Acta neurologica Belgica最新文献

{"title":"Correction: Comparative assessment of endoscopic and microsurgery resection for intracranial ventricular tumors: a meta-analysis of 3059 patients.","authors":"Sandra Thair Al-Aish, Abbas F Abdul Hussein, Ahmed Sermed Al Sakini, Mohamed Rifai, Mustafa L Alshareefi, Mohammad Al Diab Al Azzawi, Khalid Sarhan, Hazim Alkousheh, Zineddine Belabaci, Arwa Jader, Santiago Pastrana-Brandes, Sameh Elmorsy Hassan","doi":"10.1007/s13760-025-02848-2","DOIUrl":"https://doi.org/10.1007/s13760-025-02848-2","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144787982","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":"\"Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study\".","authors":"Ellen Rijckmans, Lars De Strooper, Kathelijn Keymolen, Jessica Rosenblum, Bart Loeys, Marije Meuwissen, Anna C Jansen, Katrien Stouffs","doi":"10.1007/s13760-025-02858-0","DOIUrl":"https://doi.org/10.1007/s13760-025-02858-0","url":null,"abstract":"<p><strong>Background: </strong>Filamin A (FLNA) is an actin-binding protein involved in cytoskeleton organization and cell migration. Loss-of-function (LOF) variants give rise to a wide variety of symptoms with periventricular nodular heterotopia (PVNH) and epilepsy as the most common features. FLNA deficiency manifests as a multisystemic disorder with abnormalities of connective tissue and involvement of the cardiovascular, pulmonary, gastrointestinal and hematological system. Affected individuals need a multidisciplinary follow-up, but guidelines are lacking. Here, we present findings from a monocentric cross-sectional cohort study as a basis for improving clinical practices and surveillance for individuals with FLNA deficiency.</p><p><strong>Results: </strong>24 index patients with FLNA deficiency were identified. In the cohort, 23 patients exhibited clinical features of PVNH, while one individual presented with congenital pulmonary airway malformation (CPAM). The incidence of clinical features such as epilepsy (84%) and cardiovascular involvement (56%) align with previously published cohorts. Systematic multidisciplinary follow-up, particularly regular cardiological screening, was lacking in a significant number of individuals. Additionally, lesser-known symptoms such as constipation and thrombocytopenia were underreported, highlighting the need for comprehensive phenotypic assessment in FLNA deficiency.</p><p><strong>Conclusion: </strong>The incidence of clinical features in this tertiary cohort aligns with existing literature. The absence of uniform and multidisciplinary guidelines hampers effective surveillance and management. Implementation of regular cardiological screening and increased awareness of less overt symptoms could improve medical outcomes for individuals with pathogenic FLNA variants.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144774486","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":"Neurocognitive correlates of physical activity in multiple sclerosis: metacognition and cognitive flexibility.","authors":"Emine İpek Halatcı, Hilal Aslan, Aybike Erkoç, Nezehat Özgül Ünlüer, Gönül Vural","doi":"10.1007/s13760-025-02851-7","DOIUrl":"https://doi.org/10.1007/s13760-025-02851-7","url":null,"abstract":"<p><strong>Purpose: </strong>Multiple sclerosis (MS) is a neurological condition that can impair both physical and cognitive impairments. The aim of this study, to compare physical activity (PA) levels, cognitive flexibility, metacognition and attention skills between individuals with MS and healthy individuals and to examine the relationship between PA and cognitive flexibility, metacognition and attention skills. The comparison of these abilities with healthy individuals enables the identification of MS-related functional deficits and supports the development of appropriate intervention programs.</p><p><strong>Methods: </strong>This cross-sectional study consisted of two groups. The study group included 35 individuals with relapsing remitting type MS who were diagnosed with MS by a neurologist. The control group included 33 healthy volunteers. Both groups were evaluated in terms of demographic information, PA level (International Physical Activity Questionnaire (IPAQ)), cognitive flexibility (The Cognitive Flexibility Inventory (CFI)), metacognition (The Metacognitions-30 Scale (MCS-30)) and attention (Stroop test-TBAG Form (STT) and the Trail Making Test (TMT) status of the participants. The differences between the two groups regarding these parameters were assessed, and their relationship with PA level in individuals with MS was examined.</p><p><strong>Results: </strong>The two groups were similar in terms of age, gender and body mass index (p > 0.05). Compared to healthy controls, individuals with MS had lower IPAQ score and CFI scores (p < 0.05) and higher scores on MCS-30 (p < 0.05). Individuals with MS had higher STT and TMT completion times than healthy individuals in all sections (p < 0.05). There was a low statistically significant negative correlation between the IPAQ scores of individuals with MS and the completion times of the fourth and fifth parts of the Stroop Test (r=-0.364, -0.402; p < 0.05).</p><p><strong>Conclusion: </strong>PA level, cognitive flexibility, metacognition and attention are negatively affected in individuals with MS. Therefore, in addition to routine assessments, it is important to perform detailed PA level and cognitive assessment in individuals with MS in order to plan rehabilitation.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144783203","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":"Co-occurrence of Wilson's Disease and Spinocerebellar Ataxia Type 3 in a Chinese Patient.","authors":"Lei Xu, Zhi-Feng Hou, Yan-Xin Wang, Ming-Zhu Ni, Chuan-Feng Zhang","doi":"10.1007/s13760-025-02852-6","DOIUrl":"10.1007/s13760-025-02852-6","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144774487","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":"Navigating pediatric post-stroke epilepsy: comparative assessment of treatment strategies.","authors":"Çağatay Günay, Semra Hız Kurul, Uluç Yiş, Adem Aydın, Ayşe İpek Polat","doi":"10.1007/s13760-025-02855-3","DOIUrl":"10.1007/s13760-025-02855-3","url":null,"abstract":"<p><strong>Background: </strong>Although post-stroke epilepsy (PSE) is a prevalent complication in children, optimal management remains challenging. This study evaluated the impact of different treatment modalities and antiseizure medications (ASM) on the development and management of pediatric PSE following arterial ischemic stroke.</p><p><strong>Methods: </strong>We conducted a retrospective cohort analysis over 20 years, examining pediatric patients who experienced seizures during the course of arterial ischemic stroke. Exclusions included neonatal stroke, hemorrhagic stroke, and sinovenous thrombosis. Cut-off point of seven days were accepted as early seizures and PSE. Treatments included acute stroke therapies such as intravenous tissue plasminogen activator, mechanical thrombectomy, anti-edema therapies, and antithrombotic treatments. Medications for seizure control were categorized as acute seizure management agents (benzodiazepines and phenytoin), which are not used for long-term post-stroke epilepsy control, and long-term antiseizure medications (levetiracetam and carbamazepine) for PSE management.</p><p><strong>Results: </strong>Among 153 patients, 99 were male, with a median age of 23 months. PSE was diagnosed in 59.5% of the cohort. Cardiac disorders were the primary etiology (32.7%). Hyperacute treatments and anti-edema therapies showed no significant impact on PSE development. Benzodiazepines and phenytoin also did not affect PSE rates. Levetiracetam was associated with a higher PSE rate (66.7%) compared to carbamazepine (45.1%) (p = 0.010). Carbamazepine demonstrated superior seizure freedom at 6 and 24 months (p = 0.024 and p = 0.014, respectively). Seizure control was achieved in 19.8% of PSE patients through dose titration, with carbamazepine showing higher efficacy (p = 0.037). ASM discontinuation rates were higher with carbamazepine (95.7%) compared to levetiracetam (79.4%).</p><p><strong>Conclusion: </strong>Acute stroke therapies, anti-edema, and antithrombotic treatments did not lower the PSE development. Benzodiazepines and phenytoin were not effective in preventing PSE. Carbamazepine may be more effective than levetiracetam in managing pediatric PSE, providing better seizure control and higher ASM discontinuation rates. Further research is needed to confirm these findings.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144783202","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":"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, Feifei Yu, Xiajun Zhou, Yifan Wu, Kan Wang, Jie Ding, Nan Zhao, Desheng Zhu, Yangtai Guan, Chong Xie","doi":"10.1007/s13760-025-02853-5","DOIUrl":"https://doi.org/10.1007/s13760-025-02853-5","url":null,"abstract":"<p><strong>Objective: </strong>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><p><strong>Methods: </strong>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><p><strong>Results: </strong>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, p < 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><p><strong>Conclusions: </strong>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>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"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, Betül Akçeşme","doi":"10.1007/s13760-025-02859-z","DOIUrl":"https://doi.org/10.1007/s13760-025-02859-z","url":null,"abstract":"<p><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>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"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":"Assessment of psychological resilience in adult patients with epilepsy: a cross-sectional study.","authors":"Qing Fu, Yue Huang, De-Feng Liu","doi":"10.1007/s13760-025-02856-2","DOIUrl":"https://doi.org/10.1007/s13760-025-02856-2","url":null,"abstract":"<p><strong>Background: </strong>Psychological resilience plays a crucial role in the quality of life and mental health of patients with epilepsy (PWE). However, there is limited research on the factors influencing psychological resilience in Chinese PWE. This study aimed to investigate the determinants of psychological resilience in PWE and explore the relationship between neurological health status and resilience.</p><p><strong>Methods: </strong>A cross-sectional study was conducted with 80 PWE recruited from a single center in China. Psychological resilience was assessed using the Connor-Davidson Resilience Scale (CD-RISC), and neurological health status was evaluated using the Neurological Health Status Scale (NHS3). Demographic and clinical data, including age, gender, education level, marital status, employment status, monthly household income, residential area, disease duration, seizure type, and seizure frequency, were collected. Multiple linear regression analysis was performed to identify factors associated with psychological resilience.</p><p><strong>Results: </strong>The mean CD-RISC score for PWE was 51.3 ± 11.12. Univariate analysis showed that male gender, higher education level, married status, urban residence, shorter disease duration (≤ 5 years), focal seizures, lower seizure frequency (1-3 times per month), and absence of status epilepticus history were associated with higher resilience scores. Multiple linear regression analysis identified gender (P = 0.012), education level (P = 0.013), disease duration (P = 0.001), seizure frequency (P = 0.001), and NHS3 score (P = 0.031) as significant predictors of psychological resilience. The model was statistically significant (F = 16.217, p < 0.001) and explained 67.6% of the variance (R²=0.676).</p><p><strong>Conclusion: </strong>This study highlights the key factors influencing psychological resilience in Chinese PWE, emphasizing the impact of gender, education level, disease duration, seizure frequency, and neurological health status. The findings suggest that targeted psychological interventions, educational support, and improved healthcare access are crucial for enhancing resilience in PWE. Additionally, addressing social stigma and promoting epilepsy awareness in China may further improve the psychological well-being of patients.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144768279","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, Bernard Hanseeuw, Ludo Vanopdenbosch, Anne Sieben, Patrick Cras","doi":"10.1007/s13760-025-02847-3","DOIUrl":"https://doi.org/10.1007/s13760-025-02847-3","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"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, Mahdieh Afroozian, Kamran Rezaei, Masoud Etemadifar","doi":"10.1007/s13760-025-02850-8","DOIUrl":"https://doi.org/10.1007/s13760-025-02850-8","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"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}