumab, and inebilizumab have significantly advanced relapse prevention, but they remain expensive. Rituximab is an off-label yet popular alternative that offers a cost-effective solution, but its real-world efficacy needs better quantification for guiding the application of newer approved NMOSD treatments (ANTs). This study aimed to determine real-world rituximab failure rates to anticipate the demand for ANTs and aid in resource allocation.</p><p><strong>Methods: </strong>We conducted a nationwide retrospective study involving 605 aquaporin-4-antibody-positive NMOSD patients from 22 centers in South Korea that assessed the efficacy and safety of rituximab over a median follow-up of 47 months.</p><p><strong>Results: </strong>The 605 patients treated with rituximab included 525 (87%) who received continuous therapy throughout the follow-up period (median=47 months, interquartile range=15-87 months). During this period, 117 patients (19%) experienced at least 1 relapse. Notably, 68 of these patients (11% of the total cohort) experienced multiple relapses or at least 1 severe relapse. Additionally, 2% of the patients discontinued rituximab due to adverse events, which included severe infusion reactions, neutropenia, and infections.</p><p><strong>Conclusions: </strong>This study has confirmed the efficacy of rituximab in treating NMOSD, as evidenced by an 87% continuation rate among patients over a 4-year follow-up period. Nevertheless, the occurrence of at least one relapse in 19% of the cohort, including 11% who experienced multiple or severe relapses, and a 2% discontinuation rate due to adverse events highlight the urgent need for alternative therapeutic options.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 2","pages":"131-136"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11896746/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Digital Healthcare in Future Medicine: From Research to Clinical Practice in Neurology.","authors":"Jung Bin Kim, Byung-Jo Kim","doi":"10.3988/jcn.2025.0044","DOIUrl":"10.3988/jcn.2025.0044","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 2","pages":"93-94"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11896749/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597201","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Significant miRNAs as Potential Biomarkers to Differentiate Moyamoya Disease From Intracranial Atherosclerotic Disease.","authors":"Hyesun Lee, Mina Hwang, Hyuk Sung Kwon, Young Seo Kim, Hyun Young Kim, Soo Jeong, Kyung Chul Noh, Hye-Yeon Choi, Ho Geol Woo, Sung Hyuk Heo, Seong-Ho Koh, Dae-Il Chang","doi":"10.3988/jcn.2024.0351","DOIUrl":"10.3988/jcn.2024.0351","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 2","pages":"146-149"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11896741/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genome-Wide Association Study Identifying a Novel Gene Related to a History of Febrile Convulsions in Patients With Focal Epilepsy.","authors":"Joonho Kim, Hye Jeong Lee, Hyung Jun Park, Ji Hyun Lee, Won-Joo Kim","doi":"10.3988/jcn.2024.0296","DOIUrl":"10.3988/jcn.2024.0296","url":null,"abstract":"<p><strong>Background and purpose: </strong>The risk factors for developing epilepsy following febrile convulsion (FC) have been studied extensively, but the underlying genetic components remain largely unexplored. Our objective here was to identify the risk loci related to FC through a genome-wide association study of Korean epilepsy patients.</p><p><strong>Methods: </strong>We examined associations between a history of FC and single-nucleotide polymorphisms (SNPs) in data obtained from 125 patients with focal epilepsy: 28 with an FC history and 97 without an FC history.</p><p><strong>Results: </strong>Among 288,394 SNPs, 5 candidate SNPs showed <i>p</i><1×10⁻⁴. Regional association plots of these SNPs identified a novel locus adjacent to <i>PROX1</i> that is implicated in hippocampal neurogenesis and epileptogenesis. The allele frequencies of the SNPs upstream of <i>PROX1</i> including two candidate SNPs (rs1159179 and rs7554295 on chromosome 1) differed significantly between the groups with and without an FC history. In contrast, the allele frequencies of the SNPs inside <i>PROX1</i> showed no differences, indicating dysregulated expression of <i>PROX1</i> rather than a functional alteration in the PROX1 protein.</p><p><strong>Conclusions: </strong>This novel discovery of SNPs upstream of <i>PROX1</i> suggests that the dysregulated expression of <i>PROX1</i> contributes to the development of focal epilepsy following FC. We propose that these SNPs are potential genetic markers for focal epilepsy following FC, and that <i>PROX1</i> represents a potential therapeutic target of antiseizure medications.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 2","pages":"123-130"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11896740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vision Loss in Neurocysticercosis: A Systematic Review of Case Reports and Series.","authors":"Ravindra Kumar Garg, Pragati Garg, Vimal Kumar Paliwal, Shweta Pandey","doi":"10.3988/jcn.2024.0565","DOIUrl":"10.3988/jcn.2024.0565","url":null,"abstract":"<p><strong>Background and purpose: </strong>Neurocysticercosis is a parasitic infection caused by <i>Taenia solium</i> larvae that leads to various neurological symptoms, including vision loss. This systematic review analyzed cases of vision loss associated with neurocysticercosis to assess its etiology and vision outcomes.</p><p><strong>Methods: </strong>Following PRISMA guidelines, the review included reports on human subjects with vision loss due to neurocysticercosis and is registered with PROSPERO (CRD42024556278). The PubMed, Scopus, Embase, and Google Scholar databases were searched.</p><p><strong>Results: </strong>This review included 149 records from 176 patients with a mean age of 27.5 years, comprising 40.3% females, 59.1% males, and 0.6% subjects of unknown sex. Most cases were from Asia, predominantly India. The illness duration varied, but was mostly between 1 and 6 months. In addition to vision loss, common symptoms were headache or orbital pain (30.7%), seizures (12.5%), and altered consciousness (5.7%). Vision loss was mainly unilateral (72.7%). Imaging abnormalities included multiple cystic brain lesions (16.5%), enhanced lesions (4.0%), and calcified lesions (2.3%). Intravitreal and retinal regions were most affected (52.3%), followed by the anterior chamber (6.2%), orbital apex (5.1%), and optic nerve (6.2%). Anticysticercal drugs were the primary treatment, with 57.4% of cases showing improvement. Surgical excision was performed in 40.9% of cases with intravitreal or retinal cysts.</p><p><strong>Conclusions: </strong>Vision loss in neurocysticercosis is mainly due to intravitreal and retinal involvement, and is frequently associated with multiple cystic brain lesions. Anticysticercal drugs can produce improvements, though surgical intervention is often needed for intravitreal or retinal cysts. Most of the patients in this review improved, though severe outcomes such as eye loss were reported.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 2","pages":"137-145"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11896748/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Profiling of Anti-Signal-Recognition Particle Antibodies and Clinical Characteristics in South Korean Patients With Immune-Mediated Necrotizing Myopathy.","authors":"Soo-Hyun Kim, Yunjung Choi, Eun Kyoung Oh, Ichizo Nishino, Shigeaki Suzuki, Bum Chun Suh, Ha Young Shin, Seung Woo Kim, Byeol-A Yoon, Seong-Il Oh, Yoo Hwan Kim, Hyunjin Kim, Young-Min Lim, Seol-Hee Baek, Je-Young Shin, Hung Youl Seok, Seung-Ah Lee, Young-Chul Choi, Hyung Jun Park","doi":"10.3988/jcn.2024.0333","DOIUrl":"10.3988/jcn.2024.0333","url":null,"abstract":"<p><strong>Background and purpose: </strong>This study evaluated the diagnostic utility of an anti-signal-recognition particle 54 (anti-SRP54) antibody-based enzyme-linked immunosorbent assay (ELISA) as well as the clinical, serological, and pathological characteristics of patients with SRP immune-mediated necrotizing myopathy (IMNM).</p><p><strong>Methods: </strong>We evaluated 87 patients with idiopathic inflammatory myopathy and 107 healthy participants between January 2002 and December 2023. The sensitivity and specificity of the ELISA for anti-SRP54 antibodies were assessed, and the clinical profiles of patients with anti-SRP54 antibodies were determined.</p><p><strong>Results: </strong>The ELISA for anti-SRP54 antibodies had a sensitivity and specificity of 88% and 99%, respectively, along with a test-retest reliability of 0.92 (<i>p</i><0.001). The 32 patients diagnosed with anti-SRP IMNM using a line-blot immunoassay included 28 (88%) who tested positive for anti-SRP54 antibodies using the ELISA, comprising 12 (43%) males and 16 (57%) females whose median ages at symptom onset and diagnosis were 43.0 years and 43.5 years, respectively. Symptoms included proximal muscle weakness in all 28 (100%) patients, neck weakness in 9 (32%), myalgia in 15 (54%), dysphagia in 5 (18%), dyspnea in 4 (14%), dysarthria in 2 (7%), interstitial lung disease in 2 (7%), and myocarditis in 2 (7%). The median serum creatine kinase (CK) level was 7,261 U/L (interquartile range: 5,086-10,007 U/L), and the median anti-SRP54 antibody level was 2.0 U/mL (interquartile range: 1.0-5.6 U/mL). The serum CK level was significantly higher in patients with coexisting anti-Ro-52 antibodies.</p><p><strong>Conclusions: </strong>This study has confirmed the reliability of the ELISA for anti-SRP54 antibodies and provided insights into the clinical, serological, and pathological characteristics of South Korean patients with anti-SRP IMNM.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 1","pages":"31-39"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11711272/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Monoclonal Antibodies-A New Horizon in Alzheimer's Treatment.","authors":"Hyuk Sung Kwon, Seong-Ho Koh","doi":"10.3988/jcn.2024.0527","DOIUrl":"10.3988/jcn.2024.0527","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 1","pages":"1-2"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11711262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949628","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cogan Syndrome in a Patient With Melanoma Treated With Targeted Chemotherapy.","authors":"Ji-Hyung Park, Jeong-Yoon Choi, Yu Jung Kim, Ji-Soo Kim","doi":"10.3988/jcn.2024.0387","DOIUrl":"10.3988/jcn.2024.0387","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 1","pages":"89-91"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11711265/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Concurrence of Subacute Combined Degeneration and Deep Vein Thrombosis After Chronic Nitrous Oxide Abuse.","authors":"Jungyun Seo, Do Jung Kim, In Soo Joo, Je Hong Min","doi":"10.3988/jcn.2024.0319","DOIUrl":"10.3988/jcn.2024.0319","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 1","pages":"80-82"},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11711264/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}