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Concomitant anti-CGRP and immunomodulatory treatments in patients with migraine: towards integrated management strategies. 偏头痛患者的联合抗cgrp和免疫调节治疗:迈向综合管理策略。
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-06-03 DOI: 10.1007/s00415-025-13177-y
María Clara García-Castillo, Álvaro Sierra-Mencía, Edoardo Caronna, Daniel Toledo-Alfocea, Alex Jaimes, Saray Urtiaga, Javier Casas-Limón, Albert Muñoz-Vendrell, Sonia Santos-Lasaosa, Valvanuz García Martín, Guillermo Martín Ávila, Marcos Polanco, Maria Dolores Villar-Martínez, Cristina Trevino-Peinado, Laura Rubio-Flores, Antonio Sánchez-Soblechero, Leonardo Portocarrero Sánchez, Elisa Luque-Buzo, Alberto Lozano-Ros, Ana Beatriz Gago-Veiga, Javier Díaz-De-Terán, Andrea Recio García, Javiera Canales Rodríguez, Andrea Gómez García, Marta González Salaices, Sergio Campoy, Ane Mínguez-Olaondo, Stefania Maniataki, Vicente González-Quintanilla, Jesús Porta-Etessam, María-Luz Cuadrado, Ángel Luis Guerrero Peral, Patricia Pozo-Rosich, Jaime Rodríguez-Vico, Mariano Huerta-Villanueva, Julio Pascual, Peter J Goadsby, Alicia Gonzalez-Martinez
{"title":"Concomitant anti-CGRP and immunomodulatory treatments in patients with migraine: towards integrated management strategies.","authors":"María Clara García-Castillo, Álvaro Sierra-Mencía, Edoardo Caronna, Daniel Toledo-Alfocea, Alex Jaimes, Saray Urtiaga, Javier Casas-Limón, Albert Muñoz-Vendrell, Sonia Santos-Lasaosa, Valvanuz García Martín, Guillermo Martín Ávila, Marcos Polanco, Maria Dolores Villar-Martínez, Cristina Trevino-Peinado, Laura Rubio-Flores, Antonio Sánchez-Soblechero, Leonardo Portocarrero Sánchez, Elisa Luque-Buzo, Alberto Lozano-Ros, Ana Beatriz Gago-Veiga, Javier Díaz-De-Terán, Andrea Recio García, Javiera Canales Rodríguez, Andrea Gómez García, Marta González Salaices, Sergio Campoy, Ane Mínguez-Olaondo, Stefania Maniataki, Vicente González-Quintanilla, Jesús Porta-Etessam, María-Luz Cuadrado, Ángel Luis Guerrero Peral, Patricia Pozo-Rosich, Jaime Rodríguez-Vico, Mariano Huerta-Villanueva, Julio Pascual, Peter J Goadsby, Alicia Gonzalez-Martinez","doi":"10.1007/s00415-025-13177-y","DOIUrl":"10.1007/s00415-025-13177-y","url":null,"abstract":"<p><strong>Background: </strong>Preclinical evidence supports the immunoregulatory role of calcitonin gene-related peptide (CGRP) in migraine pathophysiology. The increasing use of anti-CGRP therapies in patients with migraine and other comorbidities raises the question whether the potential use of anti-CGRP monoclonal antibodies (CGRP-mAbs) therapies in combination with other immunological therapies is effective and safe.</p><p><strong>Methods: </strong>This multicenter study included patients with migraine receiving CGRP-mAbs combined with immunosuppressive and immunomodulatory treatments. Clinical and demographic data, treatment history, laboratory markers and treatment-emergent adverse events (TEAEs) were analyzed. Effectiveness outcomes included the change in monthly migraine days (MMD) and monthly headache days (MHD) at 3, 6, 9 and 12 months, alongside the > 50% response rate. Moreover, autoimmune disease progression was also evaluated. We explored differences between patients with and without autoimmune disease activation.</p><p><strong>Results: </strong>Among 89 patients, there were 80 (90%) females with a mean age of 50 years (SD: 11), who had a high prevalence of psychiatric comorbidities (anxiety 44%, depression 49%) and medication overuse (68%). Patients receiving immunological treatments experienced significant reductions in MMD and MHD, with MMD decreasing from 16 (SD: 7) at baseline to 9 (SD: 8) at 6 months, and MHD dropping from 23 (SD: 8) to 17 (SD: 11). A 50% response in MMD was achieved by 46% at 6 months. TEAEs were reported in 28%, most commonly constipation (16%) and dizziness (9%).</p><p><strong>Conclusions: </strong>CGRP-mAbs therapies combined with immunological treatments appear effective and safe in patients with autoimmune diseases. Larger prospective studies are necessary to confirm these findings and optimize management strategies.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"443"},"PeriodicalIF":4.8,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12134006/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144216148","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
Inverse relation between serum neurofilament light chain and cognitive function in chronic inflammatory demyelinating polyneuropathy. 慢性炎性脱髓鞘性多发性神经病患者血清神经丝轻链与认知功能的负相关研究。
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-06-03 DOI: 10.1007/s00415-025-13179-w
Rohat Geran, Oliver L Steiner, Elena Krasivskaya, Ulrike Hannemann, Fabian Klostermann
{"title":"Inverse relation between serum neurofilament light chain and cognitive function in chronic inflammatory demyelinating polyneuropathy.","authors":"Rohat Geran, Oliver L Steiner, Elena Krasivskaya, Ulrike Hannemann, Fabian Klostermann","doi":"10.1007/s00415-025-13179-w","DOIUrl":"10.1007/s00415-025-13179-w","url":null,"abstract":"<p><strong>Background: </strong>Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) is a dysimmune disease primarily targeting the Schwann cell myelin sheath in the peripheral nervous system (PNS), resulting in sensorimotor deficits. Surprisingly, subtle cognitive impairments as well as axonal damage, indicated by elevated serum neurofilament light chain (sNfL), prevail in CIDP. This study investigated whether elevated sNfL is associated with lower cognitive performance in CIDP.</p><p><strong>Methods: </strong>Thirty-five CIDP patients underwent digital cognitive testing across multiple domains, alongside assessments of sociodemographic, clinical, and sNfL measures. Patients were stratified into low- and high-sNfL groups based on the median value, and clinical variables were compared. Further, general linear models, controlled for clinical and sociodemographic factors, were employed to evaluate the predictive value of sNfL for global and domain-specific cognitive functioning.</p><p><strong>Results: </strong>Higher sNfL values were associated with worse general cognitive performance (β = -0.31, p = 0.016) and reduced processing speed (β = -0.40, p = 0.008). Patients with increased sNfL levels had a longer disease duration (p = 0.016), also linked to poorer cognitive outcome (β = -0.26, p = 0.045).</p><p><strong>Conclusions: </strong>In this CIDP cohort, high sNfL levels were associated with reduced cognitive performance and longer disease duration. The findings suggest that sNfL is a clinical meaningful biomarker for the detection and monitoring of central involvement in the course of CIDP, a condition traditionally viewed as purely peripheral.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"439"},"PeriodicalIF":4.8,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12133963/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144208776","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
Impact of the intronic RFC1 expansion size in CANVAS phenotype: an oculomotor study. CANVAS表型中内含子RFC1扩增大小的影响:一项动眼病研究。
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-06-03 DOI: 10.1007/s00415-025-13150-9
Mathieu Dupré, Ruben Hermann, Léo Vidoni, Isabelle Quadrio, Philippe Latour, Fabien Subtil, Caroline Froment Tilikete
{"title":"Impact of the intronic RFC1 expansion size in CANVAS phenotype: an oculomotor study.","authors":"Mathieu Dupré, Ruben Hermann, Léo Vidoni, Isabelle Quadrio, Philippe Latour, Fabien Subtil, Caroline Froment Tilikete","doi":"10.1007/s00415-025-13150-9","DOIUrl":"10.1007/s00415-025-13150-9","url":null,"abstract":"<p><p>The identification of the RFC1 homozygous intronic expansion in cerebellar ataxia neuropathy and vestibular areflexia syndrome (CANVAS) highlighted that genetically determined CANVAS patients exhibit a wide range of clinical presentations and natural course. Previous studies suggested a link between disease severity and the size of the intronic expansion. The aim of our study was to obtain quantitative data related to vestibular and cerebellar impairments using oculomotor recordings to provide further evidence of a link between RFC1 intronic expansion size and the phenotype. This study recruited 26 genetically determined CANVAS patients in whom the size of the pathological intronic expansion was measured on both alleles. In addition to clinical data, we also recorded the Overall Neuropathy Limitation Scale (ONLS) and conducted objective oculomotor testing. According to the median expansion length on one allele, the patients were divided in a longer intronic repeat subgroup and a shorter intronic repeat subgroup. Given the homozygous nature of this disease, this analysis was carried out for the smallest and for the longest allele. We found for the smallest allele that vestibular deficit and cerebellar impairment were significantly more frequent and mean ONLS, smooth pursuit, pendular visually enhanced vestibulo-ocular reflex, and head impulse vestibulo-ocular reflex gains were significantly more impaired in the subgroup of patients with the long intronic repeat. This work provides objective evidence for a functional impact of the pathological intronic expansion size in CANVAS and highlights the interest of oculomotor assessment in research and clinical practice both for diagnostic and potentially prognostic purposes.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"442"},"PeriodicalIF":4.8,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12134041/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144216150","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
Structure-function association of the cerebellar motor network is altered in isolated cervical dystonia. 小脑运动网络的结构-功能关联在孤立性颈肌张力障碍中发生改变。
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-06-03 DOI: 10.1007/s00415-025-13186-x
Kai Grimm, Hanna Braaß, Fatemeh Sadeghi, Mathias Gelderblom, Robert Schulz, Simone Zittel
{"title":"Structure-function association of the cerebellar motor network is altered in isolated cervical dystonia.","authors":"Kai Grimm, Hanna Braaß, Fatemeh Sadeghi, Mathias Gelderblom, Robert Schulz, Simone Zittel","doi":"10.1007/s00415-025-13186-x","DOIUrl":"10.1007/s00415-025-13186-x","url":null,"abstract":"<p><strong>Background: </strong>Cervical dystonia (CD) has been recognized as a disorder of the brain's sensorimotor network. Within this malfunctioning network, the cerebellum plays an important role that needs to be further characterized.</p><p><strong>Methods: </strong>To investigate the structural connectivity of the dentato-rubro-thalamic tract (DRTT), probabilistic tractography was performed in 18 CD patients and 18 matched healthy control (HC) subjects. Connectivity was quantified with fractional anisotropy (FA). Thirteen subjects in each group also participated in a neurophysiological double-blind experiment to investigate the effect of cathodal and sham cerebellar transcranial direct current stimulation (ctDCS) on sensorimotor associative plasticity, as evoked by paired associative stimulation (PAS). The association of FA of the DRTT and neurophysiological parameters was studied with linear models.</p><p><strong>Results: </strong>The FA of the DRTT was not different between the groups and not related to motor symptom severity in CD patients. In the HC group, there was a significant association between the structural connectivity of the DRTT and the effect that cathodal ctDCS had on the PAS effect. This association was not found in CD patients.</p><p><strong>Conclusions: </strong>The microstructural state of the DRTT is a potential biomarker for the efficacy of ctDCS in HC. The lack of this structure-function association in patients is further evidence of abnormal properties of the cerebellar motor network in CD.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"441"},"PeriodicalIF":4.8,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12133984/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144208779","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
Spatial navigation deficits in early Alzheimer's disease: the role of biomarkers and APOE genotype. 早期阿尔茨海默病的空间导航缺陷:生物标志物和APOE基因型的作用
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-06-02 DOI: 10.1007/s00415-025-13151-8
Martina Laczó, Zuzana Svacova, Ondrej Lerch, Lukas Martinkovic, Monika Krejci, Zuzana Nedelska, Hana Horakova, Vaclav Matoska, Martin Vyhnalek, Jakub Hort, Michael Hornberger, Jan Laczó
{"title":"Spatial navigation deficits in early Alzheimer's disease: the role of biomarkers and APOE genotype.","authors":"Martina Laczó, Zuzana Svacova, Ondrej Lerch, Lukas Martinkovic, Monika Krejci, Zuzana Nedelska, Hana Horakova, Vaclav Matoska, Martin Vyhnalek, Jakub Hort, Michael Hornberger, Jan Laczó","doi":"10.1007/s00415-025-13151-8","DOIUrl":"10.1007/s00415-025-13151-8","url":null,"abstract":"<p><strong>Background: </strong>Spatial navigation deficits are early symptoms of Alzheimer's disease (AD). The apolipoprotein E (APOE) ε4 allele is the most important genetic risk factor for AD. This study investigated effects of APOE genotype on spatial navigation in biomarker-defined individuals with amnestic mild cognitive impairment (aMCI) and associations of AD biomarkers and atrophy of AD-related brain regions with spatial navigation.</p><p><strong>Methods: </strong>107 participants, cognitively normal older adults (CN, n = 48) and aMCI individuals stratified into AD aMCI (n = 28) and non-AD aMCI (n = 31) groups, underwent cognitive assessment, brain MRI, and spatial navigation assessment using the Virtual Supermarket Test with egocentric and allocentric tasks and a self-report questionnaire. Cerebrospinal fluid (CSF) biomarkers (amyloid-β<sub>1-42</sub>, phosphorylated tau<sub>181</sub> and total tau) and amyloid PET imaging were assessed in aMCI participants.</p><p><strong>Results: </strong>AD aMCI participants had the highest prevalence of APOE ε4 carriers and worst allocentric navigation. CSF levels of AD biomarkers and atrophy in AD-related brain regions were associated with worse allocentric navigation. Between-group differences in spatial navigation and associations with AD biomarkers and regional brain atrophy were not influenced by APOE genotype. Self-reported navigation ability was similar across groups and unrelated to spatial navigation performance.</p><p><strong>Conclusions: </strong>These findings suggest that allocentric navigation deficits in aMCI individuals are predominantly driven by AD pathology, independent of APOE genotype. This highlights the role of AD pathology as measured by biomarkers, rather than genetic status, as a major factor in navigational impairment in aMCI, and emphasizes the assessment of spatial navigation as a valuable tool for early detection of AD.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"438"},"PeriodicalIF":4.8,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12130088/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144208777","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
Walter Edward Dandy (1886-1946). 沃尔特·爱德华·丹迪(1886-1946)。
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-06-01 DOI: 10.1007/s00415-025-13156-3
Alisha Huang, Maeve C Lucas, Mariam M Yousuf, Lilia Kazerooni, Jonathan D Santoro
{"title":"Walter Edward Dandy (1886-1946).","authors":"Alisha Huang, Maeve C Lucas, Mariam M Yousuf, Lilia Kazerooni, Jonathan D Santoro","doi":"10.1007/s00415-025-13156-3","DOIUrl":"10.1007/s00415-025-13156-3","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"437"},"PeriodicalIF":4.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12127224/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144199412","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
From checkboxes to emojis: a novel approach to patient-reported outcomes in multiple sclerosis. 从复选框到表情符号:多发性硬化症患者报告结果的新方法。
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-05-30 DOI: 10.1007/s00415-025-13169-y
Nur Neyal, Katelynn J Krey, Holly A Morrison, Nabeela Nathoo, Elizabeth J Atkinson, Jiye Son, Eoin P Flanagan, Sean J Pittock, Ugur Uygunoglu, Orhun H Kantarci, Burcu Zeydan
{"title":"From checkboxes to emojis: a novel approach to patient-reported outcomes in multiple sclerosis.","authors":"Nur Neyal, Katelynn J Krey, Holly A Morrison, Nabeela Nathoo, Elizabeth J Atkinson, Jiye Son, Eoin P Flanagan, Sean J Pittock, Ugur Uygunoglu, Orhun H Kantarci, Burcu Zeydan","doi":"10.1007/s00415-025-13169-y","DOIUrl":"10.1007/s00415-025-13169-y","url":null,"abstract":"<p><strong>Background: </strong>Patient-reported outcome measures (PROMs) improve multiple sclerosis (MS) management by reflecting patients' perspectives of their disease. Mayo Clinic Electronic Emoji Based Neurological Impairment Status (MEBNIS) is a short PROM consisting of four equally-weighted domains (Memory<sup>MEBNIS</sup>, Mood<sup>MEBNIS</sup>, Fatigue-Sleepiness<sup>MEBNIS</sup>, and Ambulation<sup>MEBNIS</sup>) and Composite<sup>MEBNIS</sup>, which are based on emojis.</p><p><strong>Objective: </strong>To investigate the correlations of MEBNIS with patient-reported, examination-based, performance-based, and radiological metrics of disease severity in persons with MS (pwMS).</p><p><strong>Methods: </strong>PwMS (n = 195) prospectively completed MEBNIS, Expanded Disability Status Scale (EDSS), MS Functional Composite (MSFC) and its subtests [25-Foot Walk Test (25FWT), 9-Hole Peg Test (9HPT), Paced Auditory Serial Addition Test (PASAT)], Beck Depression Inventory (BDI), Fatigue Questionnaire (FQ), and Epworth Sleepiness Scale (ESS) between May 2021 and May 2024. Participants also underwent brain MRIs. Correlations were summarized using Spearman's rank correlation coefficients.</p><p><strong>Results: </strong>Memory<sup>MEBNIS</sup> correlated (p≤0.001) with PASAT (rho = -0.25), ESS (rho = 0.24), FQ (rho = 0.36), and BDI (rho = 0.36). Mood<sup>MEBNIS</sup> correlated (p<0.001) with FQ (rho = 0.40) and BDI (rho = 0.46). Fatigue-Sleepiness<sup>MEBNIS</sup> correlated (p<0.001) with ESS (rho = 0.49), FQ (rho = 0.59), and BDI (rho = 0.44). Ambulation<sup>MEBNIS</sup> correlated (p<0.001) with EDSS (rho = 0.69), MSFC z-score (rho = -0.59), 25FWT (rho = 0.66), 9HPT (rho = 0.54), PASAT (rho = -0.32), FQ (rho = 0.41), and BDI (rho = 0.37). Composite<sup>MEBNIS</sup> correlated (p<0.001) with EDSS (rho = 0.47), MSFC z-score (rho = -0.42), 25FWT (rho = 0.49), 9HPT (rho = 0.36), PASAT (rho = -0.26), ESS (rho = 0.38), FQ (rho = 0.64), and BDI (rho = 0.58). Memory<sup>MEBNIS</sup>, Ambulation<sup>MEBNIS</sup> and Composite<sup>MEBNIS</sup> correlated with cortical gray matter (Memory<sup>MEBNIS</sup> rho = -0.17; Ambulation<sup>MEBNIS</sup> rho = -0.30; Composite<sup>MEBNIS</sup> rho = -0.20) and thalamus (Memory<sup>MEBNIS</sup> rho = -0.17; Ambulation<sup>MEBNIS</sup> rho = -0.20; Composite<sup>MEBNIS</sup> rho = -0.17) volumes (p<0.05).</p><p><strong>Conclusions: </strong>As a novel visual PROM, MEBNIS correlates with established patient-reported, examination-based, performance-based, and radiological metrics of MS severity. It offers a fast, intuitive, and accessible multi-domain evaluation of impairment and disease severity in MS, applicable to both clinical practice and clinical trials as a potential digital tool.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"434"},"PeriodicalIF":4.8,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12279282/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144187203","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
Double seronegative myasthenia gravis and mimics: a retrospective cross-sectional study by two tertiary centers in the Southern Italy. 双重血清阴性重症肌无力和模拟:意大利南部两个三级中心的回顾性横断面研究。
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-05-30 DOI: 10.1007/s00415-025-13170-5
Simona Maccora, Claudia Vinciguerra, Christian Messina, Liliana Bevilacqua, Nicasio Rini, Paolo Barone, Filippo Brighina, Vincenzo Di Stefano
{"title":"Double seronegative myasthenia gravis and mimics: a retrospective cross-sectional study by two tertiary centers in the Southern Italy.","authors":"Simona Maccora, Claudia Vinciguerra, Christian Messina, Liliana Bevilacqua, Nicasio Rini, Paolo Barone, Filippo Brighina, Vincenzo Di Stefano","doi":"10.1007/s00415-025-13170-5","DOIUrl":"10.1007/s00415-025-13170-5","url":null,"abstract":"<p><strong>Background: </strong>Seronegative myasthenia gravis (MG) accounts for ~ 10% of MG cases, often with mild to moderate symptoms. Diagnosis is frequently delayed or incorrect. Advanced serological, neurophysiological, and objective testing is essential to differentiate MG from similar conditions, avoid misdiagnosis, and ensure appropriate care.</p><p><strong>Methods: </strong>We retrospectively analyzed 80 patients diagnosed with double-seronegative MG (dSNMG) from 2012 to March 2024 across 2 neuromuscular centers (Palermo and Salerno). Demographic, clinical, neurophysiological, and comorbidity data were reviewed to confirm or exclude MG after follow-up.</p><p><strong>Results: </strong>MG diagnosis was confirmed in 64% of cases (n = 51), while 36% (n = 29) received alternative diagnoses. Repetitive nerve stimulation (RNS) and single-fiber electromyography (SFEMG) were highly accurate in identifying MG. Among MG mimics, functional disorders were most frequent (45%), followed by oculopharyngeal muscular dystrophy, benign essential blepharospasm, Basedow-Graves ophthalmopathy, and refraction defects. MG mimics had longer diagnostic delays and a higher prevalence of psychiatric disorders. Confirmed MG cases were predominantly female, with a median onset age of 50 years; 67% had mild to moderate disease (MGFA class I-II). These patients required higher pyridostigmine doses and had common comorbidities, including hypertension, cardiovascular, and autoimmune diseases.</p><p><strong>Conclusion: </strong>Diagnosing seronegative MG is challenging. In our cohort, neurophysiological testing played a key role in confirming MG, which presented mostly as a mild to moderate form responsive to symptomatic treatment. Notably, 45% of alternative diagnoses were functional disorders.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"433"},"PeriodicalIF":4.8,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144187201","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
Accuracy of video head impulse test in stroke diagnosis during acute vestibular syndrome: a systematic review with meta-analysis. 视频脑脉冲试验在急性前庭综合征卒中诊断中的准确性:一项系统回顾和荟萃分析。
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-05-30 DOI: 10.1007/s00415-025-13174-1
Nicola Ferri, Alessandro Bracci, Giacomo Metta Franceschelli, Giacomo Gnoli, Andrea Turolla, Paolo Pillastrini, Leonardo Manzari, Marco Tramontano
{"title":"Accuracy of video head impulse test in stroke diagnosis during acute vestibular syndrome: a systematic review with meta-analysis.","authors":"Nicola Ferri, Alessandro Bracci, Giacomo Metta Franceschelli, Giacomo Gnoli, Andrea Turolla, Paolo Pillastrini, Leonardo Manzari, Marco Tramontano","doi":"10.1007/s00415-025-13174-1","DOIUrl":"10.1007/s00415-025-13174-1","url":null,"abstract":"<p><strong>Background: </strong>Vertigo is a common symptom in people with acute stroke, leading to difficulty in the diagnostic process. This study aims to systematically report the accuracy of the video head impulse test (vHIT) for diagnosing stroke in individuals presenting to emergency departments with acute vertigo.</p><p><strong>Methods: </strong>Data from MEDLINE, CENTRAL, CINAHL, SCOPUS, and gray literature were searched from inception to July 2024 without language limits. Independent researchers created a contingency table to record the number of true positives, false positives, true negatives, and false negatives. A bivariate analysis was performed to estimate the summary sensitivity and specificity. Subgroup and sensitivity analyses were conducted to explore the source of heterogeneity. A quality assessment was performed using the Quality Assessment of Diagnostic Test Accuracy Studies 2 tool.</p><p><strong>Results: </strong>13 studies (905 participants) were included. EyeSeeCam (6/13) and Otometrics (6/13) were the most represented vHIT devices. The studies were of good quality, with the flow and timing being the more prevalent domain presenting a high risk of bias (7/13); however, there were no concerns about applicability. The vHIT had a specificity of 85% (95% CI, 61%-95%), sensitivity of 84% (95% CI, 70%-92%), positive likelihood ratio (LR) of 5.56 (95% CI, 2.00-15.47), negative LR of 0.18 (95% CI, 0.10-0.35), and diagnostic odd ratio of 30.23 (95% CI, 8.96-102.06), making this test particularly useful for ruling out strokes.</p><p><strong>Conclusion: </strong>This review highlights the value of vHIT as a complementary tool in early diagnosis of stroke. Thus, expertise in its use and interpretation should be promoted, and future primary studies are expected to refine and update this systematic review. Prospero registration CRD42024532776.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"436"},"PeriodicalIF":4.8,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144187200","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
Peripheral neuropathies associated with anti-tnf-α treatments: a systematic review and proposed recommendations. 与抗tnf-α治疗相关的周围神经病变:系统回顾和建议
IF 4.8 2区 医学
Journal of Neurology Pub Date : 2025-05-30 DOI: 10.1007/s00415-025-13175-0
Giammarco Milella, Marco Sozzo, Piergiorgio Lasorella, Stefania Scannicchio, Sebastiano Carlone, Marco Fornaro, Giovanni Defazio
{"title":"Peripheral neuropathies associated with anti-tnf-α treatments: a systematic review and proposed recommendations.","authors":"Giammarco Milella, Marco Sozzo, Piergiorgio Lasorella, Stefania Scannicchio, Sebastiano Carlone, Marco Fornaro, Giovanni Defazio","doi":"10.1007/s00415-025-13175-0","DOIUrl":"10.1007/s00415-025-13175-0","url":null,"abstract":"<p><strong>Background: </strong>There is growing evidence that anti-TNF-α therapies may trigger immune-mediated polyneuropathies. However, the clinical spectrum, therapeutic strategies, and long-term outcomes remain insufficiently defined. This systematic review aims to address these gaps by collecting published case-reports and describing two additional cases of anti-TNF-α-induced neuropathy.</p><p><strong>Methods: </strong>A total of 99 cases from the literature and two from our center were included (n = 101). Clinical, neurophysiological, therapeutic, and outcome data were summarized. Predictors of poor neurological outcomes were identified using univariate and multivariate logistic regression.</p><p><strong>Results: </strong>Ninety percent of neuropathies typically developed within the first 24 months of treatment (median: 6 (IQR: 3-14) months), with Infliximab as the most frequently implicated agent (63.4%). Motor impairment, either isolated (29.7%) or with sensory symptoms (55.4%), was the predominant presentation. Neurophysiological studies showed conduction blocks (41%) or demyelination (39%). TNF-α therapy was discontinued in 94.8% of cases, and rescue immunotherapy was used in 73%. Complete recovery occurred in 39.6%, while 31.7% developed a chronic inflammatory demyelinating polyneuropathy-like phenotype. Univariate analysis identified sensory-motor involvement, demyelination, and conduction blocks as predictors of poor outcome; multivariate analysis confirmed sensory-motor involvement as an independent predictor (OR = 5.14; 95% CI: 1.24-21.34; p = 0.024). Symptom recurrence was evident in 7 re-exposed patients, while no relapse was observed in 2 patients who underwent dose reduction or different anti-TNF-α drug.</p><p><strong>Conclusions: </strong>Anti-TNF-α therapy can induce neuropathies characterized predominantly by motor symptoms and demyelinating features, frequently resulting in chronic neurological impairment despite drug withdrawn and immunomodulatory therapy. Drug rechallenge should be approached cautiously, and close monitoring is warranted if rechallenge is considered.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"432"},"PeriodicalIF":4.8,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144187217","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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