Journal of Neurology最新文献

{"title":"Management of hypersensitivity in a patient with late-onset Pompe disease experiencing recurrent infusion-related reactions.","authors":"Daniel H Mendelsohn, Natalia Garcia-Angarita, Andreas Hahn, Benedikt Schoser, Stephan Wenninger","doi":"10.1007/s00415-025-13357-w","DOIUrl":"10.1007/s00415-025-13357-w","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 9","pages":"625"},"PeriodicalIF":4.6,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12425838/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145033565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of spontaneous recanalization of occlusive cervical artery dissection on risk of stroke.","authors":"Lukas Mayer-Suess, Josefin E Kaufmann, Lukas Scherer, Anel Karisik, Malik Galijasevic, Stephanie Mangesius, Elke Ruth Gizewski, Stefan Kiechl, Christopher Traenka, Stefan T Engelter, Michael Knoflach","doi":"10.1007/s00415-025-13371-y","DOIUrl":"10.1007/s00415-025-13371-y","url":null,"abstract":"<p><strong>Introduction: </strong>Occlusive cervical artery dissection (CeAD) is associated with worse patient outcome. The net clinical benefit of acute revascularization measures has to be weighed against the likelihood of spontaneous recanalization. Our aim was to assess the hitherto un-addressed impact of spontaneous recanalization on stroke risk in patients with occlusive CeAD.</p><p><strong>Methods: </strong>MRI verified CeAD patients with initially occlusive CeAD within cohort study that did not undergo acute revascularization measures were assessed. Follow-up data derived from clinical routine and study specific assessments. Outcomes of interest were occurrence of (i) recanalization and (ii) ischemic stroke upstream of CeAD-related occlusion. Adjusted logistic regression analysis addressed the impact of recanalization on said outcomes.</p><p><strong>Results: </strong>97/328 (29.6%) patients had occlusive CeAD and did not undergo acute revascularization treatment. Upon follow-up, 56/97 (57.7%) showed spontaneous recanalization of initially occlusive CeAD. Female sex (OR 0.41[0.18, 0.97]; P = 0.043) and internal carotid artery dissection (OR 0.33[0.14, 0.78]; P = 0.012) were the only factors independently associated with recanalization. Within a median follow-up of 8.2 (1.58, 12.8) years, a total of 18/97 (18.6%) patients suffered ischemic stroke upstream of the initially CeAD-affected vessel. After adjusting for confounders, spontaneous recanalization was independently associated with lower rates of cerebral ischemia upon follow-up (OR 0.28[0.09, 0.90]; P = 0.032), most notably also independent of type of antithrombotic treatment.</p><p><strong>Conclusions: </strong>Spontaneous recanalization in occlusive CeAD is associated with lower rates of stroke upon follow-up. These results indicate that persistent CeAD-related occlusion remains a risk-factor for recurrent ischemic events, thus calling for future trials addressing optimal medical treatment.</p><p><strong>Trial registration: </strong>N/A.</p><p><strong>Guarantor: </strong>Lukas Mayer-Suess.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 9","pages":"627"},"PeriodicalIF":4.6,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12426123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145040461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autoimmune encephalitis with Anti-mGluR1 antibodies: a comprehensive review.","authors":"Yun Chen, Lisha Xie, Hongmei Cui, Yali Zhang, Chaoer Wu, Wei Qian","doi":"10.1007/s00415-025-13356-x","DOIUrl":"10.1007/s00415-025-13356-x","url":null,"abstract":"<p><p>Anti-mGluR1 encephalitis is a rare autoimmune disorder manifesting with cerebellar syndrome with varying levels of severity. However, limited data exist regarding the clinical features and treatment strategies for patients suffering from encephalitis associated with anti-mGluR1 antibodies. Herein, we comprehensively review and discuss clinical features of anti-mGluR1 encephalitis to enhance our understanding of this rare disorder. Our protocol was developed in accordance with PRISMA guidelines and is registered with the PROSPERO (identification: RD420251101607). To identify potentially relevant literature, we conducted a thorough search of the following bibliographic databases: PubMed, Web of Science, the Cochrane Central Register, and China National Knowledge Infrastructure. The search strategy yielded 402 articles, of which 23 met the inclusion criteria for our systematic review. These 23 articles, comprising 3 case series and 20 case reports, described 44 patients with anti-mGluR1 encephalitis. We independently extracted data on the following variables: publication, year, location, age, gender, associated malignancies, prodromal symptoms, clinical manifestations on the initial presentation, brain magnetic resonance imaging (MRI) findings, cerebrospinal fluid (CSF) testing, treatment, duration of last follow-up, and clinical outcome. From the current systematic review, cerebellar ataxia serves as the most prominent clinical manifestation in patients with anti-mGluR1 encephalitis. Furthermore, the proportion of patients receiving first-line immunotherapy was greater in the favorable prognosis group compared to the poor prognosis group. We underscore the importance of early immunotherapy to prevent irreversible cerebellar damage.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 9","pages":"623"},"PeriodicalIF":4.6,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12423198/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145033582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vertebral artery compression syndrome: dual insights from angiography and video-oculography.","authors":"David Hale, Jing Tian, Caline Azzi, Phillippe Gailloud, Amir Kheradmand","doi":"10.1007/s00415-025-13369-6","DOIUrl":"https://doi.org/10.1007/s00415-025-13369-6","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 9","pages":"628"},"PeriodicalIF":4.6,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145040484","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correlation between metabolism and neuroinflammation of astrocytes in drug-resistant epilepsy.","authors":"Xiao-Xiao Yu, Da Xu, Shuang Chen, Qiang Liu, Hai-Jun Wang, Man Li","doi":"10.1007/s00415-025-13241-7","DOIUrl":"https://doi.org/10.1007/s00415-025-13241-7","url":null,"abstract":"<p><p>Epilepsy is a chronic neurological disorder. Although anti-seizure medications (ASMs) are currently primary treatment for epilepsy, about one-third of patients develop drug resistant epilepsy (DRE). Relevant studies have found that astrocytes are not only involved in regulating the metabolism of neuronal networks, but are also closely associated with the development of neuroinflammation, both of which are related to the development of DRE. Therefore, we performed a deep exploration of the relationship between astrocytes abnormal metabolism and neuroinflammation, hoping to provide new insights into therapeutic approaches for DRE.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 9","pages":"624"},"PeriodicalIF":4.6,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145033609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy and safety of respiratory strength and endurance training in patients with myotonic dystrophy type 1 (DM1): a randomized controlled trial.","authors":"Stephan Wenninger, Eva Heidsieck, Corinna Wirner-Piotrowski, Marko Mijic, Natalia Garcia-Angarita, Kristina Gutschmidt, Daniel H Mendelshohn, Benedikt Schoser","doi":"10.1007/s00415-025-13362-z","DOIUrl":"10.1007/s00415-025-13362-z","url":null,"abstract":"<p><strong>Background: </strong>Myotonic dystrophy type 1 (DM1) is a multisystem disorder characterized by progressive muscle weakness, including the respiratory muscles, which often leads to ventilatory insufficiency. Despite its clinical relevance, high-quality controlled data on the effects of respiratory muscle training in DM1 are limited.</p><p><strong>Objective: </strong>To evaluate the safety and effectiveness of long-term, home-based inspiratory muscle training (IMT) using a commercially available inspiratory training device in genetically confirmed DM1 patients.</p><p><strong>Methods: </strong>This was a single-center, randomized controlled trial involving three parallel groups: inspiratory strength training, inspiratory endurance training, and a control group without training. Patients were followed over 9 months. The primary outcome was the change in maximal inspiratory pressure (MIP) after nine months. Secondary outcomes included forced vital capacity, maximal expiratory pressure, capillary blood gases, a 6-min walk test, and validated patient-reported outcomes. Adherence and safety were monitored.</p><p><strong>Results: </strong>Twenty-six participants completed the study. The intervention was safe, with no serious adverse events. Significant improvements in primary outcome MIP were observed in both intervention groups compared to control (p < 0.05), with the strength group showing the greatest benefit. Secondary outcomes improved significantly in the endurance group. Adherence to the training exceeded 80% across all groups. Baseline differences in MIP, FVC, and FEV1 were observed and considered in the analysis.</p><p><strong>Conclusion: </strong>Regular IMT is a feasible, safe, and effective intervention for improving respiratory function in patients with DM1. Regular RMT can enhance respiratory muscle strength and endurance and should be incorporated into the multidisciplinary care of DM1 patients showing initial signs of restrictive ventilatory insufficiency.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 9","pages":"626"},"PeriodicalIF":4.6,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12426088/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145033589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors associated with early response to efgartigimod in patients with generalized myasthenia gravis: a multicenter retrospective observational study.","authors":"Wenjia Zhu, Yuping Chen, Cong Tian, Jingsi Wang, Xinmei Wen, Hua Lou, Yuting Jiang, Li Di, Shanshan Gu, Yan Wang, Yaye Wang, Yan Lu, Min Wang, Min Xu, Hai Chen, Yuying Zhao, Guoyan Qi, Yuwei Da","doi":"10.1007/s00415-025-13367-8","DOIUrl":"10.1007/s00415-025-13367-8","url":null,"abstract":"<p><strong>Background and purpose: </strong>Efgartigimod has demonstrated efficacy in generalized myasthenia gravis (gMG) in both clinical trials and real-world studies. However, factors influencing early response have been less reported. This study aimed to evaluate the efficacy of efgartigimod in a multicenter gMG cohort and to identify the clinical factors associated with early therapeutic response.</p><p><strong>Methods: </strong>This multicenter, real-world, retrospective, observational study included 115 gMG patients administered efgartigimod across four myasthenia gravis (MG) centers. Responders were defined as patients with a ≥ 2-point Myasthenia Gravis Activities of Daily Living (MG-ADL) or ≥ 3-point Quantitative Myasthenia Gravis Score (QMG) score reduction, while early responders were those achieving score reductions after the first infusion. Subgroup analyses were conducted based on immunosuppressant (IST) use. Logistic regression analysis was performed to identify factors associated with response to first efgartigimod infusion according to MG-ADL or QMG scores reduction. Variables were compared between responders and non-responders to identify early response factors.</p><p><strong>Results: </strong>After the first infusion, 72.5% of patients achieved improvement in MG-ADL and 60.5% in QMG, with these rates increasing to 93.3% and 87.5% respectively by the fourth infusion. Efgartigimod demonstrated the most significant improvement in bulbar, limb, and ocular symptoms; however, there was no statistically significant improvement in respiratory symptoms occurred during the initial 4-week treatment period. Multivariate logistic analysis showed that short disease duration and high MG-ADL bulbar score at baseline indicated early response. High QMG bulbar score at baseline also indicated early response. Efficacy was independent of IST use. No patients discontinued treatment due to severe adverse events; minor side effects were not recorded.</p><p><strong>Conclusions: </strong>Efgartigimod demonstrated robust efficacy in gMG patients. Early response was linked to shorter disease duration and severe bulbar symptoms, which promotes the identification of patients who are likely to benefit quickly from efgartigimod.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 9","pages":"622"},"PeriodicalIF":4.6,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12417274/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145023565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of exercise on fatigue and quality of life in multiple sclerosis: a network meta-analysis and systematic review.","authors":"Jiangxi Yang, Huangyan Li, Yeting Zhang, Shiliang Hu, Zuoyin Yu","doi":"10.1007/s00415-025-13368-7","DOIUrl":"10.1007/s00415-025-13368-7","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to evaluate the effects of various physical therapy interventions on fatigue and quality of life in patients with multiple sclerosis (MS) using a network meta-analysis of randomized controlled trials (RCTs).</p><p><strong>Methods: </strong>A comprehensive literature search was conducted in PubMed, Web of Science, and Cochrane databases through April 1, 2025. Eligible RCTs compared different exercise interventions in MS patients, focusing on fatigue and quality of life outcomes. Methodological quality was assessed using the Cochrane Risk of Bias tool. Standardized mean difference (SMD) was used as the effect size, and surface under the cumulative ranking curve (SUCRA) was applied to rank interventions. Subgroup and heterogeneity analyses were also performed.</p><p><strong>Results: </strong>This network meta-analysis included 31 randomized controlled trials involving 1,232 patients with multiple sclerosis. Exercise interventions were overall superior to conventional treatment in alleviating fatigue, with resistance training showing the most significant effect (SMD = - 0.91, p = 0.023). Subgroup analyses indicated that resistance training significantly reduced fatigue in both relapsing-remitting MS and female patients. Interventions lasting more than eight weeks, particularly resistance training and hippotherapy, demonstrated greater benefits. No overall improvement in quality of life was observed; however, female patients experienced significant improvement following resistance training.</p><p><strong>Conclusions: </strong>Resistance training appears to be the most effective intervention for improving fatigue and quality of life in MS patients, especially in women and during long-term programs. Hippotherapy and coordination training also show promise but require further high-quality trials for validation.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 9","pages":"621"},"PeriodicalIF":4.6,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145015665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Construct validity, intrarater and interrater reliability of the Italian version of the systematic screening of handwriting difficulties (SOS) test in people with Parkinson's disease.","authors":"Davide Corbetta, Elisabetta Sarasso, Andrea Gardoni, Lucia Zenere, Roberta Balestrino, Bouwien Smits-Engelsman, Elisa Pelosin, Massimo Filippi, Federica Agosta","doi":"10.1007/s00415-025-13365-w","DOIUrl":"10.1007/s00415-025-13365-w","url":null,"abstract":"<p><strong>Background: </strong>The \"Systematic Screening of Handwriting Difficulties in Parkinson's Disease\" (SOS) test is the only tool specifically designed to evaluate handwriting in people with Parkinson's Disease (pwPD). It is language specific.</p><p><strong>Objective: </strong>To assess the construct validity, intrarater and interrater reliability of the Italian version of the SOS test.</p><p><strong>Methods: </strong>Thirty-five pwPD and 15 healthy controls (HC) completed the Italian version of the SOS test. Participants copied an Italian text for 5 min on blank paper using a pen. Two independent raters evaluated writing speed, letter size, and handwriting quality according to the SOS test criteria. Correlations between the Italian SOS test scores, fine motor skills, and PD characteristics were analysed using Spearman's Rho correlation coefficient (ρ). Group comparisons were adjusted for education level using ANCOVA. Intrarater and interrater reliability were calculated using the intraclass correlation coefficient (ICC) or Kendall's Tau (Kτ) coefficient depending on data distribution.</p><p><strong>Results: </strong>The Italian version of the SOS test showed significant correlations between writing speed and fine motor skills in pwPD (ρ = 0.40; p = 0.016). PwPD showed significantly smaller letter size (η²p = 0.15; p = 0.006), lower writing speed (η²p = 0.18; p = 0.002), and lower writing quality (η²p = 0.12; p = 0.015) compared to HC. Intrarater reliability was excellent (ICCs > 0.990 and Kτ > 0.762 for pwPD; ICCs > 0.923 for HC), as was interrater reliability (ICCs > 0.860 and Kτ = 0.999 for pwPD; ICCs > 0.925 for HC).</p><p><strong>Conclusion: </strong>The Italian version of the SOS test is a valid and reliable tool for clinically assessing handwriting in Italian-speaking pwPD.</p><p><strong>Clinical trial registration: </strong>https://clinicaltrials.gov/ : NCT04876352, prospectively registered on May 6th 2021.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 9","pages":"620"},"PeriodicalIF":4.6,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145015675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Wartime stress and relapse risk in people with multiple sclerosis: a prospective cohort study.","authors":"Roy Aloni, Carmit Dror, Tamar Barazani, Alon Kalron","doi":"10.1007/s00415-025-13366-9","DOIUrl":"10.1007/s00415-025-13366-9","url":null,"abstract":"<p><strong>Introduction: </strong>Psychological stress has been proposed as a trigger for disease activity in multiple sclerosis (MS), but findings have been inconsistent. While prior research has focused largely on chronic stressors, little is known about how people with MS (pwMS) cope with acute, large-scale stress events such as war.</p><p><strong>Objective: </strong>Examine the effects of wartime stress following the October 7, 2023 attack on disease activity in pwMS, and to assess whether emotional factors are associated with relapse risk during this period.</p><p><strong>Methods: </strong>Clinical data on relapses and disability progression were collected retrospectively for the year preceding October 7, 2023, and prospectively for the year following that date. Participants completed standardized questionnaires assessing stress, anxiety, depression, fatigue, and coping flexibility between April and June 2024.</p><p><strong>Results: </strong>From the 145 pwMS included in the prospective study, 38% experienced at least one relapse in the post-war year, compared to 23% in the year prior. Perceived fatigue was significantly higher among those who experienced relapses, while anxiety, depression, and perceived stress were not significantly associated with relapse frequency. Coping flexibility did not moderate the relationship between psychological distress and relapse count. No significant change was observed in disability progression across the two time periods.</p><p><strong>Conclusions: </strong>Wartime conditions were associated with increased relapse activity in pwMS. Fatigue may serve as a sensitive marker of disease vulnerability during stress. Coping flexibility, as measured in this study, did not appear to buffer the effects of psychological distress on relapse risk.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 9","pages":"619"},"PeriodicalIF":4.6,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12420726/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145023555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}