Journal of Neurology, Neurosurgery, and Psychiatry最新文献

{"title":"Bridging thrombolysis with tenecteplase versus endovascular thrombectomy alone for large-vessel anterior circulation stroke: a target trial emulation analysis.","authors":"Valerian L Altersberger, Johannes Kaesmacher, Leonid Churilov, Vignan Yogendrakumar, Jan Gralla, Daniel Strbian, David J Seiffge, Peter J Mitchell, Timothy J Kleinig, Bruce Cv Campbell, Urs Fischer","doi":"10.1136/jnnp-2024-335325","DOIUrl":"10.1136/jnnp-2024-335325","url":null,"abstract":"<p><strong>Background: </strong>Whether bridging thrombolysis with tenecteplase is beneficial compared with thrombectomy alone in patients who had a stroke with large-vessel occlusion remains unclear.</p><p><strong>Methods: </strong>This is a causal inference study of observational data from the trials SWIFT DIRECT and EXTEND-IA TNK Parts 1 and 2 applying target trial emulation. We compared patients receiving thrombectomy alone to patients receiving tenecteplase 0.25 mg/kg or 0.40 mg/kg before thrombectomy. The primary outcome was functional independence (modified Rankin Scale (mRS) of 0-2) at 90 days. Secondary outcomes included improvement over the full ordinal mRS scale, freedom of disability (mRS 0-1), mortality and occurrence of symptomatic intracranial haemorrhage. The average causal treatment effect was estimated via inverse probability of treatment weighting and G-Computation. We calculated standardised risk differences (SRDs) and adjusted (common) ORs (a(c)ORs).</p><p><strong>Results: </strong>Of 377 patients included in the target trial, 187 received thrombectomy alone and 190 tenecteplase before thrombectomy. Tenecteplase before thrombectomy did not increase the probability of patients achieving functional independence (SRD 0.04 (95% CI -0.06 to 0.13)) but resulted in a significant improvement in the mRS overall (acOR 1.56 (95% CI 1.07 to 2.23)) and in a higher probability of freedom from disability (SRD 0.10 (95% CI 0.01 to 0.20)). The probability for improvement of functional outcomes was further increased in patients treated within 140 min after onset (ordinal mRS acOR 1.63 (95% CI 1.04 to 2.56)). No significant differences in safety outcomes were observed between the two groups.</p><p><strong>Conclusion: </strong>Tenecteplase before thrombectomy compared with thrombectomy alone did not increase the probability of functional independence but resulted in significant improvement over the full mRS scale. This improvement was most evident in patients treated early.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"775-783"},"PeriodicalIF":7.5,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12322409/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MOG antibody non-P42 epitope is associated with a higher risk of relapse in paediatric MOGAD.","authors":"Aseel El Hajj, Anne Ruiz, Antoine Gavoille, Justine Couturier, Pascale Giraudon, Lakhdar Benyahya, Lisa Malaise, Maxime Bigotte, Claire Benetollo, Gaetan Amorim, Julia Roux, Carole Leroy, Ann-Kathrin Kogel, Ilya Ayzenberg, Friedemann Paul, Sudarshini Ramanathan, Russell C Dale, Kumaran Deiva, Fabienne Brilot, Romain Marignier","doi":"10.1136/jnnp-2024-335579","DOIUrl":"10.1136/jnnp-2024-335579","url":null,"abstract":"<p><strong>Background: </strong>Biomarkers for predicting myelin oligodendrocyte glycoprotein antibody (Ab)-associated disease (MOGAD) clinical course are still missing. Binding capacity to a mutant MOG protein variant (MOG-P42S; non-P42) was shown to correlate with an increased relapse risk in adult patients.The objective of our study was to assess the frequency of binding to the non-P42 MOG variant in a cohort of paediatric MOGAD and to investigate its association with specific clinical profiles and disease course.</p><p><strong>Methods: </strong>We included children with MOG-Ab seropositive samples collected after their first demyelinating episode from five different centres. We performed live cell-based assays with native full-length MOG (MOG-FL) and mutant MOG-P42S and correlated the results with clinical data.</p><p><strong>Results: </strong>Of the 81 MOG-FL identified patients serum, 40 bound the non-P42 MOG. Non-P42 patients exhibited an earlier median age of onset (p=0.002). Phenotype distribution was different between groups (p=0.001), with non-P42 patients predominantly exhibiting acute disseminated encephalomyelitis phenotype. Notably, the non-P42 group was associated with a higher relapse rate (relative rate: 2.6 (95% CI 1.1 to 6.2), p=0.03), adjusted for clinical phenotype.</p><p><strong>Conclusion: </strong>Non-P42 is a promising biomarker for predicting relapse in paediatric MOGAD patients.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"753-756"},"PeriodicalIF":7.5,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12322422/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Worldwide epidemiology of paediatric multiple sclerosis: data from the Multiple Sclerosis International Federation Atlas of MS, third edition.","authors":"Grace Gombolay, Laura Johnson, Rachel King, Madeleine Hebert, Brenda Banwell, Tanuja Chitnis, Anne Helme","doi":"10.1136/jnnp-2024-335175","DOIUrl":"10.1136/jnnp-2024-335175","url":null,"abstract":"<p><strong>Background: </strong>Limited data are available on the global rates of paediatric multiple sclerosis. Here, we report on the estimated worldwide prevalence of paediatric MS.</p><p><strong>Methods: </strong>We included paediatric prevalence data in 2020-2022 (Multiple Sclerosis International Federation Atlas of MS) and the prevalence of child neurologists (International Child Neurology Association). Data were split into prevalence bands per 100 000. Countries were classified by the WHO Region and World Bank Income. Descriptive analyses were performed. An estimated worldwide prevalence rate was calculated from the 2020-2022 paediatric prevalence data, which was adjusted to reduce outliers' impact and to reflect worldwide income distribution. The Atlas of MS data was obtained via survey of coordinators from the countries who use different tracking methods including national registries vs crude estimates.</p><p><strong>Results: </strong>Paediatric data were available in 24% (53/219) countries (38 higher and 15 lower income) with 31 420 total paediatric MS cases. In 2022, 67% (10/15) of lower income countries reported prevalence bands of '<1.0' compared with 34% (13/38) of higher income countries. Only 7% (1/15) of lower income countries reported prevalence bands '≥3.1'compared with 34% (13/38) of higher income countries. The rates of child neurologists positively correlated with the prevalence band. In 2020-2022, the estimated global prevalence (crude) was 2.53/100 000 (95% CI 2.51 to 2.56), with an adjusted prevalence rate of 1.48/100 000 (95% CI 1.45 to 1.51).</p><p><strong>Conclusions: </strong>Access to epidemiology data from resource-limited countries is challenging including surveillance for case ascertainment. Increased resources and standard methodologies will facilitate the understanding of rare disease epidemiology.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"814-820"},"PeriodicalIF":8.7,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029091","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Silent burden: recognising and managing invisible symptoms in neuromyelitis optica.","authors":"Lorena Lorefice, Antonio Carotenuto, Giuseppe Fenu","doi":"10.1136/jnnp-2025-336041","DOIUrl":"10.1136/jnnp-2025-336041","url":null,"abstract":"<p><p>Aquaporin-4-positive neuromyelitis optica spectrum disorder (AQP4+NMOSD) is an autoimmune astrocytopathy primarily characterised by visual, motor, and sensory symptoms, depending on lesion location. However, patients frequently experience invisible symptoms such as fatigue, pain, neuropsychiatric symptoms, and bladder/bowel dysfunction, which are often overlooked despite their substantial impact on quality of life. A systematic literature review was conducted using PubMed, with keywords related to fatigue, pain, bladder/bowel dysfunction, and neuropsychiatric symptoms in the context of AQP4+NMOSD. The review explores the prevalence, assessment, and management of these frequently neglected symptoms. There is a critical need for improved detection and monitoring of invisible symptoms in AQP4+NMOSD. Enhanced assessment is crucial not only for developing targeted therapies but also for determining whether these symptoms reflect underlying disease activity, ultimately leading to optimised treatment strategies.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"744-752"},"PeriodicalIF":8.7,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144285013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biomarker-based Alzheimer's diagnosis: learning to use p-tau217 wisely.","authors":"Michael P Lunn","doi":"10.1136/jnnp-2025-336572","DOIUrl":"10.1136/jnnp-2025-336572","url":null,"abstract":"","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"721"},"PeriodicalIF":8.7,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144142782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tailoring thresholds for interpreting plasma p-tau217 levels.","authors":"Jehyun Ahn, Eun Hye Lee, Heejin Yoo, Daeun Shin, Heekyoung Kang, Sohyun Yim, Seongmi Kim, Kyoungmin Kim, Soyeon Yoon, Henrik Zetterberg, Kaj Blennow, Fernando Gonzalez-Ortiz, Nicholas Ashton, Sung Hoon Kang, Jihwan Yun, Jun Pyo Kim, Hee Jin Kim, Duk L Na, Hyemin Jang, Kyunga Kim, Sang Won Seo","doi":"10.1136/jnnp-2025-335830","DOIUrl":"10.1136/jnnp-2025-335830","url":null,"abstract":"<p><strong>Background: </strong>Plasma phosphorylated tau (p-tau) 217 test has emerged as a minimally invasive and accessible alternative to positron emission tomography imaging and cerebrospinal fluid analysis for Alzheimer's disease (AD) diagnostics. However, the diagnostic performance of p-tau217 across diverse cognitive and demographic subgroups remains underexplored. This multicentre cross-sectional study aimed to assess the diagnostic utility of plasma p-tau217 using a double cut-off approach in a large, diverse cohort, focusing on subgroup analyses based on cognitive status, age, sex, body mass index and <i>APOE</i> ε4 carrier status.</p><p><strong>Methods: </strong>Plasma p-tau217 levels were analysed in cognitively unimpaired (CU) and cognitively impaired (CI) individuals. Double cut-offs for p-tau217 levels were selected to classify participants into amyloid-negative, intermediate and amyloid-positive groups. Diagnostic performance metrics including sensitivity, specificity, positive predictive value and negative predictive value were evaluated across subgroups, and tailored cut-off strategies were explored for specific populations.</p><p><strong>Results: </strong>The optimal cut-offs differed between CU and CI groups. In the CI group, diagnostic accuracy was consistently high across all subgroups, meeting confirmatory test standards with sensitivity and specificity ≥90%. In the CU group, the appropriate standards varied by subgroup. Participants aged <65 years required alternative cut-offs to improve sensitivity to 85.0% and maintain specificity at 95.7%.</p><p><strong>Conclusion: </strong>Plasma p-tau217 demonstrated robust diagnostic accuracy across CI subgroups and highlighted the importance of tailored cut-off thresholds for CU populations. These findings support the integration of plasma p-tau217 into clinical workflows for AD diagnostics, emphasising its potential for early detection and risk stratification.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"722-727"},"PeriodicalIF":8.7,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144142784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cognitive changes in patients with relapse-free MS treated with high efficacy therapies: the predictive value of paramagnetic rim lesions.","authors":"Vincenzo Daniele Boccia, Elisa Leveraro, Emilio Cipriano, Caterina Lapucci, Tommaso Sirito, Maria Cellerino, Giacomo Rebella, Lorenza Nasone, Giacomo Boffa, Matilde Inglese","doi":"10.1136/jnnp-2024-335144","DOIUrl":"10.1136/jnnp-2024-335144","url":null,"abstract":"<p><strong>Background: </strong>High-efficacy disease-modifying therapies (HETs) have substantially improved multiple sclerosis (MS) management, yet ongoing cognitive decline remains a concern. This study aims to assess Symbol Digit Modalities Test (SDMT) changes in patients with stable relapsing-remitting MS (RRMS) treated with HETs and to evaluate the role of baseline MRI biomarkers as predictors of SDMT changes.</p><p><strong>Methods: </strong>Consecutive patients with RRMS treated with HETs underwent clinical, SDMT and MRI assessment at baseline with SDMT and clinical re-evaluation after 24 months. Patients presenting relapses or MRI activity (new T2 and/or gadolinium-enhancing lesions) during follow-up were excluded. Cognitive changes were defined using the 90% CI regression-based reliable change index methodology accounting for sex, age, education and baseline score. Baseline MRI examination included three-dimensional-sagittal Fluid Attenuated Inversion Recovery (FLAIR), T1-Magnetization Prepared - RApid Gradient Echo (T1-MPRAGE) and quantitative susceptibility mapping (QSM) for paramagnetic rim lesions (PRLs) and QSM-isointense lesions (ISO) assessment. Univariate and multivariable regression analyses were performed to predict SDMT changes.</p><p><strong>Results: </strong>90 patients (mean age: 40.3 years, median Expanded Disability Status Scale: 2.0) were included. PRLs were present in 46 (51.1%) patients. After 24 months, 13 (14.4%) patients showed SDMT decline and 8 (8.9%) showed improvement. At multivariable analyses, PRLs were associated with higher risk of SDMT decline (β: 2.70, p: 0.02, OR: 14.82) while higher ISO lesion volumes were weakly associated with SDMT improvement (β: 0.07, p: 0.01, OR: 1.07).</p><p><strong>Conclusions: </strong>SDMT decline and improvement are detectable in patients with RRMS without clinical or MRI activity over 2 years. PRLs seem to predict SDMT decline in MS, underscoring the critical role of compartmentalised chronic inflammation in disease progression.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"807-813"},"PeriodicalIF":8.7,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term exposure to multiple air pollutants and risk of Parkinson's disease: a population-based multipollutant model study.","authors":"Szu-Ju Chen, Shih-Chun Pan, Chih-Da Wu, Hsun Li, Yue Leon Guo, Chin-Hsien Lin","doi":"10.1136/jnnp-2024-334825","DOIUrl":"10.1136/jnnp-2024-334825","url":null,"abstract":"<p><strong>Background: </strong>Recent evidence suggests brain-first Parkinson's disease (PD) may start from the olfactory system, indicating potential inhalational exposure to causal agents. We investigated the impact of long-term exposure to various air pollutants on PD incidence using both single- and multi-pollutant models to account for interactions between pollutants.</p><p><strong>Methods: </strong>This retrospective population study used data from Taiwan's National Health Insurance Research Database (2006 and 2018) and included individuals aged 40-65 without PD. Personal exposure levels to various air pollutants, including PM_2.5, PM₁₀, NO₂, O₃, SO₂ and CO, were calculated using the hybrid Kriging/land-use regression method. Cox regression models were used to analyse the association between pollutants and PD incidence, adjusting for covariates.</p><p><strong>Results: </strong>A total of 5 113 322 individuals without PD (mean age 50.1±6.9 years, 47.3% men) were followed for an average of 11.2±2.4 years, during which 20 694 incident cases of PD were identified. In the single-pollutant model, exposure to PM_2.5 (HR 2.65 (95% CI 2.59 to 2.72)), PM₁₀ (HR 3.13 (3.04 to 3.22)), NO₂ (HR 1.74 (1.68 to 1.80)) and SO₂ (HR 1.68 (1.65 to 1.71)) was associated with an increased risk of PD. These associations remained robust in the multipollutant model. A positive association between exposure to O₃ and an increased risk of PD (HR 1.29 (1.25-1.33)) was observed after adjusting for co-pollutants.</p><p><strong>Conclusions: </strong>This nationwide cohort study employing multiple-pollutant models for considering the interaction effects revealed an association between exposure to multiple air pollutants and the risk of PD, emphasising the need for early prevention strategies.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"757-765"},"PeriodicalIF":7.5,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12322442/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142895443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.","authors":"Alessandro Bertini, Stefano Facchini, Ilaria Quartesan, Riccardo Currò, Ricardo Parolin Schnekenberg, Natalia Dominik, Gustavo Alves, Lucia Ferullo, Arianna Tucci, Henry Houlden, Mary M Reilly, Andrea Cortese","doi":"10.1136/jnnp-2025-336590","DOIUrl":"https://doi.org/10.1136/jnnp-2025-336590","url":null,"abstract":"<p><strong>Background: </strong>CGG expansions in <i>NOTCH2NLC</i> and <i>LRP12</i> were recently identified as a cause of Charcot-Marie-Tooth disease (CMT) in 1.2%-10.6% of genetically undiagnosed patients in China, Taiwan and Japan. However, their relevance in CMT patients of different ethnic origin is still unknown.</p><p><strong>Methods: </strong>Here, we leveraged short-read whole genome sequencing data from the 100 000 Genomes Project to investigate the presence and frequency of CGG expansions in <i>NOTCH2NLC</i>, <i>LRP12</i> and additional genes associated with oculopharyngodistal myopathy (OPDM), in 560 genetically unsolved patients diagnosed with CMT and 32 509 non-neurological controls.</p><p><strong>Results: </strong>Repeat expansions in <i>NOTCH2NLC</i>, <i>LRP12</i>, <i>RILPL1</i>, <i>NUTM2B-AS1</i> and <i>ABCD3</i> were absent from 560 genetically unsolved patients with CMT, mostly of Northern European ancestry. One patient of African ancestry carried an expanded allele in <i>GIPC1</i>, below the reported pathogenic threshold. However, rare expansions in this gene, as well as in <i>NOTCH2NLC</i>, <i>NUTM2B-AS1</i> and <i>ABCD3</i>, were also detected in controls (≤0.05%). The distribution of repeat size at these loci varied significantly across different ethnicities, with larger non-pathogenic intermediate alleles of <i>NOTCH2NLC</i> and <i>LRP12</i> typically observed in East Asians.</p><p><strong>Conclusions: </strong>CGG expansions in <i>NOTCH2NLC</i>, <i>LRP12</i> and other OPDM-associated genes do not appear to be a relevant cause of CMT in the UK. The larger size of non-pathogenic intermediate alleles of <i>NOTCH2NLC</i> and <i>LRP12</i> in East Asians could explain their ancestry-specific propensity to further expand into the full pathogenic range.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144618625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"KFLC-index distinguishes multiple sclerosis from anti-myelin oligodendrocyte glycoprotein and aquaporin 4 diseases in a Chinese cohort.","authors":"Hongmei Tan, Xuan Deng, Jingzi ZhangBao, Lei Zhou, Wenqing Wu, Haiqing Li, Yuxin Li, Yuxin Fan, Zhouzhou Wang, Yiqin Xiao, Chongbo Zhao, Ming Guan, Chao Quan, Haoqin Jiang","doi":"10.1136/jnnp-2025-335953","DOIUrl":"https://doi.org/10.1136/jnnp-2025-335953","url":null,"abstract":"<p><strong>Background: </strong>Kappa free light chain (KFLC) index has emerged as a diagnostic biomarker for multiple sclerosis (MS). This study aims to evaluate the diagnostic accuracy of the KFLC-index in Chinese patients with MS, and its capacity to discriminate MS from myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) and neuromyelitis optica spectrum disorders with aquaporin-4 antibody (AQP4+NMOSD).</p><p><strong>Methods: </strong>428 patients tested for KFLC-index were enrolled in the study, including 130 patients with MS, 41 with MOGAD, 25 with AQP4+NMOSD, 123 with other inflammatory or infectious neurological disorders (OIND) and 109 with non-inflammatory neurological disorders (NIND). Their oligoclonal band (OCB) results and clinical data were reviewed.</p><p><strong>Results: </strong>KFLC-index was significantly higher in MS (20.1 (0.9-388.9)) compared with MOGAD (4.8 (0.8-56.1), p=0.003), AQP4+NMOSD (4.5 (1.5-46.4), p=0.011), OIND (2.9 (0.6-238.7), p<0.001) and NIND (1.8 (0.6-110.7), p<0.001). The optimal cut-off value for the KFLC-index to identify MS from the non-selective controls was 8.3, with an accuracy comparable to that of OCB (area under the curve 0.84 vs 0.81, p=0.249). The optimal cut-off values for differentiating MS from MOGAD and AQP4+NMOSD were 18.5 and 12.1, with performance similar to OCB (p=0.756 and 0.064). Combination of KFLC-index and OCB outperformed OCB alone in differentiating MS from non-selective controls and MOGAD (p<0.001 and p=0.044). Female (p=0.009) and higher cerebrospinal fluid leucocyte count (p<0.001) were associated with higher KFLC-index in MS.</p><p><strong>Conclusion: </strong>KFLC-index is a valuable diagnostic tool for differentiating MS from other inflammatory demyelinating diseases.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144618626","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}