Journal of Neurology最新文献

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Magnetic resonance imaging vs computed tomography for baseline imaging evaluation in acute basilar artery occlusion. 磁共振成像与计算机断层扫描对急性基底动脉闭塞的基线成像评价。
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-10-18 DOI: 10.1007/s00415-026-14159-4
Feiyang Gao, Thanh N Nguyen, Anmo Wang, Rui Li, Pengfei Xu, Yiran Chen, Raul G Nogueira, Shaokuan Fang, Wei Hu
{"title":"Magnetic resonance imaging vs computed tomography for baseline imaging evaluation in acute basilar artery occlusion.","authors":"Feiyang Gao, Thanh N Nguyen, Anmo Wang, Rui Li, Pengfei Xu, Yiran Chen, Raul G Nogueira, Shaokuan Fang, Wei Hu","doi":"10.1007/s00415-026-14159-4","DOIUrl":"https://doi.org/10.1007/s00415-026-14159-4","url":null,"abstract":"<p><strong>Background: </strong>The optimal imaging modality, magnetic resonance imaging (MRI) or computed tomography (CT), for identifying good treatment candidates among patients with acute basilar-artery occlusion (BAO) remains unclear.</p><p><strong>Methods: </strong>This was a post hoc analysis of the ATTENTION trial. Patients were categorized into MRI or CT groups according to the baseline imaging modality. The primary outcome was mRS 0-3 at 90 days. The secondary outcomes included mRS score shift on an ordinal scale, early neurological deterioration, time from stroke onset to arterial puncture, and time from onset to randomization. The safety outcome was mortality within 90 days. Clinical outcomes and workflow times were compared between the two groups.</p><p><strong>Results: </strong>Among 340 patients (CT: n = 277; MRI: n = 63), baseline imaging was not significantly associated with 90-day mRS 0-3 in the overall cohort (OR 0.99, 95% CI 0.50-1.95; P = 0.976). It remained highly consistent across both the endovascular treatment and best medical management subgroups. Baseline MRI assessment was not associated with significant workflow delays compared with CT, including time from stroke onset to randomization (mean difference [MD] 5.23 min; P = 0.843) and time to puncture (MD 13.16 min; P = 0.701). Furthermore, the association between imaging modality and outcomes was consistent across different time windows.</p><p><strong>Discussion: </strong>In patients with acute BAO, we did not observe evidence supporting the preferential use of MRI over CT as the primary imaging strategy for patient selection. Conventional imaging appears sufficient as a first-line tool for selecting patients in clinical practice.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 11","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149220203","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}
引用次数: 0
Genetic correlates of corticobasal degeneration: a systematic review and meta-analysis. 皮质基底变性的遗传相关性:一项系统回顾和荟萃分析。
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-10-17 DOI: 10.1007/s00415-026-14218-w
Jacob Thompson, Paula K Johnson
{"title":"Genetic correlates of corticobasal degeneration: a systematic review and meta-analysis.","authors":"Jacob Thompson, Paula K Johnson","doi":"10.1007/s00415-026-14218-w","DOIUrl":"10.1007/s00415-026-14218-w","url":null,"abstract":"<p><strong>Background: </strong>Corticobasal degeneration (CBD) is a primary 4-repeat tauopathy marked by progressive motor, cognitive, and behavioral decline, substantial clinicopathologic heterogeneity, and few disease-modifying therapeutic options. Although MAPT variation has long been implicated in CBD susceptibility, the full genetic architecture of CBD has remained highly fragmented and poorly synthesized.</p><p><strong>Methods: </strong>This systematic review and meta-analysis was conducted in accordance with the PRISMA guidelines to identify studies evaluating genetic associations with CBD through August 2026. Eligible studies reported effect estimates for MAPT haplotypes, MAPT subhaplotypes, MAPT SNPs, or non-MAPT candidate loci. Risk of bias was assessed using ROBINS-E, and pooled associations were calculated using inverse-variance meta-analysis. Twenty-two studies published between 2001 and 2025 were included.</p><p><strong>Results: </strong>The most consistent associations involved MAPT haplotype architecture, with H1 and H1/H1 showing increased CBD susceptibility and H2 showing a protective association. Among MAPT H1 subhaplotypes, H1c, H1d, and H1q demonstrated significant risk associations, whereas other subhaplotypes showed less significant effects. MAPT SNP-level associations were generally modest, though several variants showed small yet significant protective or risk-related effects. Among non-MAPT loci, C9orf72, MOBP, and KIF13B were associated with CBD risk.</p><p><strong>Conclusions: </strong>These results indicate that genetic susceptibility to CBD is dominated by MAPT architecture; however, significant heterogeneity within and beyond MAPT exists, with significant contributions from select subhaplotypes, SNPs, and non-MAPT loci. Overall, these findings support tau-centered genetic vulnerability while highlighting candidate pathways relevant to CBD pathogenesis, glial biology, and broader neurodegenerative vulnerability, providing a foundation for future biomarker, mechanistic, and precision-medicine studies.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 11","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149216438","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}
引用次数: 0
Brain imaging in dystrophinopathies. 肌营养不良症的脑成像。
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-10-17 DOI: 10.1007/s00415-026-14215-z
Marion Lancien, Nicolas Leboucq, Isabelle Desguerre, François Rivier, Cyrille Vaillend
{"title":"Brain imaging in dystrophinopathies.","authors":"Marion Lancien, Nicolas Leboucq, Isabelle Desguerre, François Rivier, Cyrille Vaillend","doi":"10.1007/s00415-026-14215-z","DOIUrl":"https://doi.org/10.1007/s00415-026-14215-z","url":null,"abstract":"<p><p>Duchenne and Becker muscular dystrophies (DMD, BMD) are caused by genetic variants in the DMD gene coding dystrophin proteins. In addition to the impairment of muscular function, these patients also present frequent cognitive and neuropsychiatric disorders due to impaired expression of several brain dystrophins: Dp427, Dp140 and Dp71. Cerebral imaging has shed new light on the impact of dystrophinopathies on brain structure, function, and connectivity. We review the brain imaging results obtained in patients and divers animal models, showing presence of mild cortical atrophy, slight modifications of structures volumes, decreased cerebral blood flood, white matter microstructure alterations, brain hypometabolism, altered connectivity, and an abnormal cerebral response to stress. We further discuss the putative progression of cerebral disorders, and their variable severity when Dp140 expression is affected in addition to that of Dp427. Some correlations between imaging parameters and cognitive and psychological impairments have been reported but remain to be confirmed.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 11","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149216373","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}
引用次数: 0
Clinical phenotype and treatment response in AQP4-IgG-positive NMOSD and MOGAD: insights from the Italian I-MS&RD registry. aqp4 - igg阳性NMOSD和MOGAD的临床表型和治疗反应:来自意大利I-MS&RD注册的见解
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-10-16 DOI: 10.1007/s00415-026-14185-2
Carla Tortorella, Alessandro Cruciani, Francesco Patti, Marco Capobianco, Pietro Iaffaldano, Massimiliano Mirabella, Matilde Inglese, Luisa Pastò, Shalom Haggiag, Luca Prosperini, Serena Ruggieri, Roberta Fantozzi, Matteo Foschi, Giovanna De Luca, Marika Vianello, Giuseppe Salemi, Sara Montepietra, Diana Ferraro, Paola Cavalla, Giorgia Teresa Maniscalco, Erica Curti, Alessandra Lugaresi, Girolama Alessandra Marfia, Paola Valentino, Alessia Di Sapio, Jessica Frau, Sabrina Realmuto, Salvatore Cottone, Maria A Rocca, Elena Colombo, Paola Perini, Sebastiano Crisafulli, Maria Teresa Ferrò, Silvia Romano, Alessandra Protti, Anna Chiara Landi, Maria Gabriella Coniglio, Pietro Annovazzi, Livia Pasquali, Elisabetta Ferraro, Ilaria Pesci, Marco Peresson, Roberta Lanzillo, Rocco Totaro, Giacomo Lus, Stefania Maria Bova, Roberto Cantello, Luigi Zuliani, Daniela Cargnelutti, Luca Massacesi, Ardito Bonaventura, Maria Trotta, Alberto Gajofatto, Umberto Aguglia, Giuseppe Santuccio, Maura Chiara Danni, Alessandro Burlina, Raffaella Clerici, Paola Gazzola, Sebastiano Bucello, Matteo Pizzorno, Paolo Barone, Antonella Conte, Giuseppe Santangelo, Fabiana Marinelli, Carlo Avolio, Alessandro Leone, Francesca Rossi, Maura Frigo, Nerina Mascoli, Marco Carrozzi, Maria Buccafusca, Francesco Sica, Augusto Rini, Mario Falcini, Giuseppe Ribizzi, Maria Letizia Bartolozzi, Claudio Gasperini, Maria Trojano, Massimo Filippi, Maria Pia Amato
{"title":"Clinical phenotype and treatment response in AQP4-IgG-positive NMOSD and MOGAD: insights from the Italian I-MS&RD registry.","authors":"Carla Tortorella, Alessandro Cruciani, Francesco Patti, Marco Capobianco, Pietro Iaffaldano, Massimiliano Mirabella, Matilde Inglese, Luisa Pastò, Shalom Haggiag, Luca Prosperini, Serena Ruggieri, Roberta Fantozzi, Matteo Foschi, Giovanna De Luca, Marika Vianello, Giuseppe Salemi, Sara Montepietra, Diana Ferraro, Paola Cavalla, Giorgia Teresa Maniscalco, Erica Curti, Alessandra Lugaresi, Girolama Alessandra Marfia, Paola Valentino, Alessia Di Sapio, Jessica Frau, Sabrina Realmuto, Salvatore Cottone, Maria A Rocca, Elena Colombo, Paola Perini, Sebastiano Crisafulli, Maria Teresa Ferrò, Silvia Romano, Alessandra Protti, Anna Chiara Landi, Maria Gabriella Coniglio, Pietro Annovazzi, Livia Pasquali, Elisabetta Ferraro, Ilaria Pesci, Marco Peresson, Roberta Lanzillo, Rocco Totaro, Giacomo Lus, Stefania Maria Bova, Roberto Cantello, Luigi Zuliani, Daniela Cargnelutti, Luca Massacesi, Ardito Bonaventura, Maria Trotta, Alberto Gajofatto, Umberto Aguglia, Giuseppe Santuccio, Maura Chiara Danni, Alessandro Burlina, Raffaella Clerici, Paola Gazzola, Sebastiano Bucello, Matteo Pizzorno, Paolo Barone, Antonella Conte, Giuseppe Santangelo, Fabiana Marinelli, Carlo Avolio, Alessandro Leone, Francesca Rossi, Maura Frigo, Nerina Mascoli, Marco Carrozzi, Maria Buccafusca, Francesco Sica, Augusto Rini, Mario Falcini, Giuseppe Ribizzi, Maria Letizia Bartolozzi, Claudio Gasperini, Maria Trojano, Massimo Filippi, Maria Pia Amato","doi":"10.1007/s00415-026-14185-2","DOIUrl":"https://doi.org/10.1007/s00415-026-14185-2","url":null,"abstract":"<p><strong>Background: </strong>Neuromyelitis optica spectrum disorders (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) are rare entities distinct from multiple sclerosis. We leveraged the Italian Multiple Sclerosis and Related Disorders (I-MS&RD) Registry to characterise clinical and treatment features of AQP4-positive NMOSD and MOGAD, identify predictors of rituximab treatment response, and assess relapse outcomes across treatment classes.</p><p><strong>Methods: </strong>We identified 664 patients from 97 Italian centres: 406 with AQP4+ NMOSD and 258 with MOGAD. Demographic, clinical, and treatment characteristics were compared between groups. Time to first relapse was assessed according to treatment class, comparing monoclonal antibodies with other therapies. Predictors of relapse-free status were evaluated using multivariable logistic regression.</p><p><strong>Results: </strong>Female sex was more common in AQP4+ NMOSD than in MOGAD patients (p < 0.001), whereas paediatric onset was more common in MOGAD (p < 0.001). Patients with AQP4+ NMOSD had greater disability at diagnosis than patients with MOGAD (p < 0.001). Rituximab was the most prescribed therapy. Treatment with monoclonal antibodies was associated with longer relapse-free survival in AQP4+ NMOSD (log-rank p = 0.021), but not in MOGAD. In AQP4+ NMOSD patients treated with rituximab, male sex and myelitis at onset were independently associated with a lower likelihood of remaining relapse-free (OR 0.37, 95% CI 0.14-0.94; p = 0.038 and OR 0.36, 95% CI 0.15-0.83; p = 0.017, respectively). In contrast, among rituximab-treated patients with MOGAD, optic neuritis at onset was the only predictor of relapse-free status at follow-up (OR 0.20, 95% CI 0.04-0.90; p = 0.038).</p><p><strong>Conclusions: </strong>This nationwide, large-scale analysis, derived from the newly established I-MS&RD Registry, characterises a large Italian cohort of patients with AQP4+ NMOSD and MOGAD, identifies clinically relevant predictors of response to rituximab, and provides real-world evidence on treatment-associated relapse outcomes in these two disorders.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 11","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149194673","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}
引用次数: 0
Risk of early stroke recurrence and procedural stroke or death in carotid near occlusion patients scheduled for carotid endarterectomy. 颈动脉内膜切除术的颈动脉近闭塞患者早期卒中复发、程序性卒中或死亡的风险
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-10-16 DOI: 10.1007/s00415-026-14198-x
Henrietta Törmänen, Suvi Koskinen, Krista Nuotio, Riikka Tulamo, Pirkka Vikatmaa, Lauri Soinne, Perttu J Lindsberg, Petra Ijäs
{"title":"Risk of early stroke recurrence and procedural stroke or death in carotid near occlusion patients scheduled for carotid endarterectomy.","authors":"Henrietta Törmänen, Suvi Koskinen, Krista Nuotio, Riikka Tulamo, Pirkka Vikatmaa, Lauri Soinne, Perttu J Lindsberg, Petra Ijäs","doi":"10.1007/s00415-026-14198-x","DOIUrl":"10.1007/s00415-026-14198-x","url":null,"abstract":"<p><strong>Background: </strong>Carotid near occlusion (NO) refers to distal internal carotid artery (ICA) narrowing caused by proximal carotid stenosis (CS). Stroke risk and optimal management of NO remain controversial. Our aim was to determine the prevalence of NO severities, rates of preoperative ischemic cerebrovascular events (iCVEs), 30-day procedural stroke and death, and hyperperfusion syndrome in patients with NO in a prospective CS cohort undergoing carotid endarterectomy (CEA).</p><p><strong>Methods: </strong>We reanalyzed posthoc CTAs from 443 symptomatic and asymptomatic CS patients. Subtle NO (s-NO) was defined as a 1.0-mm difference in distal luminal diameter between ipsilateral and contralateral ICA. NO with full collapse (fc-NO) was defined as ≤2.0 mm and/or an ipsilateral-to-contralateral ICA diameter ratio ≤0.42. Conventional stenosis was defined as CS >50% using NASCET criteria. Rates of preoperative iCVEs and 30-day procedural stroke and death were compared between s-NO, fc-NO, and conventional stenosis.</p><p><strong>Results: </strong>NO occurred in 143 (32%) patients: 124 (87%) s-NO and 19 (13%) fc-NO. NO was not significantly associated with increased preoperative iCVEs (7.6% vs 13%, OR 1.82, 95%Cl 0.96-3.47) or procedural stroke or death (5.6% vs 3.3%, OR 1.73, 95%Cl 0.67-4.50) compared with conventional stenosis. After CEA, hyperperfusion syndrome was frequent in NO patients (7.0% vs 2.7%, OR 2.8, 95% CI1.1-7.1). One patient developed fatal hyperperfusion-related intracranial hemorrhage.</p><p><strong>Conclusion: </strong>CTA-detected NO is common, particularly in subtle forms, and important for stenosis assessment and management. Unlike earlier studies, NO was not associated with increased preoperative or procedural stroke or death, but hyperperfusion syndrome after CEA was more frequent.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 11","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13675380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149207046","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}
引用次数: 0
Tenecteplase, alteplase, and endovascular thrombectomy in extended-window acute ischemic stroke with intracranial large-vessel occlusion: a Bayesian network meta-analysis. 替替普酶、阿替普酶和血管内取栓治疗伴颅内大血管闭塞的急性缺血性卒中:贝叶斯网络荟萃分析
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-10-16 DOI: 10.1007/s00415-026-14201-5
Wenkui Li, Chuyue Wu, Rong Deng, Jie Zhou, Li Li, Yong Liu, Shengli Chen
{"title":"Tenecteplase, alteplase, and endovascular thrombectomy in extended-window acute ischemic stroke with intracranial large-vessel occlusion: a Bayesian network meta-analysis.","authors":"Wenkui Li, Chuyue Wu, Rong Deng, Jie Zhou, Li Li, Yong Liu, Shengli Chen","doi":"10.1007/s00415-026-14201-5","DOIUrl":"10.1007/s00415-026-14201-5","url":null,"abstract":"<p><strong>Background and purpose: </strong>The comparative effects of intravenous thrombolytic agents, endovascular thrombectomy (EVT), and bridging therapy in imaging-selected patients with acute ischemic stroke treated beyond 4.5 hours remain uncertain. We compared these strategies while distinguishing confirmed large-vessel occlusion (LVO) evidence from broader mixed populations.</p><p><strong>Methods: </strong>We searched PubMed, Embase, Web of Science, and the Cochrane Library for randomized trials evaluating reperfusion treatments administered 4.5 to 24 hours after stroke onset or last known well. The primary network included trials requiring confirmed intracranial LVO or basilar artery occlusion (BAO). An anterior-circulation LVO network and an all-available network were examined as sensitivity and exploratory analyses. Bayesian random-effects consistency models estimated odds ratios (ORs) with 95% credible intervals (CrIs). The primary outcome was functional independence, defined as a modified Rankin Scale score of 0 to 2 at 90 days.</p><p><strong>Results: </strong>Fifteen randomized trials were included, of which 8 contributed to the primary confirmed LVO/BAO network. Compared with placebo or best medical care, EVT significantly improved functional independence (OR, 2.93 [95% CrI, 1.40-6.53]) and excellent functional outcome, defined as mRS 0 to 1 (OR, 2.22 [95% CrI, 1.30-4.11]), reduced 90-day mortality (OR, 0.71 [95% CrI, 0.50-0.98]), and increased trial-defined recanalization or reperfusion at approximately 24 hours (OR, 5.27 [95% CrI, 1.83-16.04]); sICH was also increased (OR, 2.65 [95% CrI, 1.28-5.81]). Compared with EVT, tenecteplase plus EVT showed numerically favorable but statistically inconclusive estimates for functional independence (OR, 1.10 [95% CrI, 0.34-3.52]) and excellent outcome (OR, 1.16 [95% CrI, 0.52-2.64]). Direct pairwise analyses of 2 trials were similarly inconclusive. Tenecteplase alone did not show clear differences from placebo or best medical care. Findings were directionally consistent in the anterior-circulation sensitivity and all-available exploratory networks.</p><p><strong>Conclusions: </strong>Among imaging-selected patients with confirmed intracranial LVO or BAO treated 4.5 to 24 hours after onset or last known well, EVT had the most consistent evidence of benefit versus placebo or best medical care. Tenecteplase plus EVT showed favorable but imprecise estimates, and neither network nor direct pairwise analyses established superiority over EVT alone. The incremental benefit of bridging tenecteplase remains uncertain.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 11","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149207103","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}
引用次数: 0
Retinal layer thickness as a potential marker for future cardiovascular events - a UK Biobank cohort study using optical coherence tomography. 视网膜层厚度作为未来心血管事件的潜在标志——英国生物银行使用光学相干断层扫描的队列研究。
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-10-15 DOI: 10.1007/s00415-026-14175-4
Martin Hänsel, Julian Deseoe, Lisa Herzog, Neda Davoudi, Veronika Kana, Björn Menze, Beate Sick, Susanne Wegener
{"title":"Retinal layer thickness as a potential marker for future cardiovascular events - a UK Biobank cohort study using optical coherence tomography.","authors":"Martin Hänsel, Julian Deseoe, Lisa Herzog, Neda Davoudi, Veronika Kana, Björn Menze, Beate Sick, Susanne Wegener","doi":"10.1007/s00415-026-14175-4","DOIUrl":"10.1007/s00415-026-14175-4","url":null,"abstract":"<p><strong>Aims: </strong>Cardiovascular disease (CVD) is the leading cause of death worldwide. For CVD prevention, effective screening is needed to identify high-risk individuals. Optical coherence tomography (OCT) provides a noninvasive, low-cost \"quick look\" into the brain and has recently shown thinning of certain retinal layers in patients with previous CVD. We explored if OCT-derived retinal layer thicknesses could predict future major adverse cardiovascular events (MACE: stroke/myocardial infarction/cardiovascular death).</p><p><strong>Methods: </strong>In this retrospective cohort study, data of 51,293 participants from the UK Biobank were analyzed. We used cause-specific hazard models to evaluate the association of retinal nerve fiber layer thickness (RNFL) and ganglion cell-inner plexiform layer (GCIPL) thickness with incident MACE, adjusting models for cardiovascular risk factors (CVRF) and performed subanalyses for association with incident stroke and myocardial infarction.</p><p><strong>Results: </strong>Median follow-up time was 14.7 years. Both RNFL thickness (aHR 0.92, 95% CI 0.89-0.96, p < 0.001) and GCIPL thickness (aHR 0.96, 95% CI 0.92-1.00, p = 0.04) were statistically associated with incident MACE in cause-specific hazard models adjusted for CVRF. Interestingly, RNFL thickness was more strongly associated with incident myocardial infarction (aHR 0.94, 95% CI 0.88-0.99, p = 0.02) while GCIPL was more strongly associated with incident stroke (aHR 0.90, 95% CI 0.83-0.96, p = 0.003).</p><p><strong>Conclusion: </strong>RNFL and GCIPL thicknesses are associated with future MACE, even after adjusting for CVRF. OCT-measured retinal layer thickness could contribute to the assessment of cardiovascular risk.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 11","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13672466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149194668","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}
引用次数: 0
Fucose supplementation as a novel treatment approach for GLUT1 deficiency syndrome. 焦点补充作为治疗GLUT1缺乏症的新方法。
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-10-15 DOI: 10.1007/s00415-026-14211-3
Julia Moomann, Manfred Fobker, Clemens Gardemann, Petra Schulze Westhoff, Hudson H Freeze, Bobby G Ng, Oliver Schwartz, Otfried Debus, Pankaj K Singh, Matthieu G Colpaert, Giancarlo G Valdivia, Olivia D'Agati, Matthew S Gentry, Julien Park, Thorsten Marquardt
{"title":"Fucose supplementation as a novel treatment approach for GLUT1 deficiency syndrome.","authors":"Julia Moomann, Manfred Fobker, Clemens Gardemann, Petra Schulze Westhoff, Hudson H Freeze, Bobby G Ng, Oliver Schwartz, Otfried Debus, Pankaj K Singh, Matthieu G Colpaert, Giancarlo G Valdivia, Olivia D'Agati, Matthew S Gentry, Julien Park, Thorsten Marquardt","doi":"10.1007/s00415-026-14211-3","DOIUrl":"10.1007/s00415-026-14211-3","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 11","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13672255/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149194649","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}
引用次数: 0
Antiviral and inflammatory immune signatures in anti-CD20-treated multiple sclerosis: a cross-sectional study. 抗cd20治疗多发性硬化症的抗病毒和炎症免疫特征:一项横断面研究
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-10-15 DOI: 10.1007/s00415-026-14202-4
Silvia D'Orso, Mario Picozza, Gisella Guerrera, Alice Verdiani, Marta Pirronello, Andrea Misiti, Elena Olivieri, Silvia Corbisiero, Daniela F Angelini, Arcangela Ingrascì, Emiliano Giardina, Serena Ruggieri, Carla Tortorella, Claudio Gasperini, Maria Chiara Buscarinu, Marco Salvetti, Bruno Gran, Luca Battistini, Giovanna Borsellino
{"title":"Antiviral and inflammatory immune signatures in anti-CD20-treated multiple sclerosis: a cross-sectional study.","authors":"Silvia D'Orso, Mario Picozza, Gisella Guerrera, Alice Verdiani, Marta Pirronello, Andrea Misiti, Elena Olivieri, Silvia Corbisiero, Daniela F Angelini, Arcangela Ingrascì, Emiliano Giardina, Serena Ruggieri, Carla Tortorella, Claudio Gasperini, Maria Chiara Buscarinu, Marco Salvetti, Bruno Gran, Luca Battistini, Giovanna Borsellino","doi":"10.1007/s00415-026-14202-4","DOIUrl":"10.1007/s00415-026-14202-4","url":null,"abstract":"<p><p>CD20-targeting monoclonal antibodies are highly effective therapies for relapsing multiple sclerosis (MS). We examined how anti-CD20 therapy reshapes antiviral T-cell immunity, innate inflammatory tone, and blood markers of neuroaxonal injury. In this cross-sectional study, adults with relapsing MS were enrolled at two neurological centers in Rome. An immunophenotyping cohort (45 untreated, 25 anti-CD20-treated, all receiving ocrelizumab) was profiled by high-parameter flow cytometry across more than 40 immune populations. A separate antiviral cohort (24 untreated, 13 treated, 19 healthy donors) was assessed for T-cell responses to Epstein-Barr virus (EBV), cytomegalovirus (CMV) and SARS-CoV-2 by activation-induced marker assay, for cytokine and chemokine release by multiplex assay, and for serum neurofilament light chain (sNfL) by single-molecule array. Groups were compared by Kruskal-Wallis with Dunn's correction; correlations used Spearman's rank test. Anti-CD20 therapy depleted total and switched-memory B cells while sparing antibody-secreting cells and reduced absolute counts of follicular helper T cells and mucosal-associated invariant T cells. Untreated patients with MS (pwMS) showed elevated monocyte interleukin-1β and monocyte chemotactic protein-3 (MCP-3) and impaired pDC cell interferon-α production, whereas pDC IFN-α responses in ocrelizumab-treated pwMS were comparable to those in HD. EBV-specific CD4+ T-cell counts and stimulation index were selectively lower ocrelizumab-treated pwMS, whereas CMV- and SARS-CoV-2-specific responses were comparable across groups. sNfL was elevated in untreated pwMS and correlated with MCP-3 at baseline and after EBV stimulation. Anti-CD20 therapy acts on immune circuits beyond B cells, selectively contracting EBV-directed helper T-cell immunity while sparing other antiviral responses, and identifies MCP-3 as a candidate blood marker associated with neuroaxonal injury in pwMS.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 11","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13672440/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149194613","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}
引用次数: 0
Recurrent posterior stroke-like lesions heralding COQ8A-related coenzyme Q10 deficiency: a potentially treatable ataxia mistaken for stroke: a case report. 复发后卒中样病变预示着辅酶q8a相关辅酶Q10缺乏:一种潜在的可治疗的共济失调被误认为中风:一个病例报告。
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-10-14 DOI: 10.1007/s00415-026-14209-x
Sarika Mutyala, Prateek, Ashmit Gupta, Chiranjeevi Kona
{"title":"Recurrent posterior stroke-like lesions heralding COQ8A-related coenzyme Q10 deficiency: a potentially treatable ataxia mistaken for stroke: a case report.","authors":"Sarika Mutyala, Prateek, Ashmit Gupta, Chiranjeevi Kona","doi":"10.1007/s00415-026-14209-x","DOIUrl":"https://doi.org/10.1007/s00415-026-14209-x","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 11","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149182558","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}
引用次数: 0
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