Journal of Clinical Neurology最新文献

{"title":"Reports of the Clinician's Demise Are Greatly Exaggerated: Clinical Judgment Remains Key in Diagnosing MOGAD.","authors":"Marina Buciuc, Eoin P Flanagan","doi":"10.3988/jcn.2026.0151","DOIUrl":"10.3988/jcn.2026.0151","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"22 3","pages":"268-270"},"PeriodicalIF":3.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13161542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147868461","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":"Unmasking the Prodrome: A Deep-Learning Bridge to Precision Diagnostics in Rapid Eye Movement Sleep Behavior Disorder.","authors":"Kyum-Yil Kwon","doi":"10.3988/jcn.2026.0145","DOIUrl":"10.3988/jcn.2026.0145","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"22 3","pages":"262-263"},"PeriodicalIF":3.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13161539/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147868597","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":"Association of Sleep Hygiene Practice With Disturbed Sleep in Early-Stage Parkinson's Disease.","authors":"Chan Young Lee, Jee Hyun Kim, Dongyeop Kim, Ji Young Yun","doi":"10.3988/jcn.2025.0548","DOIUrl":"10.3988/jcn.2025.0548","url":null,"abstract":"<p><strong>Background and purpose: </strong>To investigate the association between sleep hygiene practices and sleep disturbance in patients with Parkinson's disease (PD).</p><p><strong>Methods: </strong>A cross-sectional study was conducted involving 109 PD patients. Sleep disturbance and sleep hygiene were evaluated using the Korean version of Parkinson's Disease Sleep Scale-2 (K-PDSS-2) and the Sleep Hygiene Practice Scale-Korean version (SHPS-K), respectively. Multivariate linear regression analysis was performed, adjusting for potential confounding factors, such as age, body mass index, education, Hoehn and Yahr stage, cognitive function and depressive symptoms.</p><p><strong>Results: </strong>Higher SHPS-K scores, reflecting poorer sleep hygiene, were significantly associated with greater sleep disturbance (B=0.254, <i>p</i><0.001). Among the SHPS-K subdomains, arousal-related behaviors and irregular sleep scheduling showed the strongest correlations with K-PDSS-2 scores, while eating/drinking and sleep environments were not significantly related.</p><p><strong>Conclusions: </strong>Poor sleep hygiene is significantly associated with disturbed sleep in patients with early-stage PD. These findings support the potential utility of non-pharmacological interventions targeting modifiable behavioral factors to improve sleep-related outcomes in patients with PD.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"22 3","pages":"313-318"},"PeriodicalIF":3.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13161576/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147868536","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":"Neuroimaging of Disorder of Consciousness: From Brain Network Mechanisms to Clinical Translation.","authors":"Jung Hwa Lee, Nooshin J Fesharaki, Chiara Scopice, Jaden D Custard, Seong Kyu Yang, Artemy Vinogradov, Nitin Tandon, Huimahn A Choi, Jung Hwan Kim","doi":"10.3988/jcn.2025.0650","DOIUrl":"10.3988/jcn.2025.0650","url":null,"abstract":"<p><p>Consciousness is central to the human condition, but its inherent characteristics and underlying mechanisms remain poorly understood. Advances in neuroscience based on the concept of the vegetative state have expanded the understanding of disorders of consciousness (DoC), particularly the minimally conscious state (MCS) and emergence from the MCS. Despite this progress, diagnostic uncertainty persists due to the subtlety of clinical signs and variable outcomes. Although standardized behavioral scales remain the gold standard for diagnosing DoC, advanced imaging and electrophysiological tools increasingly highlight the importance of multimodal assessments. These approaches have demonstrated that patients who appear unresponsive in behavioral assessments may voluntarily engage in mental activities that can be detected using functional magnetic resonance imaging and electroencephalography, potentially revealing covert consciousness and suggesting possible therapeutic strategies. This review consolidates the current evidence on the diagnosis, prognosis, and mechanisms of DoC across various neurological conditions. We highlight the role of brain networks in producing diverse phenotypes as well as the need for well-designed studies that can improve multimodal diagnostic strategies. Building on recent initiatives aimed at standardizing definitions, prognostic guidelines, data collection, and clinical management practices, we show that further multimodal neuroimaging research is essential to improving diagnoses, prognostication, and outcomes for patients with DoC and their families.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"22 3","pages":"283-302"},"PeriodicalIF":3.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13161593/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147868480","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":"Astrocyte Heterogeneity in Multiple Sclerosis From Reactive Glia to Therapeutic Targets.","authors":"Byung-Jo Kim","doi":"10.3988/jcn.2026.0106","DOIUrl":"10.3988/jcn.2026.0106","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"22 3","pages":"259-261"},"PeriodicalIF":3.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13161536/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147868462","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":"Biomarkers in Spinal Metastasis of Breast Cancer: Insights Into Survival and Functional Outcomes.","authors":"Albert Antar, Abdel-Hameed Al-Mistarehi, Yuanxuan Xia, Pritika Papali, Shreya Sriram, Melanie Alfonzo Horowitz, Shahab Aldin Sattari, Sushanth Neerumalla, Benjamin Z Mendelson, Carly Weber-Levine, William ElNemer, Bhavya Pahwa, Sang Lee, Kristin J Redmond, Ali Bydon, Timothy F Witham, Nicholas Theodore, Daniel Lubelski","doi":"10.3988/jcn.2025.0440","DOIUrl":"10.3988/jcn.2025.0440","url":null,"abstract":"<p><strong>Background and purpose: </strong>Breast cancer is the most common malignancy in females, with osseous metastasis predominantly occurring in the spine. We investigated the prevalence of mutations in patients with metastatic breast cancer to the spine (MBCS) and evaluated genotypic and therapeutic prognostic factors associated with survival.</p><p><strong>Methods: </strong>The medical records and molecular genetic profiles of 50 patients diagnosed with MBCS at a single comprehensive cancer center between May 2013 and October 2022 were reviewed retrospectively. Data on demographics, biomarkers from genetic sequencing and immunohistochemistry, and anticancer therapies were collected. Overall survival rates were calculated, and accelerated-failure-time (AFT) models were used to identify prognostic factors for survival.</p><p><strong>Results: </strong>The median overall survival time was approximately 6 years. Ninety-nine biomarkers were identified, with the estrogen receptor (ER) (38.4%), GATA protein binding 3 (32.3%), progesterone receptor (28.3%), human epidermal growth factor receptor 2 (13.1%), and AE1/AE3 (8.1%) being the most common. ER⁺ was the only biomarker associated with better survival when accounting for smoking status and treatment in an AFT model. Worse survival was associated with a smoking history (time ratio [TR]=0.427, <i>p</i>=0.043) and immunotherapy or targeted therapy (TR=0.440, <i>p</i>=0.048), but not radiotherapy of spinal metastasis (TR=0.256, <i>p</i>=0.121). In an alternative AFT model, better survival was associated with eribulin (TR=3.374, <i>p</i>=0.009), whereas worse survival was associated with pertuzumab (TR=0.390, <i>p</i>=0.010) and capecitabine (TR=0.496, <i>p</i>=0.024).</p><p><strong>Conclusions: </strong>Only ER expression was associated with the overall survival time when other confounding factors such as smoking status and treatment type were considered. A smoking history was associated with shorter survival, while eribulin was associated with survival prolongation.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"22 3","pages":"343-354"},"PeriodicalIF":3.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13161545/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147868488","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":3.6,"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":"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":3.6,"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":"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":3.6,"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":"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":3.6,"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}