Journal of Clinical Neurology最新文献

{"title":"Clinicopathological Correlations of Neurodegenerative Diseases in the National Brain Biobank of Korea.","authors":"Young Hee Jung, Jun Pyo Kim, Hee Jin Kim, Hyemin Jang, Hyun Jeong Han, Young Ho Koh, Duk L Na, Yeon-Lim Suh, Gi Yeong Huh, Jae-Kyung Won, Seong-Ik Kim, Ji-Young Choi, Sang Won Seo, Sung-Hye Park, Eun-Joo Kim","doi":"10.3988/jcn.2024.0517","DOIUrl":"https://doi.org/10.3988/jcn.2024.0517","url":null,"abstract":"<p><strong>Background and purpose: </strong>The National Brain Biobank of Korea (NBBK) is a brain bank consortium supported by the Korea Disease Control and Prevention Agency and the Korea National Institute of Health, and was launched in 2015 to support research into neurodegenerative disease dementia (NDD). This study aimed to introduce the NBBK and describes clinicopathological correlations based on analyses of data collected from the NBBK.</p><p><strong>Methods: </strong>Four hospital-based brain banks have been established in South Korea: Samsung Medical Center Brain Bank (SMCBB), Seoul National University Hospital Brain Bank (SNUHBB), Pusan National University Hospital Brain Bank (PNUHBB), and Myongji Hospital Brain Bank (MJHBB). Clinical and pathological data were collected from these brain banks using standardized protocols. The prevalence rates of clinical and pathological diagnoses were analyzed in order to characterize the clinicopathological correlations.</p><p><strong>Results: </strong>Between August 2016 and December 2023, 185 brain specimens were collected and pathologically evaluated (SNUHBB: 117; PNUHBB: 27; SMCBB: 34; MJHBB: 7). The age at consent was 70.8±12.6 years, and the age at autopsy was 71.7±12.4 years. The four-most-common clinical diagnoses were Alzheimer's disease (AD) dementia (20.0%), idiopathic Parkinson's disease (15.1%), unspecified dementia (11.9%), and cognitively unimpaired (CU) (11.4%). Most cases of unspecified dementia had a pathological diagnosis of central nervous system (CNS) vasculopathy (31.8%) or AD (31.8%). Remarkably, only 14.2% of CU cases had normal pathological findings. The three-most-common pathological diagnoses were AD (26.5%), CNS vasculopathy (14.1%), and Lewy body disease (13.5%).</p><p><strong>Conclusions: </strong>These clinical and neuropathological findings provide a deeper understanding of the mechanisms underlying NDD in South Korea.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 3","pages":"190-200"},"PeriodicalIF":2.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12056140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144064129","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":"Elevated Serum Amyloid A2 and A4 in Patients With Guillain-Barré Syndrome.","authors":"Xiaoying Yao, Baojun Qiao, Fangzhen Shan, Qingqing Zhang, Yan Song, Jin Song, Yuzhong Wang","doi":"10.3988/jcn.2024.0469","DOIUrl":"https://doi.org/10.3988/jcn.2024.0469","url":null,"abstract":"<p><strong>Background and purpose: </strong>Guillain-Barré syndrome (GBS) is an autoimmune-mediated disorder characterized by demyelinating or axonal injury of the peripheral nerve. Our aim is to determine whether serum amyloid A (SAA) is a biomarker of demyelinating injury and disease severity in patients with GBS.</p><p><strong>Methods: </strong>This study retrospectively enrolled 40 patients with either the demyelinating or axonal GBS and sex- and age-matched controls with other neurological diseases as well as healthy subjects. The demographic and clinical features at entry were collected. The serum levels of the SAA isoforms SAA1, SAA2, and SAA4 were determined in the patients with GBS and the controls using the enzyme-linked immunosorbent assay and analyzed for the associations between levels of different SAA isoforms and the clinical features of the patients.</p><p><strong>Results: </strong>The levels of SAA2 and SAA4 were significantly higher in patients with GBS than in both the other neurological disease controls and the healthy subjects (<i>p</i><0.05 for all). The level of SAA1 did not differ between patients with GBS and the controls. The level of SAA2 was considerably higher in GBS patients with antecedent infection than in those without infection (<i>p</i>=0.020). The levels of different SAA isoforms were not associated with the disease severity or other clinical features of patients with GBS (<i>p</i>>0.05 for all).</p><p><strong>Conclusions: </strong>Increased levels of SAA2 and SAA4 may only represent the acute inflammatory status and so cannot be utilized as biomarkers of the disease severity or demyelinating injury in patients with GBS.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 3","pages":"213-219"},"PeriodicalIF":2.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12056137/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144026710","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":"Serum Amyloid A in Guillain-Barré Syndrome: A New Frontier in Biomarker Research.","authors":"Sooyoung Kim, Eunhee Sohn","doi":"10.3988/jcn.2025.0178","DOIUrl":"https://doi.org/10.3988/jcn.2025.0178","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 3","pages":"159-160"},"PeriodicalIF":2.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12056128/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987873","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":"Multiple Sclerosis After the Age of 50 Years: A Comparative Analysis of Late Onset and Adult Onset.","authors":"Ricardo Soares-Dos-Reis, Pedro Silva, Francisca Ferreira, Mafalda Seabra, Teresa Mendonça, Pedro Abreu, Joana Guimarães","doi":"10.3988/jcn.2024.0302","DOIUrl":"https://doi.org/10.3988/jcn.2024.0302","url":null,"abstract":"<p><strong>Background and purpose: </strong>The incidence of multiple sclerosis (MS) among older patients is increasing. Some of these patients develop the disease after the age of 50 years, a condition known as late-onset MS (LOMS). This study aimed to characterize MS in older patients (50-75 years-old) by comparing LOMS with adult-onset MS (AOMS).</p><p><strong>Methods: </strong>We retrospectively analyzed data from 230 patients aged 50-75 years who attended a Portuguese tertiary referral center.</p><p><strong>Results: </strong>This study included 189 AOMS patients aged 58 [54-63] years (median [interquartile range]) and 41 LOMS patients aged 67 [61-70] years. Females predominated in both the LOMS (70.7%) and AOMS (75.1%) groups. Primary progressive MS was more common in LOMS than AOMS patients (19.5% vs. 8.0%, <i>p</i>=0.03) and these two groups had equivalent proportions of relapsing-remitting MS (53.7% vs. 59.0%, <i>p</i>=0.55). The Expanded Disability Status Scale (EDSS) score at the diagnosis was higher in the LOMS patients (2 [1-4], <i>p</i>=0.03), but the current EDSS score did not differ significantly between the LOMS and AOMS patients (3.5 [1.75-6] vs. 3 [1.5-6], <i>p</i>=0.86). After adjusting or matching for age and disease duration, the current EDSS scores were not significantly different in the two groups. The proportion of patients currently receiving disease-modifying therapies was higher in LOMS patients (97.6%, <i>p</i>=0.02). A higher proportion of patients with a later onset had infratentorial involvement at a 5-year follow-up (86.7%, <i>p</i>=0.01). The time to an EDSS score of 6.0 was shorter for LOMS patients.</p><p><strong>Conclusions: </strong>The LOMS patients presented with higher EDSS scores at the diagnosis, reaching a level of disability not significantly different from AOMS patients of the same age group despite a shorter disease course.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 3","pages":"201-212"},"PeriodicalIF":2.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12056141/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144007666","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":"Pain Lateralization in Cluster Headache and Associated Clinical Factors.","authors":"Soohyun Cho, Mi Ji Lee, Min Kyung Chu, Jeong Wook Park, Heui-Soo Moon, Pil-Wook Chung, Jong-Hee Sohn, Byung-Su Kim, Daeyoung Kim, Kyungmi Oh, Byung-Kun Kim, Soo-Jin Cho","doi":"10.3988/jcn.2024.0457","DOIUrl":"https://doi.org/10.3988/jcn.2024.0457","url":null,"abstract":"<p><strong>Background and purpose: </strong>The pain lateralization in cluster headache (CH) may be related to the asymmetry in the functions of the brain hemispheres. The right-sided dominance of pain in CH has been found inconsistently across studies, and so we aimed to characterize this and identify the factors influencing pain lateralization during current and previous bouts.</p><p><strong>Methods: </strong>This study enrolled 227 patients from the Korean Cluster Headache Registry between October 2018 and December 2020. We evaluated the side of pain during current and previous bouts, demographic features, and clinical characteristics, including handedness. Multivariable logistic regression analyses were performed to identify factors associated with the side of pain.</p><p><strong>Results: </strong>The 227 patients with CH included 131 (57.7%) with right-sided pain and 86 (37.9%) with left-sided pain during the current bout (<i>p</i><0.001). The 189 patients with previous bouts of CH included 86.8% who consistently reported the same side of pain throughout multiple bouts (side-locked pain), with a higher prevalence of pain on the right than the left side (55.0% vs. 31.7%, <i>p</i><0.001). Multivariable analyses revealed that higher age at diagnosis (odds ratio [OR]=1.045, <i>p</i>=0.031) and shorter CH attacks (OR=0.992, <i>p</i>=0.017) were associated with left-side-locked pain. However, handedness was not associated with the lateralization of left-side-locked pain.</p><p><strong>Conclusions: </strong>This study has confirmed the predominance of right-sided pain throughout multiple CH bouts. We found that higher age at diagnosis and shorter CH attacks were associated with left-side-locked pain, suggesting that certain clinical factors are associated with the pain laterality. However, the underlying mechanisms linking these factors to lateralized pain remain unclear and therefore require further investigation.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 3","pages":"220-229"},"PeriodicalIF":2.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12056138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020059","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":"Stroke-Like Episode, Aphasia, and Hearing Loss in MELAS.","authors":"Asael Lubotzky, Michael Teitcher","doi":"10.3988/jcn.2024.0545","DOIUrl":"https://doi.org/10.3988/jcn.2024.0545","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 3","pages":"244-246"},"PeriodicalIF":2.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12056133/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966313","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":"Development and Application of a Cell-Based Assay for Detecting Anti-Agrin Antibodies Associated With Myasthenia Gravis.","authors":"Seon Hui Kim, Hye Yoon Chung, MinGi Kim, Seung Woo Kim, Ha Young Shin","doi":"10.3988/jcn.2024.0413","DOIUrl":"10.3988/jcn.2024.0413","url":null,"abstract":"<p><strong>Background and purpose: </strong>Anti-agrin antibodies (agrin Abs) have recently been identified in patients with myasthenia gravis (MG), sometimes in conjunction with antibodies (Abs) to the acetylcholine receptor (AChR), muscle-specific tyrosine kinase (MuSK), or low-density lipoprotein receptor-related protein 4. This study aimed to develop an in-house cell-based assay (CBA) for detecting agrin Abs, and to test its application to serum samples collected from individuals diagnosed with MG.</p><p><strong>Methods: </strong>Agrin complementary DNA as cloned into a pCMV6-AC-GFP vector, which was subsequently transfected into human embryonic kidney 293T (HEK293T) cells. Transfected HEK293T cells were incubated with patient serum and antihuman immunoglobulin G Ab conjugated with a red fluorescent dye. Agrin Ab levels were measured using the CBA in 389 serum samples: 340 from patients with MG, 36 from patients with other neuromuscular diseases, and 13 from healthy controls. The presence of agrin Ab was determined based on the fluorescence intensity and colocalization using fluorescence microscopy.</p><p><strong>Results: </strong>The expression levels of agrin mRNA and protein in transfected HEK293T cells were confirmed using the reverse-transcription polymerase chain reaction and Western blotting, respectively. Agrin expression in cells was further confirmed by immunocytochemistry. Two (0.6%) of the 340 patients with MG tested positive for agrin Ab: 1 of 191 AChR-positive patients and 1 of 54 MuSK-positive patients.</p><p><strong>Conclusions: </strong>We have developed and validated a novel CBA for detecting agrin Abs. This CBA was successfully applied to detect agrin Abs in serum samples obtained from individuals with MG.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 2","pages":"105-112"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11896744/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597195","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":"Long-Term Efficacy and Quality-of-Life Changes After Vagus Nerve Stimulation in Adult Patients With Drug-Resistant Epilepsy.","authors":"Edyta Zwolińska, Marcin Birski, Szymon Hoppe, Dariusz Paczkowski, Marek Harat","doi":"10.3988/jcn.2024.0218","DOIUrl":"10.3988/jcn.2024.0218","url":null,"abstract":"<p><strong>Background and purpose: </strong>There is a current need to understand the efficacy and quality of life (QoL) outcomes of vagus nerve stimulation (VNS). Identifying patients most likely to benefit from VNS could aid in their selection, reduce side effects, and improve outcomes. Here we studied clinical and QoL outcomes after VNS in patients with drug-resistant epilepsy and attempted to identify response predictors.</p><p><strong>Methods: </strong>This was a retrospective study of 55 patients with drug-resistant epilepsy treated surgically during 2004-2018, 40 of whom were eligible for inclusion in the analysis. All surgeries were performed using a standard protocol by a neurosurgeon experienced in epilepsy treatment after referral by an attending neurologist. Data were collected from medical records and through a 28-item questionnaire on seizure frequency, duration, and strength before and after VNS, as were the number and type of postoperative complications and their significance to the patient, and QoL based on the 31-item Quality of Life in Epilepsy questionnaire.</p><p><strong>Results: </strong>Improvements in seizure frequency, duration, and strength were observed in 65% of the patients with drug-resistant epilepsy treated using VNS. The most common complication was hoarseness (70%), and complications were poorly tolerated by 12% of the patients. Repeated surgery to replace batteries or electrodes was required in 20% of the patients. Health status was the only QoL parameter significantly impacted by VNS. No significant efficacy predictors were identified.</p><p><strong>Conclusions: </strong>Efficacy across the first month of treatment is a strong indicator of long-term outcomes of VNS. The stimulator can be removed if it does not provide any benefit.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 2","pages":"113-122"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11896742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597218","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":"Early-Onset Parkinson's Disease in a Patient With a De Novo Frameshift Variant of the <i>ANKRD11</i> Gene and KBG Syndrome.","authors":"Maria-Ioanna Stefanou, Vasileios K Katsaros, Georgia Pepe, Aikaterini Theodorou, Danai Stefanou, Eleftheria Koropouli, George P Paraskevas, Georgios Tsivgoulis","doi":"10.3988/jcn.2024.0454","DOIUrl":"10.3988/jcn.2024.0454","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 2","pages":"153-155"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11896747/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597203","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":"Higher Prevalence of Common Neurological Soft Signs in Essential Tremor With Midline Distribution: A Multicenter Cohort Study.","authors":"Yanting Li, Runcheng He, Mingqiang Li, Lanqing Liu, Qiying Sun","doi":"10.3988/jcn.2024.0427","DOIUrl":"10.3988/jcn.2024.0427","url":null,"abstract":"<p><strong>Background and purpose: </strong>Essential tremor with a midline distribution (Mid-ET) may represent a distinct subtype of essential tremor (ET) that primarily affects midline structures, often indicating advanced disease stage and increased severity. Recent studies have highlighted the complexity of Mid-ET, but research on neurological soft signs (NSS) in Mid-ET remains insufficient.</p><p><strong>Methods: </strong>The patients with ET included in this cross-sectional study were divided into two subgroups based on whether or not the ET had a midline distribution: Mid-ET and No-Mid-ET. Comparative analyses were performed to assess clinical features and NSS prevalence in these subgroups.</p><p><strong>Results: </strong>Among 1,160 patients, 567 (48.9%) were Mid-ET and 593 (51.1%) were No-Mid-ET. The prevalence rates of head, face (including the jaw), and voice tremors were 31.9%, 23.0%, and 25.8%, respectively. In Mid-ET, tremor often affects multiple midline structures simultaneously. In the entire cohort, 24.7%, 16.6%, and 7.6% of patients exhibited tremors in one, two, and three midline structures, respectively. The prevalence of common NSS, including mild cognitive impairment, impaired tandem gait, and questionable dystonic posturing, was significantly higher in the Mid-ET than the No-Mid-ET subgroup (all <i>p</i><0.001). Furthermore, we found that female sex (<i>p</i><0.001), olfactory dysfunction (<i>p</i>=0.003), and questionable dystonic posturing (<i>p</i>=0.004) were associated with Mid-ET.</p><p><strong>Conclusions: </strong>Mid-ET and No-Mid-ET presented significant clinical differences. The presence of questionable dystonic posturing may contribute to the distinct characteristics of Mid-ET, suggesting the presence of pathophysiological differences between the subgroups. Further investigations are warranted to determine the potential pathophysiological link between NSS and Mid-ET.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"21 2","pages":"95-104"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11896743/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597216","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}