Neurological Sciences最新文献

{"title":"Long-term real-world effectiveness and safety of fremanezumab in 1140 patients with migraine and at least 6 months of treatment: third interim analysis of the pan-European PEARL study.","authors":"Messoud Ashina, Dimos D Mitsikostas, Faisal Mohammad Amin, Pinar Kokturk, Christoph J Schankin, Gurdal Sahin, Patricia Pozo-Rosich, Paul J Dorman, Tomáš Nežádal, Anne Christine Poole, Isabel Pavão Martins, Marja-Liisa Sumelahti, Verena Ramirez Campos, Andrew H Ahn, Hasan Akcicek, Cristina Tassorelli","doi":"10.1007/s10072-025-08484-1","DOIUrl":"https://doi.org/10.1007/s10072-025-08484-1","url":null,"abstract":"<p><strong>Introduction: </strong>Real-world data on the long-term use of fremanezumab for migraine prevention remain limited. This third interim analysis of the PEARL study addresses this gap by investigating the long-term effectiveness, safety, and tolerability of fremanezumab for up to 12 months of treatment.</p><p><strong>Methods: </strong>PEARL is a 24-month, prospective, observational, Phase 4 study conducted in 11 European countries. Eligible participants were adults (≥ 18 years) diagnosed with chronic or episodic migraine who received subcutaneous fremanezumab (225 mg monthly or 675 mg quarterly) and completed ≥ 6 months of treatment. The primary endpoint was defined as the proportion of participants achieving a ≥ 50% reduction in monthly migraine days (MMD) during the 6-month period following treatment initiation. Secondary endpoints included mean change from baseline to Month 12 in: average MMD, acute migraine medication use, and migraine-related disability scores, as measured by the Migraine Disability Assessment and the 6-item Headache Impact Test. Safety was assessed through the collection of adverse events.</p><p><strong>Results: </strong>At data cut-off (22 September 2022), 968 of 1140 enrolled participants were included in the effectiveness analysis with 58.5% achieving the primary endpoint. Sustained reductions in MMD, acute medication use, and disability scores were observed over 12 months, and no new safety signals were detected.</p><p><strong>Conclusions: </strong>Findings from this third interim analysis of PEARL provide compelling evidence for the long-term effectiveness of fremanezumab in a large, real-world patient population. The results support the continued use of fremanezumab as a preventive strategy for migraine and underscore the value of integrating real-world evidence into migraine management.</p><p><strong>Trial registration number: </strong>EUPAS35111.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145200517","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":"Neurodevelopmental disorder and juvenile-onset tics associated with microdeletion of the SRRM2 gene.","authors":"Andrea E Cavanna, Virginia Caimi, Elisa Capriolo, Gabriele Arienti, Anna Riva, Renata Nacinovich, Stefano Seri","doi":"10.1007/s10072-025-08318-0","DOIUrl":"10.1007/s10072-025-08318-0","url":null,"abstract":"<p><strong>Background: </strong>SRRM2-related neurodevelopmental disorder is a recently described genetic diagnosis caused by loss-of-function variants. The clinical presentation is characterised by a developmental delay with mild intellectual disability, occasionally associated with features of autism spectrum disorder and/or attention-deficit/hyperactivity disorder, as well as inconsistent dysmorphic features, hypotonia, and obesity.</p><p><strong>Case description: </strong>We document the rare case of a 30-year-old man diagnosed with neurodevelopmental disorder and juvenile-onset tics associated with a microdeletion involving the SRRM2 gene. He initially presented with simple motor and vocal tics in early adulthood and subsequently developed handwriting tics and limb posturing (catatonic tics). Tic severity was rated as moderate-to-marked (Yale Global Tic Severity Scale score of 55/100) and treatment recommendations included alpha-2 agonists.</p><p><strong>Discussion: </strong>To date, a total of 37 cases presenting with loss-of-function mutations in SRRM2 have been reported as neurodevelopmental disease-causing mutations. Of these, 21 were males and none had tics as part of their neurodevelopmental manifestations. Our case report widens the spectrum of neurodevelopmental disorders observed in the context of SRRM2 gene microdeletions and prompts further research to disentangle the contributions of genetic and environmental factors to variable phenotypic expressions.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5447-5449"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12488763/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144369019","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":"Ethnographic evaluation of usability, understandability, and acceptance of the MY PD-CARE digital tool to facilitate Parkinson's disease symptom tracking and patients' and care partners' communications with the treating healthcare professional: the SELF-AWARE study.","authors":"Angelo Antonini, Tove Henriksen, Amelia Hursey, Lars Bergmann, Juan Carlos Parra, Per Odin","doi":"10.1007/s10072-025-08342-0","DOIUrl":"10.1007/s10072-025-08342-0","url":null,"abstract":"<p><strong>Background and aim: </strong>The MY PD-CARE digital tool is intended to empower people with Parkinson's disease (PD) and care partners to actively identify and track changes in key symptoms of advancing PD and to facilitate discussions with healthcare professionals (HCPs). MY PD-CARE was adapted from MANAGE-PD, a validated, web-based tool that helps HCPs identify patients with inadequate symptom control. The SELF-AWARE (Study on Ethnographic research and human factors evaLuation For a tool to increase AWareness, self-Assessment, and Reporting of PD patiEnts uncontrolled on oral medication) study investigated MY PD-CARE ease of use, understandability, and acceptance among people with PD and their care partners.</p><p><strong>Methods: </strong>SELF-AWARE was a non-interventional, cross-sectional, observational study. Participants (patients/care partners) assessed MY PD-CARE during 1-time virtual interviews conducted by trained medical anthropologists using qualitative ethnographic and human factor evaluation methods.</p><p><strong>Results: </strong>In 90.7% of interviews (43 patients; 31 care partners), ≥ 1 patient/care partner participant was comfortable with technology. Most participants understood the purpose/objective of MY PD-CARE and agreed it was simple and easy to use. Although the medical terminology was not fully self-explanatory to many participants, half found the glossary helpful. Approximately 60% indicated MY PD-CARE could have more value with free-text input. Participants agreed that MY PD-CARE is useful for tracking symptoms and encouraging discussions with HCPs.</p><p><strong>Conclusions: </strong>People with PD and their care partners perceived MY PD-CARE as useful and acceptable for tracking and increasing awareness of symptoms and facilitating discussions with HCPs. Participant feedback helped optimize the updated design of this digital tool.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5061-5071"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12488775/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144659704","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":"Artificial intelligence empowers physical therapy for neurological conditions.","authors":"Jie Hao","doi":"10.1007/s10072-025-08295-4","DOIUrl":"10.1007/s10072-025-08295-4","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5573-5575"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144258543","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":"A case of rapidly progressive juvenile amyotrophic lateral sclerosis associated with a pathogenetic heterozygous de novo variant in the FUS gene.","authors":"Ilaria Orologio, Antonio Russo, Francesca Trojsi, Vincenzo Todisco, Mario Cirillo, Alessandro Tessitore, Marcello Silvestro","doi":"10.1007/s10072-025-08272-x","DOIUrl":"10.1007/s10072-025-08272-x","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5469-5475"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144216355","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":"Advanced clinical stage Parkinson's disease is linked to proinflammatory and regulatory blood cell populations.","authors":"Eduardo Ichikawa-Escamilla, Raquel Espinosa-Cárdenas, Jaquelin Leyva-Hernández, Diana D Álvarez-Luquín, Asiel Arce-Sillas, Laura Adalid-Peralta","doi":"10.1007/s10072-025-08304-6","DOIUrl":"10.1007/s10072-025-08304-6","url":null,"abstract":"<p><p>The clinical stage of Parkinson's disease (PD) can be assessed using the Hoehn & Yahr (H&Y) and MDS-UPDRS scales. Both neuroinflammation and peripheral inflammation have been linked to advanced PD. This study aimed to investigate changes in the peripheral regulatory and proinflammatory immune response in PD patients and its relationship to advanced disease. Forty-six patients were classified by clinical stage according to H&Y as \"mild,\" \"moderate,\" and \"severe.\" Twenty-two healthy subjects were included as controls. MDS-UPDRS, Beck, and Schwab & England scores were measured in patients and controls. Proinflammatory and regulatory cell populations were quantified by flow cytometry in each group. As expected, total MDS-UPDRS scores and MDS-UPDRS section scores increased significantly with disease severity. Interestingly, decreased counts of activated Tregs, functional Bregs, and IL-10-producing functional Bregs were found in PD patients compared to controls. Such decrease progresses in parallel with the disease in patients. In addition, the level of activated Tregs correlated positively with Schwab & England score. The levels of pro-inflammatory cells (Th2 IL-13 + , Th2 IL-4 + , and Th17 IL6 +) were decreased in patients compared to controls. However, the levels of IL-6 producing Th17 cells showed a significant positive correlation with MDS-UPDRS III score. These results suggest a relationship between the patient's peripheral immune response and developing advanced disease. Patients with higher levels of regulatory cells have a less progressive disease and a better quality of life than those with a peripheral pro-inflammatory profile. Thus, it is necessary to develop therapeutic strategies that contribute to the regulation of inflammation in PD.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5081-5091"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144326334","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":"Facial onset sensory-motor neuronopathy: diagnostic challenges and insights from a case report.","authors":"Özge Uygun, Rümeysa Unkun, Furkan Asan, Ayşegül Gündüz","doi":"10.1007/s10072-025-08307-3","DOIUrl":"10.1007/s10072-025-08307-3","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5555-5557"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144310184","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":"Maximum-Intensity projection on Non-Contrast CT in anterior stroke patients predicts ischemic core volume after mechanical thrombectomy: A retrospective, feasibility study.","authors":"Gianfranco Di Salle, Dario Luca Lauretti, Giacomo Petrucci, Giacomo Lucchi, Mirco Cosottini","doi":"10.1007/s10072-025-08368-4","DOIUrl":"10.1007/s10072-025-08368-4","url":null,"abstract":"<p><p>Acute ischemic stroke (AIS) requires rapid intervention, with ischemic core volume assessment being critical for patients' selection in medical and endovascular treatments. Currently, perfusion CT (CTP) is often used for this purpose, but it requires additional contrast, radiation, and specialized software. This study explores the potential of 8 mm maximum-intensity projection (MIP) reformats of non-contrast CT (NCCT) as an alternative for ischemic core volume estimation. This retrospective study analyzed data from 42 patients with anterior circulation stroke and treated with mechanical thrombectomy between 2021 and 2022. Ischemic core volumes were measured using three methods: manual segmentation of MIP-CT, automated CTP, and follow-up CT scans for final infarct volume (FIV). Correlation and concordance between the methods were assessed using Kendall's tau correlation coefficient, Generalized Linear Models regression, and Bland-Altman plots. MIP-based ischemic core showed higher correlation coefficients with FIV (tau = 0.43) compared to CTP (tau = 0.39). Bland-Altman Analysis showed improved concordance between MIP and FIV, with more regular systematic bias compared to CTP. MIP also demonstrated greater sensitivity in detecting ischemic core, suggesting it may be more reliable than CTP for early stroke assessment. MIP on NCCT provides a reliable, contrast- and radiation-sparing method for ischemic core volume measurement in AIS patients, with performance metrics comparable and possibly superior to CTP in predicting final infarct volume. Further research is warranted to validate these findings in larger, prospective cohorts.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5193-5202"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144668093","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":"Autoimmune 'mickey mouse ears' sign.","authors":"Shugang Cao, Jing Du, Xiaokun Qi, Yanghua Tian","doi":"10.1007/s10072-025-08340-2","DOIUrl":"10.1007/s10072-025-08340-2","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5589-5590"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608926","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":"Electrocardiographic abnormalities in epilepsy: analysis of cardiac conduction patterns and SUDEP Risk.","authors":"Noheir Ashraf Ibrahem Fathy Hassan, Eman A Toraih, Mohab Orz, Rafeek W Elmezayen, Kholoud Ismail, Mohamed Mahmoud Abady Ebeid Wahballah, Belal Mohammed Khedr Moussa Elsharnoubi, Karim Wael Mohamed Elshafey, Reyan Usmani, Rawan Omar, Angelica Ines Lopez Jesus, Deepak Gir, Riya Arora, Youssef Elkareh, Sahir Ijaz, Hani Aiash","doi":"10.1007/s10072-025-08355-9","DOIUrl":"10.1007/s10072-025-08355-9","url":null,"abstract":"<p><strong>Background: </strong>Electrocardiographic (ECG) abnormalities in epilepsy patients may contribute to sudden unexpected death in epilepsy (SUDEP). This systematic review and meta-analysis evaluated the prevalence of ECG abnormalities in epilepsy patients, their age-specific patterns, and association with mortality risk.</p><p><strong>Methods: </strong>Following PRISMA guidelines, we systematically searched major databases through September 2024 for studies reporting ECG findings in epilepsy patients. We analyzed 11 studies (2,775 epilepsy patients, 2,751 non-epileptic subjects) using random-effects models for prevalence rates, mean differences, and conducted age-stratified and mortality analyses.</p><p><strong>Results: </strong>QRS axis deviation emerged as the most robust epilepsy-associated cardiac abnormality, occurring seven-fold more frequently in epilepsy patients compared to controls (23.1% vs 3.2%, p = 0.033). T wave abnormalities showed significantly higher prevalence in epilepsy patients versus controls (31.2% vs 5.0%, p = 0.039). ST segment changes demonstrated a 3.6-fold increased risk in epilepsy patients (RR: 3.55, 95% CI: 1.36-9.22). Age-stratified analysis revealed prolonged QTc was significantly more common in adults compared to pediatric patients (13.5% vs 2.4%, p = 0.04). Mortality analysis showed no significant differences in basic ECG parameters between deceased and surviving epilepsy patients. Basic cardiac parameters including heart rate, PR interval, and QRS duration remained comparable between epilepsy and control groups.</p><p><strong>Conclusions: </strong>Epilepsy patients exhibit distinct cardiac electrical abnormalities, particularly conduction axis and repolarization changes. However, these retrospective findings with substantial heterogeneity represent potential indicators of electrophysiological instability rather than validated SUDEP biomarkers. Rigorous prospective validation is essential before clinical implementation.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"5287-5304"},"PeriodicalIF":2.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144601078","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}