Journal of Neurology最新文献

{"title":"Patient-reported outcomes and experiences with COMT inhibitors in the management of motor fluctuations in Parkinson's disease: a UK-based nested cross-sectional study.","authors":"Alastair J Noyce, Lara Akindele, Emma-Louise Shelton, Olina Efthymiadou, Maria Teresa Periñan, Raquel Maio, Glynn Harrison-Jones, Mario Ippolito","doi":"10.1007/s00415-026-13752-x","DOIUrl":"https://doi.org/10.1007/s00415-026-13752-x","url":null,"abstract":"<p><strong>Background: </strong>Motor fluctuations are a common complication in Parkinson's disease (PD), often managed with catechol-O-methyltransferase (COMT) inhibitors. We aimed to explore patient perspectives on their COMT inhibitor treatment and to evaluate and compare patient-reported outcomes and experiences with the COMT inhibitors opicapone and entacapone.</p><p><strong>Methods: </strong>This UK-based cross-sectional study utilised anonymised, real-world data from the AccessPD registry. A convenience sample of 102 registry participants who had received either opicapone or entacapone. completed validated patient-reported outcome measures (PDQ-39 and, EQ-5D-5L) and an online survey assessing treatment experiences, preferences, and communication with healthcare providers.</p><p><strong>Results: </strong>Survey responses highlighted that increased ON time and reduced OFF time were the most valued treatment attributes for COMT inhibitors, while hallucinations and dyskinesia were the least acceptable side effects. Only 25% of respondents recalled being informed about alternative treatment options prior to starting COMT inhibitor therapy. Communication from clinicians about the role of these drugs was inconsistent, with 27.5% of participants only rating it as 'fair/poor' and 58% reporting no follow-up after initiation. Patients' overall quality of life was generally reported as mild to moderately affected in both treatment groups.</p><p><strong>Conclusions: </strong>Survey findings underscore the heterogeneity of patient preferences and the need for improved clinician-patient communication and personalised care. Both COMT inhibitors should be considered in shared decision-making to optimise motor fluctuation management and quality of life in PD.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 5","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13110231/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147774298","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":"Efficacy and safety of monoclonal antibodies in the treatment of relapsing remitting multiple sclerosis: a systematic review.","authors":"Ana Avedillo-Salas, Laura Baeza Martínez, Ana Fanlo-Villacampa, Jorge Vicente-Romero","doi":"10.1007/s00415-026-13824-y","DOIUrl":"https://doi.org/10.1007/s00415-026-13824-y","url":null,"abstract":"<p><strong>Introduction: </strong>In relapsing-remitting multiple sclerosis (RRMS), conventional immunomodulatory and immunosuppressive therapies are widely used. However, in many cases, optimal control of inflammatory activity and disease progression is not achieved, which has led to the use of biological drugs such as monoclonal antibodies that act specifically on key components of the immune system. The aim was to evaluate the efficacy and safety of monoclonal antibodies compared to other drugs or placebo in adult patients with RRMS.</p><p><strong>Methods: </strong>A systematic review was performed based on randomized, double-blind, phase III controlled clinical trials published between 2012 and 2025 in the PubMed, Cochrane Library, and Web of Science databases, assessing efficacy and safety in adult patients with RRMS. The review was carried out following the PICO methodology and PRISMA guidelines.</p><p><strong>Results: </strong>A total of 11 studies were included, evaluating 5 monoclonal antibodies: alemtuzumab, daclizumab, ocrelizumab, ofatumumab, and ublituximab. These therapies showed superior efficacy compared to conventional treatments in reducing the annual relapse rate, MRI inflammatory activity and MRI activity, particularly in patients with highly active disease. However, effects on disability progression were heterogeneous across trials and not consistently significant. In addition, decreases in biomarkers of axonal damage were observed. Nevertheless, relevant adverse effects were identified, including infections, autoimmune reactions, hepatic and cutaneous toxicity, whose incidence varies depending on the drug, requiring close clinical monitoring.</p><p><strong>Conclusions: </strong>Monoclonal antibodies are an effective option in RRMS, with clinical and radiological benefits superior to those of conventional treatments. Their use requires individualized assessment and close follow-up due to the risk of adverse effects, especially in high-risk patients.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 5","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13102939/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147774280","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":"Acute vertigo and dizziness: the diagnostic potential of static posturography in the neurological emergency department.","authors":"Laurin Schappe, HeimigEmily Heimig, Daniel Janitschke, Maximilian Uwe Friedrich, Patrik Theodor Nerdal, Nicolas Rohmann, Frauke Röll, Daniel Martens, Mathias Fousse, Jakob Stögbauer, Gudrun Wagenpfeil, Yaroslav Winter, Sergiu Groppa, Ulrich Dillmann","doi":"10.1007/s00415-026-13823-z","DOIUrl":"https://doi.org/10.1007/s00415-026-13823-z","url":null,"abstract":"<p><strong>Background: </strong>Vertigo and dizziness are common in the emergency room, caused by a broad spectrum of conditions ranging from life-threatening to non-organic causes such as functional dizziness. The latter is often underdiagnosed, leading to chronic symptoms and high costs.</p><p><strong>Objective: </strong>To evaluate the diagnostic value of a short dual-task static posturography (sPG) protocol in patients with acute vertigo and dizziness in the neurological emergency department.</p><p><strong>Methods: </strong>We prospectively assessed 211 patients using sPG. Established patterns (normal, functional, cerebellar, sensory ataxic) were rated on a 5-point scale by two blinded experts. Interrater agreement and non-parametric analyses were performed, and diagnostic classifications were compared with and without sPG.</p><p><strong>Results: </strong>Interrater agreement was high (Kappa = 0.965). sPG identified functional patterns in 29.3% of previously unclear vertigo/dizziness cases, leading to a highly significant increase in the diagnosis of functional dizziness (p < 0.001). Functional patterns were also frequently observed in organic diagnoses, particularly in episodic vestibular disorders. Furthermore, by detecting cerebellar patterns, sPG identified 20% more cases of central vestibular disorders (from 45 to 54 cases).</p><p><strong>Conclusion: </strong>sPG offers a rapid, cost-effective tool to identify functional dizziness in the emergency setting, complementing standard clinical assessment. It facilitates early recognition of functional dizziness and may reduce underdiagnosis and prolonged symptom chronification.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 5","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13099802/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147774155","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":"Longitudinal trajectories of apathy in Huntington's disease: a 6-year follow-up study.","authors":"Emilie Poulsen, Rebecca K Hendel, Birna Ásbjörnsdóttir, Lena E Hjermind, Jørgen E Nielsen, Asmus Vogel","doi":"10.1007/s00415-026-13825-x","DOIUrl":"https://doi.org/10.1007/s00415-026-13825-x","url":null,"abstract":"<p><strong>Objective: </strong>Apathy is a common and debilitating neuropsychiatric symptom in Huntington's disease (HD), yet its long-term trajectory remains poorly characterized. This study examined changes in apathy in HD gene expansion carriers (HDGECs) over 6 years, using a multidimensional measure, and investigated associations with cognition, motor symptoms and depression.</p><p><strong>Methods: </strong>Eighty-two HDGECs (premanifest and manifest) completed assessments at Time 0 and Time 1 with a mean follow-up interval of 6 years. Apathy was measured using the Lille Apathy Rating Scale (LARS) and the Problem Behaviors Assessment-short (PBA-s). Depressive symptoms were assessed with the Hamilton Depression Rating Scale, while social cognition and executive functioning were measured using the Emotion Hexagon and Symbol Digit Modalities Test. Within-person changes were examined using paired statistical tests and associations with clinical variables were evaluated using correlation analyses.</p><p><strong>Results: </strong>Total apathy scores increased significantly over 6 years, with small changes (LARS: 1.38 points; PBA-s: 1.11 points). Premanifest participants showed a selective decline in Action Initiation, whereas manifest participants exhibited a broader worsening of total apathy. Individual trajectories were variable, with both worsening and improvement observed. An increase in depressive symptoms was significantly correlated with changes in apathy but accounted for little variance.</p><p><strong>Conclusion: </strong>Apathy in HD shows a small but significant increase over 6 years, characterized by marked heterogeneity and changes in Action Initiation. The limited association with depression and cognition highlights apathy as an independent neuropsychiatric feature. These findings underscore the heterogeneous nature of apathy progression and the value of multidimensional assessment in longitudinal studies.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 5","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13099697/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147774316","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":"Optic chiasmal neuritis: clinical features, aetiologies, MRI patterns and prognosis in a real-world cohort.","authors":"Vincent Brochard, Augustin Lecler, Edouard Januel, Emeline Chaugne, Marine Boudot de la Motte, Caroline Bensa, Jennifer Aboab, Dan Milea, Caroline Papeix, Romain Deschamps","doi":"10.1007/s00415-026-13826-w","DOIUrl":"https://doi.org/10.1007/s00415-026-13826-w","url":null,"abstract":"<p><strong>Background: </strong>Optic chiasmal neuritis (OCN) is considered atypical for multiple sclerosis (MS) and more frequently associated with neuromyelitis optica spectrum disorders (NMOSD). Yet the true aetiological spectrum of OCN in the antibody era remains poorly defined.</p><p><strong>Methods: </strong>We conducted a retrospective single-centre study of consecutive patients with MRI-confirmed chiasmal enhancement between 2017 and 2025. Non-inflammatory, non-demyelinating aetiologies and previous optic neuritis were excluded. Clinical features, ophthalmological outcomes, MRI findings, and aetiologies were analysed.</p><p><strong>Results: </strong>Among 293 screened records, 43 patients (median age 32 years) were included. Eye pain was reported in 58.1% of cases, phosphenes in 14%, and visual symptoms were bilateral in 39.5%. MS emerged as the most frequent aetiology (27/43; 62.8%), followed by NMOSD (20.9%) and myelin oligodendrocyte glycoprotein antibodies-associated disease (MOGAD, 9.3%). Orbital MRI patterns differed by aetiology: unilateral hemichiasmal T2-weighted involvement was significantly more frequent in MS than in non-MS patients (74.1% vs 25%, p = 0.004). Median time to intravenous methylprednisolone was 19 days (IQR 9.8-32.3). At one year, normal visual acuity was recovered in 55.4% of patients.</p><p><strong>Conclusions: </strong>To our knowledge, this is the largest real-world cohort specifically dedicated to OCN, a rare and heterogeneous inflammatory disorder of the optic pathway. Contrary to current perception, MS is the leading aetiology in real-world practice, challenging the traditional view of OCN as predominantly related to NMOSD. Orbital MRI patterns may help differentiate MS from NMOSD and MOGAD, and early recognition is essential given frequent diagnostic and treatment delays.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 5","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147729350","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":"Alzheimer's disease: disrupted communication between the endoplasmic reticulum and mitochondria.","authors":"Jiafu Guo, Ziying Yang, Shiyan Luo, Chenxi Li, Shijun Xu","doi":"10.1007/s00415-026-13822-0","DOIUrl":"10.1007/s00415-026-13822-0","url":null,"abstract":"<p><p>Alzheimer's disease (AD) remains a major, intractable neurodegenerative disorder and a serious threat to human health, characterized by a protracted clinical course, gradual progression, and irreversible cognitive decline. The current therapeutic landscape is characterized by a lack of disease-modifying agents, making the pursuit of early, effective interventions a global priority. Endoplasmic reticulum-mitochondria contact sites (ERMCs), also termed mitochondria-associated ER membranes (MAMs), constitute critical platforms for interorganellar communication, enabling material exchange and signal transduction. Key functions regulated at these junctions include calcium (Ca²⁺) homeostasis, mitochondrial dynamics, and lipid synthesis/transfer. Growing evidence implicates dysregulated ERMCs in the pathogenesis of neurodegenerative diseases, including AD and Parkinson's disease (PD). Recent advances in understanding the physiological and pathological roles of ERMCs have further illuminated their multifaceted contribution to AD, spanning amyloid-β (Aβ) production, Ca²⁺ signaling, energy and lipid metabolism, mitochondrial integrity, and endoplasmic reticulum stress (ERs). This review synthesizes current knowledge on ERMCs as a pivotal communication hub in AD and underscores their promising potential as targets for novel therapeutic strategies. Deeper insights into this axis may inform future approaches to improve clinical outcomes.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 5","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147729301","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":"The association of night shift work with the risk of acute ischemic cerebrovascular syndrome: a longitudinal study of 204,261 UK Biobank participants.","authors":"Yanhao Huang, Min-Hui Tan, Guanghui Wang, Shenyao Liang, Jun Lyu, Li'an Huang","doi":"10.1007/s00415-026-13827-9","DOIUrl":"https://doi.org/10.1007/s00415-026-13827-9","url":null,"abstract":"<p><strong>Background: </strong>Shift work is highly prevalent globally, yet evidence linking it to ischemic cerebrovascular disease remains inconsistent. Existing studies are limited by unsystematic quantification of night shift exposure and outcome definitions failing to capture the clinical continuum of ischemic events. We performed a large prospective cohort study using refined shift pattern classification and acute ischemic cerebrovascular syndrome (AICS) as the primary end point to enable a robust evaluation of the association between shift patterns and ischemic cerebrovascular disease.</p><p><strong>Methods: </strong>204,261 participants with employment information from the UK Biobank were included. Cox proportional hazards regression was used to assess associations between current shift work and AICS risk, with cross-classification by shift status and job duration. We further quantified average lifetime night shift frequency and cumulative duration among participants with complete occupational histories. Transient ischemic attack (TIA) and ischemic stroke (IS) were analyzed separately to identify the main driver of AICS and potential heterogeneity.</p><p><strong>Results: </strong>During a median follow-up exceeding 14 years, irregular shift work was significantly associated with elevated AICS risk (HR 1.118, 95% CI 1.019-1.227, P = 0.019), while always night shift work was not (HR 0.904, 95% CI 0.707-1.157, P = 0.423). AICS risk was driven by irregular shift patterns rather than duration. Lifetime night shift frequency and duration showed significant dose-response relationships with AICS.</p><p><strong>Conclusions: </strong>Irregular shift work increases AICS risk relative to non-shift work, and lifetime night shift exposure exhibits a clear dose-response effect. IS constitutes the primary driver of the composite AICS end point.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 5","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147723108","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":"Predicting disease progression in multiple sclerosis with clinically accessible information and technology.","authors":"Tom A N Fuchs, Menno M Schoonheim, Eva M M Strijbis, Julia R Jelgerhuis, Dana Horakova, Eva K Havrdova, Tomas Uher, Robert Zivadinov, Serkan Ozakbas, Marc Girard, Raed Alroughani, Pierre Grammond, Alessandra Lugaresi, Valentina Tomassini, Tomas Kalincik, Izanne Roos, Oliver Gerlach, Anneke van der Walt, Samia J Khoury, Vincent van Pesch, Andrea Surcinelli, Matteo Foschi, Maria Jose Sa, Emanuelle D'amico, Jens Kuhle, Elisabetta Cartechini, Davide Maimone, Rana Karabudak, Aysun Soysal, Daniele Spitaleri, Guy Laureys, Bruce Taylor, Marie D'hooghe, Radek Ampapa, Tamara Castillo-Triviño, Ayse Altintas, Orla Gray, Riadh Gouider, Jose E Meca-Lallana, Allan G Kermode, Marzena Fabis-Pedrini, William M Carroll, Koen de Gans, Jose Luis Sanchez-Menoyo, Masoud Etemadifar, Abdullah Al-Asmi, Pamela McCombe, Mihaela Simu, Mehmet Fatih Yetkin, Talal Al-Harbi, Tunde Csepany, Patrice Lalive, Todd A Hardy, Sudarshini Ramanathan, Barbara Willekens, Angel Perez Sempere, Simón Cárdenas-Robledo, Mario Habek, Bhim Singhal, Nikolaos Grigoriadis, Magdolna Simo, Vahid Shaygannejad, Yolanda Blanco, Eduardo Aguera-Morales, Justin Garber, Claudio Solaro, Neil Shuey, Dheeraj Khurana, Danny Decoo, Abdorreza Naser Moghadasi, Katherine Buzzard, Olga Skibina, Nevin John, Thor Petersen, Bianca Weinstock-Guttman","doi":"10.1007/s00415-026-13802-4","DOIUrl":"10.1007/s00415-026-13802-4","url":null,"abstract":"<p><strong>Background: </strong>Predicting disease progression at the individual level is essential for personalized medicine. We previously developed machine-learning tools to estimate 5-year progression risk in people with multiple sclerosis (PwMS). Such models should account for disease-modifying therapy (DMT) and objective outcome definitions.</p><p><strong>Methods: </strong>In a retrospective multicenter case-control study, we evaluated adults with relapsing-remitting multiple sclerosis (RRMS) at baseline. Using machine-learning, we developed two complementary tools for individualized 5-year risk estimation: DAAE-M, optimized for transparency, software-neutral use, and mitigation of indication bias, and ELIE, optimized for dynamic landmark-based modeling, complex treatment histories, and mitigation of immortal-time bias. Disease progression was defined using both a clinical outcome (RRMS-to-progressive MS) and an objective outcome (late-stage confirmed progression independent of relapse activity).</p><p><strong>Results: </strong>Among 34,510 people with RRMS (72.6% female, mean age = 37.1, mean disease duration = 5.8), 9.8% and 21% met clinical and objective progression criteria, respectively, over five years. Both models demonstrated good calibration across risk-groups (Brier scores 0.06-0.16). DAAE-M provided patient-level risk estimates with monotonic risk escalation across risk-groups for clinical (3.1%/11.2%/22.6%/33.0%) and objective (8.4%/14.5%/23.3%/38.8%) progression. For DAAE-M, high-efficacy DMT was associated with approximately half the progression risk compared with low-efficacy DMT (risk-ratios: 0.42-0.59; p < 0.01). ELIE also showed good calibration across risk deciles with increasing incidence for both clinical (0.3%/1.2%/1.7%/2.5%/3.7%/5.5%/7.2%/10.2%/14.3%/21.5%) and objective (0.9%/1.6%/2.5%/4.0%/5.8%/7.8%/10.2%/15.3%/20.9%/32.5%) outcomes.</p><p><strong>Conclusion: </strong>We developed two well-calibrated machine-learning-based tools for individualized 5-year prediction of clinically- and objectively-defined MS progression, each with distinct strengths in usability, bias handling, and treatment modeling. These findings support future tool use in personalized risk stratification and secondary prevention.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 5","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13092528/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147723102","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":"Correlations between peripheral neuropathy profiles and vascular skin lesions.","authors":"Morgan Dornadic, Didier Bessis, Florence Esselin, Pierre Labauge, Sophie Riviere, Nga Nguyen, Alexandre Jentzer, Jérôme J Devaux, Valérie Rigau, Guillaume Taïeb","doi":"10.1007/s00415-026-13818-w","DOIUrl":"https://doi.org/10.1007/s00415-026-13818-w","url":null,"abstract":"<p><strong>Background: </strong>Peripheral neuropathies may present with vascular skin lesions, such as livedo racemosa, ulcers, palpable purpura, or necrosis. These rare neurocutaneous associations can be severe and life-threatening.</p><p><strong>Objective: </strong>To determine (1) whether phenotypic correlations exist between neuropathy profiles and vascular skin lesion subtypes, and (2) whether these syndromes share a specific mechanism.</p><p><strong>Methods: </strong>We conducted a monocentric retrospective study at Montpellier University Hospital (1993-2022) including patients with peripheral neuropathy and vascular skin lesion(s) occurring as a syndrome. Clinical, electrophysiological, and histopathological data were analyzed.</p><p><strong>Results: </strong>Forty-one patients (median age 54 years) were included: 27 had mononeuritis multiplex (MM) and 14 polyneuropathy (PNP). Purpura (p = 0.001) and livedo (p < 0.05) were associated with MM, while ulcers were linked to PNP (p < 0.001). Ulcers were plantar in PNP and supraplantar in MM. Median delay between neuropathy and skin lesion was 1 month in MM versus 58 months in PNP (p < 0.001). In PNP subgroup, the neuropathy systematically preceded skin lesion. MM etiologies involved ischemic mechanisms related to vasculitis and/or vaso-occlusion [systemic angiitis (n = 19), type I cryoglobulinemia (n = 6), and primary antiphospholipid syndrome (n = 2)], whereas PNP was due to diabetes (n = 9), chronic renal failure (n = 1), alcohol (n = 1), leprosy (n = 1), or transthyretin-amyloidosis (n = 2).</p><p><strong>Discussion: </strong>MM correlates with livedo, purpura, and supraplantar ulcers, reflecting ischemia from vasculitis or vaso-occlusion. Conversely, plantar ulcers result from chronic PNP affecting large and small fibers. Skin lesion type may guide neuropathy phenotype and underlying etiology.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 5","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147716899","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":"Enhanced antibody detection via live cell-based assay among RIA negative myasthenia gravis patients: toward improved diagnosis and clinical correlates.","authors":"Elena Rinaldi, Elisa Puleo, Angela Di Maro, Raffaele Fusco, Amalia Canciello, Eleonora Giacopuzzi Grigoli, Rita Frangiamore, Marta Cheli, Fiammetta Vanoli, Silvia Bonanno, Renato Mantegazza, Carlo Antozzi, Fulvio Baggi, Francesca Andreetta, Lorenzo Maggi","doi":"10.1007/s00415-026-13810-4","DOIUrl":"https://doi.org/10.1007/s00415-026-13810-4","url":null,"abstract":"<p><strong>Background: </strong>Radioimmunoprecipitation assay (RIA) is the gold standard for antibody detection in myasthenia gravis (MG), while fixed cell-based assays (CBAs) are widely used as second-line or first-line tests. Live CBA represents an alternative approach and its combined use with fixed CBA may improve diagnostic sensitivity. Our aim was to evaluate the diagnostic yield of fixed and live CBA for AChR and MuSK antibodies in a large cohort of RIA seronegative MG patients and to investigate clinical associations and outcomes.</p><p><strong>Methods: </strong>Sera from 124 AChR- and MuSK-RIA seronegative MG patients and 72 control samples were tested using fixed CBA for fetal and adult AChR isoforms and MuSK. All sera were also analyzed with an in-house live CBA, with cells expressing clustered AChR or MuSK.</p><p><strong>Results: </strong>Fixed CBA identified AChR antibodies in 3/124 (2.4%) patients, all with mild early-onset MG; none were MuSK positive. Live CBA detected AChR antibodies in 11 (8.9%) and MuSK antibodies in 13 (10.5%) patients. Live CBA seronegative patients were predominantly female (77/100, 77%) compared with AChR-live (4/11, 36.4%) and MuSK-live (7/13, 53.8%) groups (p = 0.0068), and more frequently had generalized MG (87% vs 53.8% in MuSK-live; p = 0.0146). Unchanged or worsened MGFA-PIS occurred in 4/13 (30.8%) of MuSK-live patients and 18/82 (21.9%) of live CBA seronegative patients, whereas all AChR-live CBA patients achieved minimal manifestations or better.</p><p><strong>Conclusion: </strong>Live CBA identifies AChR or MuSK antibodies in approximately 20% of RIA seronegative MG patients and provides clinically meaningful subgroup stratification. Fixed CBA performed only slightly better than RIA.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 5","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147717110","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}