Neurological Sciences最新文献

{"title":"STOP-HSP.net: An Italian formal registry for clinical trial readiness in hereditary spastic paraplegias.","authors":"Sara Satolli, Salvatore Rossi, Leonardo Boccuni, Andrea Martinuzzi, Olimpia Musumeci, Giovanni Rizzo, Elisa Rossi, Gabriella Silvestri, Filippo Maria Santorelli","doi":"10.1007/s10072-025-08067-0","DOIUrl":"10.1007/s10072-025-08067-0","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"2839-2842"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476845","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":"Increased risk of ischemic stroke in amyotrophic lateral sclerosis: a nationwide cohort study in South Korea.","authors":"Soonwook Kwon, Bongseong Kim, Kyung-Do Han, Wonyoung Jung, Eun Bin Cho, Dong Wook Shin, Ju-Hong Min","doi":"10.1007/s10072-025-08074-1","DOIUrl":"10.1007/s10072-025-08074-1","url":null,"abstract":"<p><strong>Background: </strong>We investigated the risk of ischemic stroke in ALS and analyzed the effect of ALS-related physical disability using the Korean National Health Insurance Service database.</p><p><strong>Methods: </strong>A total of 2,251 ALS patients diagnosed between January 1, 2012, and December 31, 2015, and 1:10 age- and sex-matched control populations were included. Cases that participated in the national health check-up programs were selected. A Cox hazard regression model was used to examine the hazard ratios (HRs) for ischemic stroke in ALS after adjusting for potential confounders.</p><p><strong>Results: </strong>A total of 681 ALS patients and 10,934 non-ALS participants were selected. ALS patients were slightly younger than the control group (60.3 ± 10.1 years vs. 61.0 ± 10.5 years, p = 0.105), and the proportion of male patients was similar between the two groups (61.6% vs. 60.9%, p = 0.722). ALS patients were more likely to have a lower body mass index (23.1 ± 2.92 vs. 24.0 ± 3.1, p < 0.001) and obstructive sleep apnea syndrome (0.59% vs. 0.06%, p < 0.001) than the controls. In ALS patients, the incidence rate of ischemic stroke was 6.32 per 1,000 person-years, and the adjusted HR of ischemic stroke was 2.58 (95% confidence interval 1.38 - 4.82) compared with the matched group. The risk of ischemic stroke did not differ by the presence of disability in ALS patients.</p><p><strong>Conclusions: </strong>Our findings suggest that ALS patients have an increased risk of ischemic stroke compared with controls, but the risk did not differ by the presence of disability in ALS.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"2687-2695"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567773","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":"Correlation between non-motor symptoms and eye movements in Parkinson's disease patients.","authors":"Zvonimir Popovic, Tihana Gilman Kuric, Ines Rajkovaca Latic, Sara Matosa, Aleksander Sadikov, Vida Groznik, Dejan Georgiev, Svetlana Tomic","doi":"10.1007/s10072-025-08081-2","DOIUrl":"10.1007/s10072-025-08081-2","url":null,"abstract":"<p><strong>Introduction: </strong>Parkinson's disease (PD) presents with a variety of non-motor symptoms such as sleep disorders, hyposmia, pain, cognitive dysfunction, neuropsychiatric and autonomic symptoms. One of the most neglected motor symptoms is the impairment of eye movements, which occurs in 75% of PD patients. The aim of our study was to investigate the relationship between the severity of non-motor symptoms and the impairment of different types of eye movements.</p><p><strong>Methods: </strong>We conducted a cross-sectional study with idiopathic PD patients in which non-motor symptoms were assessed using standardised scales. The impairment of smooth pursuit, saccades, antisaccades and visually-guided saccades was evaluated with eye-tracker analysis, using battery of tests.</p><p><strong>Results: </strong>The mean age of our subjects was 65.06 (± 9.135; 43-80) years with a median disease duration of 4 (2-7) years. The duration of PD correlated positively with visually-guided memory saccades. We found moderate positive correlations between scales for sleep quality, depression, anxiety, and nonmotor experiences of daily living (PDSS-2, RBDSQ, BAI, BDI-II, MDS-UPDRS I) with deviation of fast smooth pursuit movements and latency of saccades and antisaccades. Number of correct answers in different trials testing visually-guided memory saccades were most strongly negatively correlated with scales assessing depression, sleep quality and cognitive functions (MoCA).</p><p><strong>Conclusion: </strong>Different types of eye movement parameters correlate with scales assessing non-motor symptoms, possibly caused by the same pathophysiological mechanism in PD. Further research that addresses these challenges and focuses on the relationship between eye movements and specific non-motor symptoms in PD could provide valuable insights into the comprehensive management of this complex disease.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"2665-2673"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573540","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":"The relative risk of infection in people with multiple sclerosis using disease-modifying treatment: a systematic review of observational studies.","authors":"M W Y Leung, E M W Van de Garde, B M J Uitdehaag, O H Klungel, M T Bazelier","doi":"10.1007/s10072-025-08018-9","DOIUrl":"10.1007/s10072-025-08018-9","url":null,"abstract":"<p><strong>Background: </strong>Some disease-modifying treatments (DMTs) for multiple sclerosis (MS) increase the risk of infection, but it remains unknown how the risk compares between trials and observational studies.</p><p><strong>Objective: </strong>To assess the current state of observational research on the risk of infection in people with MS and using DMTs.</p><p><strong>Methods: </strong>PubMed and Embase were searched for observational studies published on or before 4 April 2023 describing infection in people with MS, with a comparison of at least 1 DMT to no DMT or another DMT. We examined which DMT contrasts and types of infection were studied and how often; and compared observational results of the most frequently studied DMT to trial data from a network meta-analysis.</p><p><strong>Results: </strong>Out of 5373 search records 22 papers were eligible, of which 5 reported relative risks (RRs). In total, 9 DMTs were studied. Out of 45 possible contrasts, 9 were not studied, and 19 once. The most assessed specific type of infection was neurological (n = 11/22 studies). Natalizumab was the most studied DMT contrasting 7 other DMTs or no DMT, with 12 RRs reported. Point estimates of the RRs (compared to no DMT) for respiratory and urinary tract infections were in opposite direction compared to trial data.</p><p><strong>Conclusion: </strong>Observational study data on the risk of infection in people with MS on DMT are sparse. The growing availability of real-world data on MS and DMT use provides an opportunity to study specific infections on DMT, which is particularly valuable to populations underrepresented in trials.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"2555-2569"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12084263/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370803","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":"The limbic and extra-limbic encephalitis associated with glutamic acid decarboxylase (GAD)-65 antibodies: an observational study.","authors":"Zuying Kuang, José Fidel Baizabal-Carvallo, Marlene Alonso-Juarez, Mohammad Mofatteh, Jamir Pitton Rissardo, Mengqiu Pan, Jinlong Ye, Zhanhang Wang, Yimin Chen","doi":"10.1007/s10072-024-07933-7","DOIUrl":"10.1007/s10072-024-07933-7","url":null,"abstract":"<p><p>We aimed to define the clinical features and outcomes of encephalitis associated with anti-GAD65 Abs. In addition, we reviewed cases published in the literature with GAD65 encephalitis. We retrospectively studied 482 consecutive patients attending a tertiary care center for evaluation of an autoimmune neurological disorder. Nineteen patients were enrolled (3.94% of the cohort). Twelve (63.16%) patients were females, and the mean age at onset of the cohort was 31.68 ± 13.88 years. The following clinical-neuroimaging syndromes were identified: limbic encephalitis (n = 10), limbic plus extra-limbic encephalitis (n = 6), meningoencephalitis (n = 1), extralimbic encephalitis (n = 1), and unclassified (n = 1). The mesial temporal lobes were the most frequently affected (n = 13, 68.42%) in the brain magnetic resonance imaging (MRI), followed by frontal lobes (21%), and insular lobes (21%). Epileptiform discharges (94.4%), mostly from temporal lobes, were the most common electroencephalogram (EEG) finding. Most patients received immunotherapy and were followed for a mean duration of 21 months. A total of 73 patients, including 54 from the literature and 19 presented from the current series, were analyzed. Limbic encephalitis was the predominant presentation, and most patients received immunotherapy. Outcomes varied considerably. Considering patients from the literature and this series (n = 70), mortality was 5.7%. Also, 82.8% of patients had persistent neurologic manifestations, including seizures and cognitive impairment following immunotherapy. Limbic encephalitis is the most common form of GAD65 encephalitis, while a smaller proportion of patients may have signs of extra-limbic involvement. Most patients have persistent manifestations following combined immunotherapy with a relatively low mortality rate.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"2765-2777"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142864912","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":"Severe respiratory alkalosis in a patient with aphasia: an uncommon stroke mimic?","authors":"Odysseas Kargiotis, Klearchos Psychogios, Apostolos Safouris, Athina Andrikopoulou, Georgios Tsivgoulis","doi":"10.1007/s10072-024-07984-w","DOIUrl":"10.1007/s10072-024-07984-w","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"2875-2877"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952280","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 sporadic hemiplegic migraine treated with eptinezumab: should we consider anti-CGRP antibodies for selected patients?","authors":"Pietro Antenucci, Federica Pes, Edward Cesnik, Jay Guido Capone, Marina Padroni","doi":"10.1007/s10072-024-07980-0","DOIUrl":"10.1007/s10072-024-07980-0","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"2883-2885"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142915381","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":"Pontine leukoaraiosis: a neglected cause of diffuse pontine lesions.","authors":"Marialuisa Zedde, Rosario Pascarella","doi":"10.1007/s10072-025-08010-3","DOIUrl":"10.1007/s10072-025-08010-3","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"2879-2882"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143033457","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":"Preventive clipping versus coiling in unruptured intracranial aneurysms: A comprehensive meta-analysis and systematic review to explore safety and efficacy.","authors":"Ali Hammed, Almonzer Al-Qiami, Omar Alomari, Zina Otmani, Salah Hammed, Khalid Sarhan, Mohamed Derhab, Abdelrahman Hamouda, Josef Rosenbauer, Karel Kostev, Gregor Richter, Veit Braun, Christian Tanislav","doi":"10.1007/s10072-024-07963-1","DOIUrl":"10.1007/s10072-024-07963-1","url":null,"abstract":"<p><strong>Background: </strong>Surgical clipping and endovascular coiling are both effective in preventing aneurysmal subarachnoid hemorrhage, but the choice between these interventions remains controversial, leading to treatment disparities across medical centers.</p><p><strong>Methods: </strong>A systematic review and meta-analysis were conducted, including relevant two-arm clinical trials up to September 2023, sourced from Scopus, PubMed, Web of Science, and the Cochrane Library. Our primary outcomes were complete occlusion rates during mid-term and long-term follow-ups. Standard mean differences and risk ratios were used to analyze variations in outcomes. Python meta-analysis with sensitivity testing and regional subgroup analysis was used to resolve heterogeneity.</p><p><strong>Results: </strong>The analysis included 139,485 participants. Clipping demonstrated significantly higher complete occlusion rates in midterm follow-up (RR = 0.83, 95% CI [0.75, 0.91], p = 0.0001) but was associated with a higher risk of procedural complications such as bleeding and ischemic stroke. Coiling showed a higher risk of retreatment (RR = 3.46, 95% CI [1.21, 9.86], p = 0.02), yet it had lower procedural complications (RR = 0.54, 95% CI [0.38, 0.78], p < 0.0009), shorter hospital stays (MD 4.36, 95% CI [2.96, 5.77], p = 0.0001), and better post-procedural outcomes as indicated by lower modified Rankin Scale scores (RR = 0.73, 95% CI [0.55, 0.97], p = 0.03). Long-term occlusion rates were comparable between the two methods.</p><p><strong>Conclusion: </strong>While clipping achieves higher mid-term occlusion rates, coiling is associated with fewer complication rates, shorter hospital stays, and potentially better long-term outcomes. Treatment decisions should be individualized, considering patient-specific characteristics and procedural feasibility.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"2499-2522"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066953","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":"Expanding the phenotypic spectrum of DNM1-related disorders: novel GTPase domain variants and their diverse neurological outcomes.","authors":"Juan Liu, Jihong Hu, Yaqin Duan, Yaqiong Tan, Quwen Gao, Gefei Wu","doi":"10.1007/s10072-024-07974-y","DOIUrl":"10.1007/s10072-024-07974-y","url":null,"abstract":"<p><strong>Background: </strong>Pathogenic DNM1 variants cause early-onset developmental and epileptic encephalopathy (DEE). The GTPase domain of the DNM1 protein has the most commonly affected sites.</p><p><strong>Aim: </strong>This study aimed to delineate additional patients with DNM1-related disorders harboring novel GTPase domain variants.</p><p><strong>Methods: </strong>Trio whole-exome sequencing was performed on three Chinese probands with suspected encephalopathy, and Sanger sequencing was used to confirm the variants. Detailed evaluations were used to assess clinical features. Variant plasmids were constructed in vitro and transfected into cells, and the expression of mutant proteins was evaluated using western blotting (WB).</p><p><strong>Results: </strong>Three de novo heterozygous DNM1 variants were detected in the GTPase domain, namely, NM_004408.4: c.112_120delinsAGCGGCCAC, (p.Gly38_Gln40delinsSerGlyHis), c.457G > A, (p.Glu153Lys), and c.193 A > C, (p.Thr65Pro) in Patients 1, 2, and 3, respectively. Patients 2 and 3 exhibited typical DEE phenotypes with early-onset refractory seizures, profound developmental impairment, intellectual disability, and abnormal electroencephalography findings. However, Patient 1 did not have seizures and her clinical symptoms were autism features, mild hearing loss, subtle changes in the brain, and developmental delays. WB indicated that the expression of plasmids carrying the p.Thr65Pro and p.Glu153Lys variants was not significantly different from that in the wild-type control group and that the expression of the p.Gly38_Gln40delinsSerGlyHis plasmid was elevated.</p><p><strong>Conclusions: </strong>This study expands the genetic and phenotypic spectrum of DNM1-associated disorders and reveals that de novo pathogenic variants in the GTPase domain can lead to divergent neurological outcomes ranging from infantile epileptic encephalopathy syndromes to predominant developmental delays without seizures.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"2809-2817"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425831","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}