Neurological Sciences最新文献

{"title":"Longitudinal dynamics and clinical significance of acetylcholine receptor blocking antibodies in myasthenia gravis.","authors":"Aigli G Vakrakou, Maria Belimezi, Eleni Strataki, Eleftherios Kontizas, Dimitra Tzavella, Dimitrios Panaretos, Emmanouil Angelakis, Vasiliki Zouvelou","doi":"10.1007/s10072-026-09423-4","DOIUrl":"10.1007/s10072-026-09423-4","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the longitudinal clinical relevance of acetylcholine receptor (AChR) blocking antibodies in myasthenia gravis (MG).</p><p><strong>Methods: </strong>We prospectively studied 47 AChR-positive MG patients with 121 serial antibody measurements over a mean follow-up of 2.8 years. AChR-binding antibodies were measured by a conventional radioimmunoprecipitation assay, whereas AChR-blocking activity was measured using a competitive radioimmunoassay. Disease severity was assessed using Myasthenia Gravis Foundation of America (MGFA) classification. Longitudinal associations were analyzed using generalized estimating equations (GEE).</p><p><strong>Results: </strong>Blocking antibodies (> 20% inhibition) were associated with MGFA severity across repeated observations in longitudinal GEE analysis (β = 0.045, p < 0.001), whereas binding antibodies were not significant. Among 13 patients with ocular-onset MG, all 8 who progressed to generalized disease were blocking antibody-positive, while none of the 5 patients who remained ocular tested positive. Blocking antibodies were detected in 90.5% of generalized MG patients, whereas all persistently ocular patients were negative.</p><p><strong>Conclusions: </strong>AChR blocking antibodies are associated with MG disease severity over time and may help identify ocular MG patients at risk of generalization, supporting their potential clinical relevance in MG.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13612679/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149040015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Aggressive brainstem listeria abscess in an immunocompetent individual: A case report.","authors":"Pankhuri Banerjee, Destiny Marquez, Alexandra S Reynolds, Fernanda Carvalho Poyraz, Dana Klavansky","doi":"10.1007/s10072-026-09434-1","DOIUrl":"10.1007/s10072-026-09434-1","url":null,"abstract":"<p><p>Listeria monocyotogenes, a gram-positive bacterium is transmitted to humans through ingestion of contaminated foods, including deli meats, soft cheeses, and raw vegetables but can also thrive in soil, water, sewage, manure and animal feed. Its infection in immunocompetent patients is fairly limited to gastrointestinal distress but carries a high mortality rate in immunocompromised patients especially when affecting the central nervous system. We present a challenging case of an immunocompetent patient in their late 50s with neurolisteriosis presenting as multifocal brainstem abscesses with an extensive negative infectious workup and complex antibiotic regimen. This case underscores the diagnostic and therapeutic difficulties of managing invasive neurolisteriosis and aims to enhance critical thinking, particularly in the context of recent recurring listeria outbreaks. Despite being critically ill for months, this patient has had a dramatic recovery and is a reminder that neurologic infections can ultimately be associated with good outcome if the infection is aggressively and promptly treated.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149063094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effectiveness of atogepant in migraine with and without medication overuse: Pooled real-world analysis of two independent clinical cohorts.","authors":"Marcella De Luca, Ludovica Ferraù, Maria Stella Adragna, Andrea Cafarchio, Rosario Grugno, Gianluca Vita, Riccardo Lo Presti, Domenico Cosenza, Massimo Autunno","doi":"10.1007/s10072-026-09428-z","DOIUrl":"10.1007/s10072-026-09428-z","url":null,"abstract":"<p><strong>Background: </strong>Medication-overuse headache (MOH) is common in treatment-resistant chronic migraine and may complicate preventive management. The aim of this study was to evaluate the short-term effectiveness of atogepant 60 mg once daily in a pooled real-world population of patients with migraine, including treatment-resistant chronic migraine, and to explore whether baseline MOH influenced treatment response.</p><p><strong>Methods: </strong>This pooled observational study combined two independent real-world cohorts of patients treated with atogepant 60 mg once daily for migraine prevention. The database included 78 patients, with short-term follow-up recorded at 12 weeks in one cohort and at 3 months in the other. Monthly migraine days (MMD), monthly symptomatic medication use, Migraine Disability Assessment (MIDAS), Headache Impact Test-6 (HIT-6), and treatment documentation were harmonized. Effectiveness was analyzed in the pooled population, while exploratory comparisons were performed according to baseline medication-overuse headache (MOH) status.</p><p><strong>Results: </strong>The pooled database included 78 patients, and paired MMD measurements were available for 73. Median MMD decreased from 13.0 [10.0-20.0] to 4.0 [3.0-8.0], with a median reduction of 7.0 [6.0-11.0] days/month (p < 0.001). A reduction of at least 50% was achieved by 54/73 patients (74.0%). MIDAS, HIT-6, and monthly symptomatic medication use also improved significantly (all p < 0.001). MOH status was available for 77 patients: 24 had MOH and 53 did not. Patients with MOH had a greater baseline burden and larger absolute reductions in MMD and symptomatic medication use; however, MMD percentage reduction and responder rates did not differ significantly by MOH status. Adverse-event documentation was available for 70 patients, of whom 19 had at least one recorded event.</p><p><strong>Conclusions: </strong>In this pooled real-world analysis, atogepant was associated with clinically meaningful short-term improvement in migraine frequency, disability, headache impact, and symptomatic medication use. Baseline MOH was associated with greater initial disease burden but did not appear to attenuate proportional treatment response. Because safety and persistence were documented differently in the two cohorts, pooled tolerability estimates should be interpreted descriptively.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149039966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neural correlates and clinical application of mirror neuron-based interventions in swallowing function rehabilitation: a scoping review.","authors":"Lin Qiu, BeiYi Ma, QinYi Yang, HuiQin Zhang, Lanshu Zhou","doi":"10.1007/s10072-026-09396-4","DOIUrl":"10.1007/s10072-026-09396-4","url":null,"abstract":"<p><strong>Background: </strong>Dysphagia is common worldwide. Mirror neuron-based swallowing interventions provide repetitive, neuromodulatory training that enhances both therapeutic accessibility and efficacy.</p><p><strong>Objectives: </strong>This review systematically synthesizes the neural correlates and clinical applications of mirror neuron-based approaches in dysphagia rehabilitation, with a specific focus on the conceptual definition, neural correlates, and intervention characteristics of mirror therapy for swallowing.</p><p><strong>Methods: </strong>Five databases (PubMed, Web of Science, Cochrane Library, Scopus, and Embase) were searched from inception to March 31, 2026. Studies were included if they involved adults (≥ 18 years), examined swallowing function based on mirror neuron theory, and were published in English. Two reviewers independently performed study selection and data extraction. Data were synthesized narratively.</p><p><strong>Results: </strong>Nineteen studies encompassing 445 participants (aged 18-80 years) were included. Nine studies conceptualized mirror neuron-based interventions for dysphagia across three domains: interventions, mechanisms, and outcomes. Thirteen studies reported neural correlates, demonstrating that action observation, motor imagery, and observation-induced imagery of swallowing activate overlapping brain networks with those engaged during actual swallowing. Six intervention studies showed that two to six weeks of action observation, motor imagery, or their combination improved swallowing function and enhanced cortical activation in premotor and sensorimotor areas.</p><p><strong>Conclusions: </strong>Mirror neuron-based intervention for dysphagia is a rehabilitation technique grounded in mirror neuron mechanisms. Neurophysiological evidence suggests the activation of swallowing-related neural networks, and interventional studies indicate its positive effects, particularly in post-stroke dysphagia.</p><p><strong>Systematic review registration: </strong>https://osf.io/yvqt5.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149031027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dysregulation of mitochondrial bioenergetics, RNA processing, and cellular stress responses in FUS-ALS: a multi-dataset transcriptomic perspective.","authors":"Francisca Walden, Yasna Reihani, Austin Peters, Masood Sepehrimanesh","doi":"10.1007/s10072-026-09412-7","DOIUrl":"10.1007/s10072-026-09412-7","url":null,"abstract":"<p><strong>Background: </strong>Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by motor neuron (MN) degeneration. Mutations in the FUS gene, particularly the aggressive P525L variant, disrupt nuclear localization of the FUS RNA-binding protein, resulting in cytoplasmic accumulation, altered RNA metabolism, and toxic aggregation. Astrocytes also contribute to disease progression through non-cell-autonomous mechanisms.</p><p><strong>Objective: </strong>To identify shared and cell-type-specific molecular mechanisms underlying FUS-associated ALS through integrated transcriptomic analysis of human induced pluripotent stem cell (hiPSC)-derived motor neurons and astrocytes.</p><p><strong>Methods: </strong>Five publicly available RNA-sequencing datasets from hiPSC-derived motor neurons and astrocytes carrying FUS mutations were analyzed. Differential gene expression and Gene Ontology enrichment analyses were performed to identify dysregulated genes and pathways.</p><p><strong>Results: </strong>Both cell types showed convergent dysregulation of mitochondrial/bioenergetic pathways (oxidative phosphorylation, ATP metabolism, translation, membrane potential). Pathway analysis across motor neuron datasets identified largely MN-specific enrichment in cell-cycle regulation, intracellular trafficking, and stimulus response, while only four pathways were shared with astrocytes, most notably NADH dehydrogenase complex assembly, enriched across all datasets and both cell types, marking mitochondrial complex I as the strongest convergent signature. RNA processing/splicing pathways were also enriched, consistent with FUS function. Shared DEGs included upregulated COMT, TXNRD2, and PCDHGB4, and downregulated PCDH17 and C11orf87, implicating neurotransmitter metabolism, antioxidant defenses, and adhesion. Stress pathways (oxidative stress, autophagy, heat-shock, ER stress/UPR) were broadly altered, with UPR genes mainly upregulated and inflammatory genes downregulated.</p><p><strong>Conclusion: </strong>FUS-ALS involves shared mitochondrial complex I and stress-response disturbances layered onto MN-intrinsic cell-cycle and trafficking dysregulation, reflecting convergent and cell-type-specific mechanisms.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149040010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"B-cell targeting strategies for the treatment of multiple sclerosis: from non-cellular therapies to CAR-engineered cell therapies.","authors":"Nilufar Salomova, Lusine G Khachatryan, Aminjon Amonov, Murodjon Normatov, Nasiba Khalmatova, Anvarjon Rashidov, Bekzod Babamuratov","doi":"10.1007/s10072-026-09421-6","DOIUrl":"10.1007/s10072-026-09421-6","url":null,"abstract":"<p><strong>Background: </strong>Accumulating evidence indicates that B-cell lineages play a central role in the pathogenesis of multiple sclerosis (MS). This understanding has reshaped the therapeutic landscape of MS, particularly following the success of anti-CD20 monoclonal antibodies (mAbs), which have become a cornerstone of MS treatment. Despite their efficacy in reducing relapse rates and slowing disability accumulation, current B-cell-depleting therapies have important limitations, including incomplete control of compartmentalized immune responses within the central nervous system (CNS).</p><p><strong>Methods: </strong>This review summarizes the progress and limitations of current and emerging B-cell-targeting strategies for MS. We discuss established non-cellular approaches, including monoclonal antibodies, Bruton's tyrosine kinase (BTK) inhibitors, and B-cell activating factor (BAFF) inhibitors, and examine the rationale, potential advantages, and challenges of emerging chimeric antigen receptor (CAR)-engineered cell therapies.</p><p><strong>Results: </strong>Anti-CD20 mAbs have demonstrated significant clinical efficacy; however, their limited CNS penetration and broad depletion of B-cell populations highlight the need for more targeted approaches. BTK inhibitors represent an emerging strategy to modulate B-cell and myeloid-cell signaling, while BAFF-targeting therapies have provided important insights into the complex role of B-cell survival pathways in MS. CAR-engineered cell therapies have emerged as a promising cellular approach capable of inducing profound and potentially durable depletion of pathogenic B-cell populations, including CNS-resident B-cell subsets.</p><p><strong>Conclusions: </strong>B-cell-targeting therapies continue to expand the therapeutic landscape of MS. Although current non-cellular approaches have improved disease control, their limitations emphasize the need for next-generation strategies. CAR-engineered cell therapies represent a promising frontier with the potential to achieve more sustained immune modulation and address some unmet therapeutic challenges in MS.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149040012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Natural history of 441 cases of bulbar onset motor neuron disease (MND) in China: a single-center retrospective study.","authors":"Jianfeng Ding, Nan Hu, Huihong Tian, Yiying Wang, Dongchao Shen, Xunzhe Yang, Jingwen Niu, Qing Liu, Liying Cui, Mingsheng Liu","doi":"10.1007/s10072-026-09410-9","DOIUrl":"10.1007/s10072-026-09410-9","url":null,"abstract":"<p><strong>Objective: </strong>To describe the natural history and identify prognostic factors of bulbar onset motor neuron disease (MND).</p><p><strong>Methods: </strong>Bulbar onset MND patients with regular follow-up between January 2014 and December 2023 were included. Clinical features at initial evaluation, duration from onset to next region and time to death or tracheotomy were retrospectively collected. Survival analysis was performed by Kaplan-Meier method and Cox regression model.</p><p><strong>Results: </strong>A total of 441 patients were included. Disease progression occurred most frequently from bulbar region to upper limbs (77.1%), followed by lower limbs (16.4%) and respiratory muscles (6.5%), with a median time interval of 6.0 (1.0, 48.0) months. 215 patients died or underwent tracheotomy. The median duration to death or tracheotomy was 43.0 (95% CI 39.1-46.9) months, the 1-year, 2-year, 3-year, 4-year and 5-year survival rates (95%CI) were 96.6% (94.9-98.3), 79.9% (76.0-83.9%), 59.1% (54.0-64.7), 42.2% (36.6-48.6) and 29.9% (24.3-36.7), respectively. Younger onset age, slower ALSFRS-R decreasing rate, longer diagnostic delay, longer duration to next region and pure upper motor neuron involvement at initial evaluation were associated with favorable prognosis. Upper limbs involvement secondly to bulbar region was independently associated with better outcomes compared with respiratory muscles spreading.</p><p><strong>Conclusions: </strong>The natural history of bulbar-onset ALS exhibits substantial heterogeneity. Patients with only upper motor neuron involvement in bulbar region at onset and subsequent upper limbs involvement as the second region tend to have a favorable prognosis.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149030964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perampanel as a candidate for polytherapy in Stage 1 Plus status epilepticus: biological rationale and translational limits.","authors":"Giuseppe Magro, Oreste Marsico, Adriana Saraceno, Federico Tosto","doi":"10.1007/s10072-026-09422-5","DOIUrl":"10.1007/s10072-026-09422-5","url":null,"abstract":"<p><strong>Background: </strong>Stage 1 Plus (S1P) is a proposed operational framework for treatment-naïve status epilepticus (SE) in which first-line treatment with benzodiazepine (BDZ) is unlikely to terminate seizures, thereby suggesting a possible role for early polytherapy. The proposed S1P framework includes candidate high-risk phenotypes associated with early BDZ failure: prolonged SE beyond the proposed semiology-specific treatment threshold, acute symptomatic etiologies (especially primary central nervous system causes), and nonconvulsive SE (NCSE) with coma. Different types and levels of evidence support these phenotypes.</p><p><strong>Translational rationale: </strong>Prolonged SE is associated with rapid, time-dependent receptor trafficking that reduces synaptic inhibition via GABA-A receptors while increasing excitatory receptor availability, including surface recruitment of Ca²⁺-permeable AMPA receptors and increased NMDA receptor signaling. In experimental models, NMDA/AMPA receptor antagonism can retain antiseizure effects, supporting testing of early anti-glutamatergic polytherapy. Human evidence for the AMPA antagonist perampanel (PER) in SE remains largely observational and is concentrated in refractory/super-refractory SE, with frequent late introduction and substantial confounding by concomitant therapies.</p><p><strong>Objective: </strong>This critical translational review examines whether PER is a biologically plausible adjunct to BDZ as an anti-AMPA polytherapy approach in S1P. We discuss whether early combined therapy in treatment-naïve S1P SE may improve seizure termination.</p><p><strong>Conclusions: </strong>Receptor-trafficking models provide a biologically plausible and timing-aligned rationale for BDZ plus AMPA antagonism. Early BDZ plus PER is therefore biologically plausible and deserves prospective testing, but rapid achievement of therapeutic exposure within the proposed S1P window may be limited by enteral administration, and current human evidence is insufficient to support its clinical use in S1P.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149040026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Electroencephalographic changes during hyperbaric oxygen therapy in patients with chronic disorders of consciousness.","authors":"Yinliang Qi, Danni Deng, Jixiang Xu, Hui Liu, Xiaomei Zhou","doi":"10.1007/s10072-026-09411-8","DOIUrl":"10.1007/s10072-026-09411-8","url":null,"abstract":"<p><strong>Background: </strong>Prolonged disorders of consciousness (PDOC) impose a substantial socioeconomic burden, and objective electrophysiological markers that can accompany hyperbaric oxygen therapy (HBOT) remain lacking.</p><p><strong>Methods: </strong>This retrospective self-controlled study analyzed serial quantitative electroencephalographic (qEEG) changes during HBOT, with consciousness assessed by the Coma Recovery Scale-Revised (CRS-R), in patients with PDOC. Resting-state qEEG measures-power spectral density (PSD), permutation entropy (PE), and Lempel-Ziv complexity (LZC)-were obtained before HBOT (T1, baseline), during the first HBOT session (T2), and during the twentieth session (T3). CRS-R scores were assessed before and after the treatment course. Forty PDOC patients were stratified by baseline CRS-R into a higher-level group (CRS-R ≥ 8, n = 14) and a lower-level group (CRS-R < 8, n = 26).</p><p><strong>Results: </strong>PE and LZC increased progressively and significantly from T1 to T3 in every brain region in both groups (all FDR-corrected p < 0.05); for example, frontal PE rose from 0.37 ± 0.01 to 0.66 ± 0.03 in the CRS-R ≥ 8 group and from 0.37 ± 0.03 to 0.62 ± 0.05 in the CRS-R < 8 group, with corresponding frontal LZC increases (0.14 ± 0.01 to 0.30 ± 0.03, and 0.15 ± 0.02 to 0.28 ± 0.04, respectively). PSD was otherwise stable, with a significant change confined to the occipital theta band in the CRS-R < 8 group (F = 6.047, FDR-corrected p = 0.022; T1 vs. T3, p = 0.028). Mean CRS-R improved over the course from 6.3 ± 2.8 to 8.7 ± 3.6 (p < 0.001; CRS-R < 8: 4.5 ± 1.4 to 6.7 ± 1.8; CRS-R ≥ 8: 9.6 ± 2.4 to 12.4 ± 3.2). The increases in EEG entropy and complexity occurred in parallel with the improvement in consciousness, but no formal correlation between qEEG and CRS-R changes was performed.</p><p><strong>Conclusion: </strong>These findings provide adjunctive electrophysiological measures for consciousness assessment and objective information accompanying HBOT as an adjuvant treatment for PDOC; causal or predictive inference awaits controlled studies.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149030978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management of plexiform neurofibromas in neurofibromatosis type 1: An Italian Delphi consensus.","authors":"Claudia Santoro, Elena Arkhangelskaya, Ambra Bonvicino, Irene Bruno, Mario Cirillo, Maria Cristina Diana, Marica Eoli, Flavio Facchini, Franco Ionna, Chiara Leoni, Marina Macchiaiolo, Giuseppe Marulli, Vittoria Nazzi, Sergio Paolini, Eva Trevisson, Martino Ruggieri, Veronica Saletti","doi":"10.1007/s10072-026-09290-z","DOIUrl":"10.1007/s10072-026-09290-z","url":null,"abstract":"<p><strong>Background: </strong>Plexiform neurofibromas (PNs) are among the most complex and challenging manifestations of neurofibromatosis type 1 (NF1). Recent advances in understanding their epidemiology, natural history, biology, and imaging features, together with the introduction of MEK inhibitors, have significantly reshaped clinical management. Despite availability of international recommendations for tumor surveillance in NF1, several aspects of PN management remain incompletely defined in clinical practice.</p><p><strong>Methods: </strong>A multidisciplinary panel of 17 Italian NF1 experts conducted a Real-Time Delphi consensus process including a literature review, thematic analysis, and development of consensus statements. Key domains encompassed diagnosis, imaging assessment, surveillance, surgical evaluation, multidisciplinary management, and treatment of PNs. Two rounds of voting were conducted through a dedicated online platform, ensuring anonymity, real-time feedback, and iterative refinement of the statements.</p><p><strong>Results: </strong>Consensus was achieved on 49 final statements. Key recommendations emphasized the importance of early identification of PNs, assessment of internal tumor burden through whole-body MRI, standardized imaging acquisition and reporting, timely recognition and characterization of distinct nodular lesions, and implementation of risk-adapted surveillance strategies. The panel also underscored the importance of patient education regarding signs suggestive of malignant transformation, and recommended a structured multidisciplinary approach to clinical decision-making. Agreement was additionally reached on practical aspects including radiological follow-up, criteria for surgical referral, definitions of PN-related symptoms, inoperability, and integration of surgical and targeted treatment strategies.</p><p><strong>Conclusions: </strong>This national consensus provides an evidence-informed and clinically oriented framework for management of NF1-associated PNs. Complementing existing international recommendations, it offers practical guidance in areas where evidence remains limited.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13601175/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149031043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}