Journal of Clinical Neurology最新文献

{"title":"Ipsilateral Pseudochoreoathetosis and Numbness Can Be a Sole Manifestation of Lateral Medullary Infarction.","authors":"Sunjun Kim, Jong Seok Bae, Seoyeon Lee, Hyelim Choi","doi":"10.3988/jcn.2025.0660","DOIUrl":"10.3988/jcn.2025.0660","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"22 2","pages":"229-231"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12956461/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147348351","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":"Progressive Multifocal Leukoencephalopathy in a Patient With Miliary Tuberculosis: Differential Diagnosis From Tuberculoma.","authors":"Jong-Gyu Baek, Hee Jung Kwon, Hyun Min Chae, Doo Hyuk Kwon","doi":"10.3988/jcn.2025.0566","DOIUrl":"10.3988/jcn.2025.0566","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"22 2","pages":"252-254"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12956443/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147348361","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":"Whole-Exome Sequencing Improves Risk Assessments of Adult Moyamoya Disease.","authors":"Eun Pyo Hong, Eun Jin Ha, Dong Hyuk Youn, Yuwhan Chung, Kang Min Kim, Sung Ho Lee, Won-Sang Cho, Hyun-Seung Kang, Jin Pyeong Jeon, Jeong Eun Kim","doi":"10.3988/jcn.2025.0482","DOIUrl":"10.3988/jcn.2025.0482","url":null,"abstract":"<p><strong>Background and purpose: </strong>Whole-exome sequencing (WES) is a valuable tool for identifying causative mutations in adult moyamoya disease (MMD), thereby advancing our understanding of the genetic mechanisms underlying this condition. Here, we conducted the first WES-based association study aimed at identifying genetic modifiers implicated in MMD.</p><p><strong>Methods: </strong>This WES study involved 160 patients with MMD and 189 controls from a multicenter hospital-based biobank, and evaluated combined annotation-dependent depletion (CADD) scores. Mutant-allele frequencies were compared in 369,121 individuals derived from the UK Biobank (UKB) WES. Mutant-allele risk scores (MARSs) were created based on WES-identified mutations. Gene-based association analyses and pooled analyses in East-Asian populations were further performed.</p><p><strong>Results: </strong>Fourteen mutations reached the genome-wide significance criterion (<i>p</i><5×10⁻⁸), among which the p.R4810K mutation in the ring finger protein 213 gene (<i>RNF213</i>) showed the strongest significance (odds ratio=117.4, <i>p</i>=8.54×10⁻²⁴). Notably, two mutations-p.G576S (alpha-glucosidase [<i>GAA</i>]) and p.D54N (charged multivesicular body protein 6 [<i>CHMP6</i>])-exhibited high CADD scores of 32 and 25, respectively, whereas the <i>RNF213</i> p.R4810K mutation demonstrated a moderate deleteriousness score of 10.63. Fourteen mutations exhibited significant differences in allele frequencies between patients and UKB controlled data (<i>p</i><1×10⁻⁸). The MARS9 model (incorporating nine missense mutations) showed better predictability for MMD (90.89%). The analysis of gene-based associations revealed four candidate genes: <i>GAA</i>, <i>RNF213</i>, <i>CHMP6</i>, and <i>CARD14</i> (<i>p</i>=5×10⁻¹⁹ to 4×10⁻⁷). The subsequent pooled analyses validated four mutations in East Asian populations: p.V1195M, p.D1331G, p.S2334N, and p.R4810K (<i>p</i><3×10⁻⁸).</p><p><strong>Conclusions: </strong>This pioneering study has corroborated the significance of p.R4810K and identified several causative mutations predisposing patients to MMD, which helps to improve the understanding of its polygenetic nature.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"22 2","pages":"160-172"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12956456/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147348460","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":"Divergent Propagation Networks Define Two Pathophysiologically Distinct Electroclinical Phenotypes in Mesial Temporal Lobe Epilepsy.","authors":"Heewon Bae, Dae Won Seo, Seung Bong Hong, Hea Ree Park, Young-Min Shon","doi":"10.3988/jcn.2025.0473","DOIUrl":"10.3988/jcn.2025.0473","url":null,"abstract":"<p><strong>Background and purpose: </strong>Temporal dissociation between electrographic and clinical seizure onset in mesial temporal lobe epilepsy (MTLE) implies network heterogeneity. We hypothesized that MTLE consists of distinct electroclinical phenotypes defined by divergent seizure propagation dynamics.</p><p><strong>Methods: </strong>We retrospectively analyzed 167 seizures from 13 patients with drug-resistant MTLE who achieved Engel Class I surgical outcomes. Based on the predominant relationship between scalp electroencephalography (EEG) and clinical onset, patients were classified as EEG-first (<i>n</i>=7) or Clinical-first (<i>n</i>=6). Seizure onset patterns, propagation pathways, and temporal dynamics were assessed using scalp and stereoelectroencephalography (SEEG).</p><p><strong>Results: </strong>The cohort included 83 scalp and 84 SEEG seizures. By definition, onset order differed: in EEG-first seizures, scalp changes preceded clinical signs in 70.5%, whereas the reverse occurred in 65.8% of Clinical-first seizures (<i>p</i><0.001). EEG-first seizures demonstrated longer SEEG-to-clinical latency (28.8±7.7 s vs. 13.0±7.7 s; <i>p</i>=0.004) and rhythmic theta onset on scalp EEG with focal SEEG low-voltage fast activity or preictal spikes. In contrast, Clinical-first seizures showed heterogeneous scalp patterns (theta, delta-theta, or delta slowing). Propagation tended to differ, with anterior pathways more common in EEG-first (69.6%) and posterior pathways in Clinical-first (26.3%), though with partial overlap (<i>p</i>=0.138).</p><p><strong>Conclusions: </strong>MTLE comprises two pathophysiologically distinct phenotypes: EEG-first, reflecting a slowly propagating anterior mesial network, and Clinical-first, involving a rapidly spreading posterior network. This classification offers a mechanistic framework for understanding electroclinical dissociation and may refine presurgical evaluation.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"22 2","pages":"203-211"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12956459/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147348386","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":"Effect of Induced Hypertension Therapy According to the Mechanism of Single Subcortical Infarction.","authors":"Seung Taek Oh, Jun Young Chang, Dong-Wha Kang, Sun U Kwon, Sang Hee Ha, Bum Joon Kim","doi":"10.3988/jcn.2025.0486","DOIUrl":"10.3988/jcn.2025.0486","url":null,"abstract":"<p><strong>Background and purpose: </strong>Induced hypertension therapy (IHT) is effective for treating early neurological deterioration (END) in patients with single subcortical infarction (SSI). However, the underlying pathophysiology of SSI is diverse and may affect the efficacy of IHT.</p><p><strong>Methods: </strong>We reviewed patients with SSI who experienced END and received IHT were enrolled. END was defined as ≥2-point increase in the National Institutes of Health Stroke Scale (NIHSS) score, ≥1 motor point increase. IHT was performed by using phenylephrine infusion to raise systolic blood pressure by 10%-20% over baseline. SSI was classified into three subtypes: distal (dSSI), proximal (pSSI), and SSI with parental artery disease (SSIPAD; with stenosis at parental artery disease <50%). Responders were defined as patients who showed neurological improvement (decrease of ≥2 points in NIHSS, ≥1 motor point decrease) within one day after IHT initiation. Multivariable analysis identified factors associated with responders.</p><p><strong>Results: </strong>Characteristics were compared between responders and non-responders, and factors associated with response to IHT were investigated. Among 96 patients (mean age, 64.7±12.9 years; 61.5% male), 49 (51.0%) patients were categorized as responders. Multivariable analysis showed that pSSI (adjusted odds ratio [aOR]=18.10, 95% confidence interval [CI] 5.04-80.60, <i>p</i><0.001) and SSIPAD (aOR=4.56, 95% CI 1.31-19.00, p=0.024) were associated with a positive response to IHT compared to dSSI. Additionally, less white matter changes (Fazekas scale 0-1) were associated with a better response to IHT (aOR=0.15, 95% CI 0.03-0.67, <i>p</i>=0.019).</p><p><strong>Conclusions: </strong>Response to IHT varied according to SSI subtypes and the severity of small vessel changes.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"22 2","pages":"153-159"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12956465/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147348331","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":"Re: Comments on \"Association of Clopidogrel Genetic Polymorphism With Efficacy and Safety for Ischemic Stroke or Transient Ischemic Attack: A Systematic Review and Updated Meta-Analysis\".","authors":"Hyungjong Park, Tae-Jin Song","doi":"10.3988/jcn.2025.0678","DOIUrl":"10.3988/jcn.2025.0678","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"22 2","pages":"257-258"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12956447/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147348317","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":"The One-and-a-Half Syndrome of Korean Clinical Training: 1.5 Years of Fracturing.","authors":"Jong Seok Bae, Jeeyoung Oh","doi":"10.3988/jcn.2025.0703","DOIUrl":"10.3988/jcn.2025.0703","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"22 2","pages":"143-145"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12956463/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147348479","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":"Comments on: \"Association of Clopidogrel Genetic Polymorphism With Efficacy and Safety for Ischemic Stroke or Transient Ischemic Attack: A Systematic Review and Updated Meta-Analysis\".","authors":"Shyam Sundar Sah, Abhishek Kumbhalwar","doi":"10.3988/jcn.2025.0655","DOIUrl":"10.3988/jcn.2025.0655","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"22 2","pages":"255-256"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12956448/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147348340","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":"Refractory Status Epilepticus as an Initial Manifestation of IgA Nephropathy.","authors":"Dong Won Kwack, Hyelee Hwang, Ju Young Park, Dong Wook Kim","doi":"10.3988/jcn.2025.0662","DOIUrl":"10.3988/jcn.2025.0662","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"22 2","pages":"237-239"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12956445/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147348400","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":"Beyond the Eyes: Diplopia as an Early Manifestation of a Life-Threatening Condition in a Young Adult.","authors":"Hyun-Woo Kang, Jueun Kim, Sun-Uk Lee, Ji-Soo Kim","doi":"10.3988/jcn.2025.0557","DOIUrl":"10.3988/jcn.2025.0557","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"22 2","pages":"249-251"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12956460/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147348375","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}