Acta neurologica Belgica最新文献

{"title":"Influencing factors and clinical value of anti-aquaporin-4 antibody in cerebrospinal fluid: a study of 82 patients with neuromyelitis optica spectrum disorder","authors":"Jing Peng,&nbsp;Feifei Yu,&nbsp;Xiajun Zhou,&nbsp;Yifan Wu,&nbsp;Kan Wang,&nbsp;Jie Ding,&nbsp;Nan Zhao,&nbsp;Desheng Zhu,&nbsp;Yangtai Guan,&nbsp;Chong Xie","doi":"10.1007/s13760-025-02853-5","DOIUrl":"10.1007/s13760-025-02853-5","url":null,"abstract":"<div><h3>Objective</h3><p>Serum AQP4 antibody (AQP4-IgG) is the causative antibody of neuromyelitis optica spectrum disorder (NMOSD) but AQP4-IgG in cerebrospinal fluid (CSF) has been seldom studied. We aimed to explore the clinical value and influencing factors of CSF AQP4-IgG in NMOSD.</p><h3>Methods</h3><p>In this study, we screened 137 patients with NMOSD diagnosed according to the 2015 International Consensus Diagnostic Criteria (IPND criteria). From this cohort, paired CSF and serum samples were simultaneously collected from 82 patients (including seropositive and seronegative subgroups) for antibody titer measurement. We explored the relationship between CSF AQP4-IgG and patient’s clinical features. Their demographic, clinical, laboratory data and MRI images were collected and analyzed.</p><h3>Results</h3><p>74 patients were seropositive for AQP4-IgG and 8 patients were seronegative. Among the 74 patients seropositive for AQP4-IgG, 46 were CSF-positive and 28 were CSF-negative, while none of the 8 seronegative patients were CSF-positive. CSF AQP4-IgG positive and negative patients showed significant differences in EDSS and relapse status. Out of the 82 patients, 67 patients were during relapse and only patients during relapse were included in the next analysis. Between the CSF-positive and CSF-negative patients, no significant differences were found in EDSS, relapse manifestation, CSF indicators, serum cytokine levels, lymphocyte subsets or MRI lesions. Responses to treatment during relapse and length of hospital stay showed no significant differences either. A positive correlation between the serum and CSF titers (rs: 0.64, <i>p</i> &lt; 0.001) was found. Further binary logistic regression analysis revealed that CSF AQP4-IgG positivity was associated with serum AQP4-IgG titers and EDSS scores.</p><h3>Conclusions</h3><p>CSF AQP4-IgG positivity primarily results from passive diffusion of serum antibodies across the blood-brain barrier, which is different from the CNS-restricted antibody production in MOG-IgG associated disorders (MOGAD). Limited prognostic value of CSF AQP4-IgG was revealed in this study.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"125 5","pages":"1327 - 1334"},"PeriodicalIF":2.1,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144774488","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":"Investigating molecular background of multiple sclerosis through multi-omics: linking via psychoneuroimmunology","authors":"Nadia Islam,&nbsp;Betül Akçeşme","doi":"10.1007/s13760-025-02859-z","DOIUrl":"10.1007/s13760-025-02859-z","url":null,"abstract":"<div><p>This study performs a comprehensive in-silico multi-omic analysis to explore the genetic and molecular mechanisms of Multiple Sclerosis (MS), highlighting its psychoneuroimmunology link to stress-related pathways. High-throughput data from the Gene Expression Omnibus focused on corpus callosum gene expression, a key region in MS pathology. Using GEO2R, significant differentially expressed genes in MS were identified, followed by pathway analysis through KEGG databases to uncover implicated biological pathways. Functional enrichment and network analyses via DAVID and Cytoscape highlighted core biological processes, focusing on heat shock proteins and immune signalling pathways. Additionally, genome-wide association study (GWAS) data identified MS-associated genetic loci, aiding in building a robust multi-omic profile. A protein-protein interaction network using STRING emphasized key stress protein interactions: DNAJB1, HSPA6, HSPB1, and HSPH1. This integrative study provides a detailed framework linking psychoneuroimmunological pathways to MS pathology, identifying potential therapeutic targets and biomarkers, enhancing the understanding of MS’s complex aetiology, and paving the way for novel interventions in stress-related neurological disorders.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"125 5","pages":"1357 - 1371"},"PeriodicalIF":2.1,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144783201","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":"Nervous system tumors as subject of multidisciplinary oncological consult","authors":"Laurens Dobbels,&nbsp;Bernard Hanseeuw,&nbsp;Ludo Vanopdenbosch,&nbsp;Anne Sieben,&nbsp;Patrick Cras","doi":"10.1007/s13760-025-02847-3","DOIUrl":"10.1007/s13760-025-02847-3","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"125 5","pages":"1155 - 1156"},"PeriodicalIF":2.1,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144758882","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":"Endocrinopathy, dystonia, and tremor in a patient with homozygous MRPL49 mutation","authors":"Mehri Salari,&nbsp;Mahdieh Afroozian,&nbsp;Kamran Rezaei,&nbsp;Masoud Etemadifar","doi":"10.1007/s13760-025-02850-8","DOIUrl":"10.1007/s13760-025-02850-8","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"125 5","pages":"1451 - 1453"},"PeriodicalIF":2.1,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144726430","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":"Neck muscle hypertrophy in paramyotonia congenita caused by a missense variant in the SCN4A gene (p.Val445Met).","authors":"Farsana Mustafa, Divyani Garg, Ayush Agarwal, Achal Kumar Srivastava","doi":"10.1007/s13760-025-02849-1","DOIUrl":"https://doi.org/10.1007/s13760-025-02849-1","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144705965","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":"Could serum IGF-1 and IGF-2 serve as potential biomarkers in idiopathic Parkinson’s disease? A correlation with disease stages","authors":"Ezgi Ayse Cakir,&nbsp;Ayşegül Özyılmaz,&nbsp;Merve Alpay,&nbsp;Sare Uyurca","doi":"10.1007/s13760-025-02839-3","DOIUrl":"10.1007/s13760-025-02839-3","url":null,"abstract":"<div><h3>Introduction</h3><p>Idiopathic Parkinson’s Disease (IPD) is a progressive neurodegenerative disorder characterized by tremor, rigidity, akinesia, and postural instability. Dysfunction in lysosomal autophagy, involving proteins like IGF-1(insulin like growth factor) and IGF-2, contributes to neuroinflammation and neuronal death. Reliable biomarkers for IPD diagnosis and monitoring remain elusive. This study investigates serum IGF-1 and IGF-2 levels to evaluate their biomarker potential.</p><h3>Methods</h3><p>Eighty-four individuals (43 IPD patients, 41 controls) aged 18–79 were included. Diagnoses followed the UK Brain Bank Criteria; disease severity was assessed with Hoehn &amp; Yahr (H&amp;Y) and UPDRS scales. Serum IGF-1 and IGF-2 levels were measured using ELISA. Statistical analyses were performed using SPSS v30.0. Normality was assessed via the Shapiro-Wilk test. Based on data distribution, Independent Samples t-test, Mann-Whitney U, Chi-square, Kruskal-Wallis, Spearman correlation, and ROC analysis were applied. A p-value &lt; 0.05 was considered statistically significant.</p><h3>Results</h3><p>Serum IGF-2 levels were significantly higher in patients compared to controls (<i>p</i> = 0.006), while IGF-1 levels showed no significant difference. Both IGF-1 and IGF-2 levels displayed negatively correlated with disease duration (<i>p</i> = 0.044 and <i>p</i> = 0.008). Although IGF-1 and IGF-2 levels appeared elevated at H&amp;Y stage 2, the differences were not statistically significant. No significant associations were observed between IGF levels and UPDRS scores or medication use.</p><h3>Conclusion</h3><p>Elevated serum IGF-2 levels indicate its potential as a biomarker for IPD. These findings contribute to a better understanding of the role of IGF-1 and IGF-2 in IPD pathophysiology, suggesting that further multicenter studies are needed to clarify their diagnostic and therapeutic potential.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"125 4","pages":"1083 - 1090"},"PeriodicalIF":2.1,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144681787","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":"Estimated glucose disposal rate is correlated with decreased parkinson's disease: a population-based study.","authors":"Wenting Hu, Hai Liu, Ying Zhang, Huanxian Liu","doi":"10.1007/s13760-025-02845-5","DOIUrl":"https://doi.org/10.1007/s13760-025-02845-5","url":null,"abstract":"<p><strong>Background: </strong>Increasing evidence suggests that insulin resistance (IR) plays a key role in Parkinson's disease (PD). This study aimed to investigate the relationship between the estimated glucose disposal rate (eGDR), a practical and noninvasive measure for assessing IR, and PD prevalence.</p><p><strong>Methods: </strong>We conducted a population-based cross-sectional study using data from the National Health and Nutrition Examination Survey (NHANES) 1999-2020. Weighted multivariable logistic regression was used to examine the association between eGDR and PD, adjusting for confounders. A restricted cubic spline (RCS) model was employed to examine the possible non-linear dose-response relationship. Subgroup analysis and sensitivity analysis were conducted to validate the robustness of the results.</p><p><strong>Results: </strong>A total of 37,951 adults aged 20 years or older were included in the study. A significant inverse association between eGDR and PD prevalence was observed. Each 1-unit increase in eGDR was associated with a 17% reduction in the likelihood of PD (OR = 0.73, 95% CI: 0.62, 0.85, P < 0.001). Participants with the higher eGDR (4-5.99, 6-7.99, and ≥ 8 mg/kg/min) had a significantly lower prevalence of PD compared to those with the lowest eGDR (< 4 mg/kg/min). The reductions in PD prevalence were 58% (OR = 0.42; 95% CI: 0.24, 0.74; P = 0.003), 56% (OR = 0.44; 95% CI: 0.25, 0.77; P = 0.004), and 79% (OR = 0.21; 95% CI: 0.06, 0.68; P = 0.010), respectively. RCS analysis indicated a linear inverse association between eGDR and PD prevalence. Subgroup and sensitivity analyses further confirmed the consistency of these findings.</p><p><strong>Conclusion: </strong>Higher eGDR, reflecting improved insulin sensitivity, is associated with a reduced prevalence of PD.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144658074","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 telerehabilitation in reducing motor disability and enhancing quality of life in parkinson's disease: a systematic review and meta-analysis.","authors":"Anas Zakarya Nourelden, Mohamed Mamdouh, Ibrahim Kamal, Osama Khalid Abdelgawad Ahmed, Adel Reda Abd Elwahab, Mohammed Elkholy, Abdelrahman G Tawfik, Mohamed Hesham Gamal, Ahmed Hashem Fathallah","doi":"10.1007/s13760-025-02838-4","DOIUrl":"https://doi.org/10.1007/s13760-025-02838-4","url":null,"abstract":"<p><strong>Objective: </strong>This review and meta-analysis explored the effectiveness of telerehabilitation in reducing motor disability and improving quality of life in patients with Parkinson's disease (PD).</p><p><strong>Background: </strong>PD is characterized by motor and non-motor symptoms. Motor function decline averages 3-5 points per year on the Unified Parkinson's Disease Rating Scale, Part III (UPDRS-III). Sedentary behavior worsens symptoms, while exercise improves motor function and quality of life. Telerehabilitation has proven effective in increasing exercise adherence in PD patients.</p><p><strong>Methods: </strong>We searched Web of Science, Cochrane, PubMed, Scopus, and Embase for relevant articles till June 2024, including studies that compared telerehabilitation to no exercise, traditional face-to-face rehabilitation, or any studies with no comparator group. Data were pooled using a random effects model, and differences were presented using mean differences (MD) alongside 95% confidence intervals (CI).</p><p><strong>Results: </strong>This review included 44 articles with 1614 participants. In assessing the quality of studies, four cohort/cross-sectional studies were rated fair, one good; one case-control study was good. Eight single-arm and four NRCTs were good, and the others were of fair quality. All 20 RCTs had a high risk of bias; one case report was deemed to have fair quality.Double-arm studies demonstrated no significant difference between telerehabilitation and in-person programs regarding UPDRS-III scores (MD: 0.69). Pooled Parkinson's Disease Questionnaire (PDQ)-39 scores exhibited the same non-significant pattern, but in longer-duration programs, telerehabilitation demonstrated a significant edge (MD:-5.45). Similarly, the difference between telerehabilitation and traditional exercise was not significant in PDQ-8 scores, nonetheless, TUG times were significantly shorter for telerehabilitation (MD: 1.17). In the single-arm analysis of telerehabilitation, UPDRS-III scores showed an improvement (MD:-2.58). Likewise, PDQ-39 scores decreased significantly (MD:-2.98). Both PDQ-8 scores (MD:-5.52) and Timed Up and Go Test (TUG) times (MD:-2.15) decreased significantly, while Activities-specific Balance Confidence (ABC) scores improved (MD: 8.65%).</p><p><strong>Conclusion: </strong>Telerehabilitation decreases the progress in motor disability and improves the quality of life in PD patients, possibly due to increased exercise adherence, while costing less than in-person exercise.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144641396","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":"Bilateral middle cerebellar peduncle infarcts in a patient with systemic lupus erythematosus","authors":"Sandra Perillo,&nbsp;Francesco Barbato,&nbsp;Teresa Perillo,&nbsp;Lorenzo Pinto,&nbsp;Fabio Giuliano Numis","doi":"10.1007/s13760-025-02842-8","DOIUrl":"10.1007/s13760-025-02842-8","url":null,"abstract":"<div><p>Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease with multiorgan involvement, including the central nervous system. Neuropsychiatric manifestations (NPSLE) are observed in a significant proportion of patients and may include ischemic strokes, often related to antiphospholipid syndrome (APS) or small vessel vasculitis. We report the case of a 38-year-old woman who presented to the emergency department with acute dysarthria and a history of fever. Brain imaging demonstrated multiple subacute ischemic lesions affecting the bilateral middle cerebellar peduncles and frontal regions, and diffuse leukoencephalopathy. Laboratory investigations revealed high-titer antinuclear, anti-dsDNA, anticardiolipin antibodies, and lupus anticoagulant. The overall clinical, radiological, and immunological profile was consistent with neuropsychiatric SLE. The possible underlying causes of ischemic events were antiphospholipid syndrome and small vessel vasculitis. This case highlights the importance of considering NPSLE in the differential diagnosis of diseases involving bilateral middle cerebellar peduncles. Early recognition and therapy of NPSLE are crucial for improving outcomes in this complex clinical scenario.</p></div>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"125 4","pages":"1139 - 1143"},"PeriodicalIF":2.1,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144641395","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":"Identification of a novel MTM1 pathogenic variant in neonatal X-linked centronuclear myopathy: a case report from East Asia","authors":"Wei Xiong,&nbsp;Qi Chen","doi":"10.1007/s13760-025-02840-w","DOIUrl":"10.1007/s13760-025-02840-w","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":"125 5","pages":"1445 - 1449"},"PeriodicalIF":2.1,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144607093","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}