Acta Neurologica Scandinavica最新文献

{"title":"Hereditary Ataxias: A Genetic Epidemiological Study of a Danish Clinical Cohort","authors":"Jesper Dybdal Kayser,&nbsp;Rosa Dam Waerling,&nbsp;Suzanne Granhøj Lindquist,&nbsp;Morten Duno,&nbsp;Jørgen Erik Nielsen,&nbsp;Tua Vinther-Jensen","doi":"10.1155/ane/1614771","DOIUrl":"https://doi.org/10.1155/ane/1614771","url":null,"abstract":"<p><b>Background:</b> Ataxia, characterized by incoordination of movement, presents a diverse etiological spectrum, including genetic forms such as spinocerebellar ataxias (SCAs), Friedreich’s ataxia (FRDA), and other hereditary ataxias. Identifying and understanding the distribution of the genetic subtypes in specific populations are crucial for clinical management, genetic counseling, and prognostication.</p><p><b>Objective:</b> This study is aimed at investigating the genetic epidemiology of hereditary ataxias in a clinical cohort from Eastern Denmark, focusing on the prevalence and distribution of the genetic ataxias.</p><p><b>Methods:</b> We conducted a chart review of 297 patients diagnosed with ataxia from the two major referral centers in Eastern Denmark between 2018 and 2023. Diagnoses were divided into groups: <i>confirmed</i> genetic ataxia, <i>presumed</i> genetic ataxia (no genetic variant identified, positive family history) and <i>possible</i> genetic ataxia (debut before the age of 40, no family history), <i>sporadic adult-onset ataxia</i> (<i>SAOA</i>) (debut after the age of 40, no family history), and <i>multiple system atrophy</i>–cerebellar type (MSA-C)). Data collected included demographics, clinical features, age of onset, and results of genetic testing.</p><p><b>Results:</b> Of the 297 patients, 144 (48.5%) had a confirmed genetic ataxia, 26 (8.8%) were classified as presumed genetic ataxia, and 19 (6.4%) were categorized as possible genetic ataxia. The most common subtypes were SCA6, SCA2, and SCA3. The study revealed notable differences in the prevalence of specific ataxia subtypes compared to global patterns.</p><p><b>Conclusion:</b> This study provides an overview of the epidemiology and genetic landscape of hereditary ataxias in Denmark. The high prevalence of SCA6 and unique distribution patterns emphasizes the need for population-specific data to guide clinical practice. Ongoing trials for SCA1 and SCA3 highlight the importance of understanding the epidemiology of ataxias across different countries to establish trial-ready cohorts and address future treatment needs.</p>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2025 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/1614771","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144589901","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impulsivity in Male Episodic Cluster Headache","authors":"Joana Rodríguez-Montolío,&nbsp;Javier Cajape-Mosquera,&nbsp;Belén del Moral-Sahuquillo,&nbsp;Miriam Lasry-Mizzi,&nbsp;Elena Bellosta-Diago,&nbsp;Sonia Santos-Lasaosa","doi":"10.1155/ane/5587883","DOIUrl":"https://doi.org/10.1155/ane/5587883","url":null,"abstract":"<p><b>Background:</b> Cluster headache (CH) is the most prevalent trigeminal-autonomic cephalalgia. Research evidence supports the hypothesized involvement of the posterior hypothalamus, the trigeminal-vascular system, and other central pain-processing regions in the pathogenesis of pain. Because of the role of the hypothalamus, CH patients should be at greater risk of developing an altered emotional response. Impulsivity is associated with depression, bipolar disorders, suicide attempts, and addictive disorders, which can be frequent in CH.</p><p><b>Objective:</b> Our objective is to evaluate the prevalence of impulsivity in CH patients.</p><p><b>Methods:</b> This is a cross-sectional observational study. Barratt Impulsiveness Scale (BIS-11) was administered to evaluate impulsivity.</p><p><b>Results:</b> Fifty CH patients outside the bout and 60 matched controls were included. Patients were recruited from an outpatient headache unit. The percentage of episodic CH patients with a diagnosis of impulsivity (BIS-11 ≥ 73) was 14.2% compared to 1.6% in the control group (<i>p</i> = 0.02). The mean score on the BIS-11 was 58.5 (SD: 14.3) in the case group and 57.1 (SD: 9.2) in the control group. Although the global score on the scale did not differ between both groups, there were differences in cognitive (16.2 [SD: 4.4] vs. 14.5 [SD: 3.5]; <i>p</i> = 0.01) but not in motor and nonplanning impulsivity.</p><p><b>Conclusion:</b> Our findings suggest that CH patients have greater cognitive impulsivity. If impulsivity plays an important role in the risk of suicide and substance use disorders, early detection and an effective multidisciplinary management could reduce CH-related burden and impact.</p>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2025 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/5587883","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144492743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enlarged Perivascular Space Burden Predicts the Risk of Relapse in Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Patients","authors":"Ya Chen,&nbsp;Xia Zhang,&nbsp;Chengyu Pan,&nbsp;Zhongxiang Xu,&nbsp;Zucai Xu","doi":"10.1155/ane/8858684","DOIUrl":"https://doi.org/10.1155/ane/8858684","url":null,"abstract":"<p><b>Background and Objectives:</b> Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is an immune-mediated inflammatory demyelinating disease of the central nervous system, with a complex relapse mechanism involving various factors. The connection between enlarged perivascular spaces (EPVSs) and MOGAD is currently unclear. This study is aimed at exploring the risk factors associated with an increased number of EPVS in MOGAD patients and the association with relapse.</p><p><b>Methods:</b> A retrospective study was conducted on 23 patients with MOGAD. We analyzed the correlation between the number of EPVS and age, disease duration, cerebrospinal fluid (CSF) leukocytes, CSF protein, EDSS scores, albumin quotient, and MOG-IgG titer. We employed linear regression to assess the independent risk factors for the number of EPVS, and Cox regression was used to elucidate the independent factors associated with relapse.</p><p><b>Results:</b> The median total EPVS counts were 8 (IQR 4–9) at the initial brain MRI in patients with MOGAD. The number of total EPVS in patients with MOGAD was significantly positively correlated with CSF protein (<i>ρ</i> = 0.42, <i>p</i> = 0.044), EDSS (<i>r</i> = 0.74, <i>p</i> &lt; 0.0001), QAlb (<i>ρ</i> = 0.48, <i>p</i> = 0.022), serum MOG-IgG titer (<i>ρ</i> = 0.48, <i>p</i> = 0.019), and CSF MOG-IgG titer (<i>ρ</i> = 0.46, <i>p</i> = 0.029). Univariate linear regression analysis indicated that CSF protein (<i>β</i> = 0.45, <i>p</i> = 0.03), EDSS scores (<i>β</i> = 0.6, <i>p</i> = 0.002), serum MOG-IgG titer (<i>β</i> = 0.51, <i>p</i> = 0.014), and CSF anti-MOG-IgG titer (<i>β</i> = 0.64, <i>p</i> = 0.001) were independent factors associated with EPVS counts. EDSS scores (<i>β</i> = 0.49, <i>p</i> = 0.002) and CSF MOG-IgG titer (<i>β</i> = 0.54, <i>p</i> = 0.001) were independent predictors associated with EPVS count in the multivariable linear regression model. Multivariable Cox regression analysis showed that the total number of EPVS was the only variable that revealed a significant effect on relapse (HR = 1.22, 95% CI 1.01–1.47, <i>p</i> = 0.04).</p><p><b>Conclusion:</b> In our cohort, we preliminary explored independent risk factors for increased EPVS. Moreover, EPVS might independently predict the risk of relapse in patients with MOGAD.</p>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2025 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/8858684","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144472888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Insights Into Anti-Sulfatide Antibodies in Peripheral Neuropathies: A Retrospective Study","authors":"Ruo-Nan Duan,&nbsp;Wei-Yue Si,&nbsp;Ying Liu,&nbsp;Yi-Ming Liu,&nbsp;Rui-Sheng Duan","doi":"10.1155/ane/8906829","DOIUrl":"https://doi.org/10.1155/ane/8906829","url":null,"abstract":"<p><b>Background:</b> Sulfatide, synthesized from glycosphingolipids via sulfation of the hydroxyl group, is a prominent lipid antigen in both the peripheral and central nervous systems. Anti-sulfatide antibodies are detected in axonal and demyelinating neuropathies and are generally regarded as concomitant antibodies. However, their pathogenic role and precise diagnostic relevance remain unclear.</p><p><b>Methods:</b> This double-center retrospective observational study tested anti-sulfatide and antiganglioside antibodies using immunoblot assays in serum and/or cerebrospinal fluid (CSF) from patients suspected of having peripheral neuropathy. Clinical symptoms, laboratory findings, and electrophysiological results were reviewed for patients with anti-sulfatide antibodies.</p><p><b>Results:</b> The most common symptoms in adult-onset patients with anti-sulfatide antibody included motor weakness (81.25%) and superficial sensory disturbances (68.75%). Patients with anti-sulfatide antibodies in the CSF exhibited a higher frequency of CSF albuminocytological dissociation. Positive blood rheumatic antibodies and factors were more prevalent in seropositive patients. Electrophysiological findings revealed both axonal and demyelinating changes in these patients. Intravenous corticosteroids, immunoglobulins, and plasmapheresis proved effective treatments.</p><p><b>Conclusions:</b> The clinical manifestations of patients with anti-sulfatide antibodies are highly heterogeneous. Anti-sulfatide antibodies cause axonal and demyelinating damage in autoimmune peripheral neuropathy, presenting distinct clinical and electrophysiological features.</p>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2025 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/8906829","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144339475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of Factors Related to the Severity of Basal Ganglia Aphasia and Quality of Life in Patients With Postcerebral Hemorrhage","authors":"Kai Chen,&nbsp;Jingyi Li,&nbsp;Kai Zhao,&nbsp;Xiaoguang Cao,&nbsp;Hai Yuan,&nbsp;Xiumin Wang,&nbsp;Shaowei Wu,&nbsp;Qi’er Wu,&nbsp;Yong Mu","doi":"10.1155/ane/9981519","DOIUrl":"https://doi.org/10.1155/ane/9981519","url":null,"abstract":"<p><b>Objective:</b> The objective of the study is to explore the related factors of the severity of basilar aphasia and quality of life in patients with cerebral hemorrhage.</p><p><b>Methods:</b> A retrospective analysis was conducted on 95 patients with left basal ganglia hemorrhage and aphasia, treated at our hospital from October 2021 to December 2023. Data collected included demographic information, disease-related details, and speech therapy outcomes. Multiple regression analysis and partial correlation were used to assess factors affecting aphasia severity and quality of life, with the Chinese Standard Aphasia Examination Scale and the Chinese version of the Stroke Aphasia Quality of Life Scale as outcome measures.</p><p><b>Results:</b> Multiple regression analysis showed that the amount of bleeding, surgery, complications, duration of unconsciousness, Loewenstein Occupational Therapy Cognitive Assessment (LOTCA) score, and Stroke Aphasic Depression Questionnaire Hospital Version (SADQ-H) score may be correlated with the total score of the Chinese Standard Aphasia Checklist (<i>p</i> &lt; 0.05), while the course of disease, years of education, course of disease at the time of speech therapy intervention, LOTCA score, and SADQ-H score were related to the quality of life score of patients (<i>p</i> &lt; 0.05).</p><p><b>Conclusion:</b> The amount of bleeding, whether surgery is performed, complications, duration of impaired consciousness, LOTCA score, and SADQ-H score can be used as predictive factors for the severity of aphasia in patients; the course of disease, years of education, course of disease during speech therapy intervention, LOTCA score, and SADQ-H score can be used as predictive factors for the life quality of aphasia patients.</p>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2025 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/9981519","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144273440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of the Clinical and Prognostic Characteristics of Myasthenia Gravis Patients Followed Up in a Tertiary Neuromuscular Disease Center in Thrace Region of Turkey","authors":"Abdullah Uyar,&nbsp;Enes Durak,&nbsp;Nilda Turgut","doi":"10.1155/ane/6259666","DOIUrl":"https://doi.org/10.1155/ane/6259666","url":null,"abstract":"<p><b>Objective:</b> This study is aimed at comparing the clinical, serological, and prognostic characteristics of myasthenia gravis (MG) subtypes based on data obtained from patients monitored at a tertiary neuromuscular disease center in Türkiye, within the framework of MGFA and MGFA-PIS classifications. The limited number of published studies from Türkiye in this field enhances the originality and potential contribution of this study to the regional literature on the local patient profile.</p><p><b>Methods:</b> A total of 190 patients who were monitored between 2012 and 2023 and diagnosed with MG according to clinical, serological, or electrophysiological criteria were included in the study. Patients were classified according to antibody profile, involved muscle group, and age at disease onset. Clinical and demographic characteristics, treatment strategies, and prognosis were assessed.</p><p><b>Results:</b> In the classification of MG based on age at onset, 78.3% of patients in the early-onset MG (EOMG) subgroup were female, while 57.9% of those in the late-onset MG (LOMG) subgroup were male (<i>p</i> &lt; 0.001). Significant differences were found between the EOMG and LOMG groups in the use of azathioprine and corticosteroids (<i>p</i> = 0.006 and <i>p</i> = 0.002, respectively). LOMG was more frequently observed in both the ocular MG (OMG) and generalized MG (GMG) groups. Electrophysiological abnormalities were detected more frequently in the GMG group (<i>p</i> = 0.045). Among patients initially diagnosed with OMG, 41.2% developed generalization during a median follow-up period of 5 years.</p><p><b>Conclusion:</b> This study revealed significant differences among MG subtypes in terms of clinical features, autoantibody profiles, and treatment requirements. The MGFA and MGFA-PIS classifications offer useful tools for individualized treatment planning. The findings provide valuable insights into the potential role of early immunosuppressive therapy in reducing the risk of generalization in patients with OMG.</p>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2025 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/6259666","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144206607","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"L1CAM and p65 as Predictive Markers of ZFTA Fusion in Ependymomas","authors":"Cansu Turker Saricoban,&nbsp;Kadriye Ebru Akar,&nbsp;Ayse Mine Onenerk,&nbsp;Suheyla Uyar Bozkurt,&nbsp;Sebnem Batur,&nbsp;Nil Comunoglu,&nbsp;Buge Oz","doi":"10.1155/ane/1281170","DOIUrl":"https://doi.org/10.1155/ane/1281170","url":null,"abstract":"<p><b>Purpose:</b> In the 2021 World Health Organization (WHO) classification, ependymomas were classified according to their anatomical localization and molecular features. The “RELA fusion-positive ependymoma” group, which was the first defined molecular subtype in the previous (2016) classification, was included as “ZFTA fusion-positive ependymoma” in the final classification. We aimed to determine ZFTA fusion-positivity in supratentorial (ST) and posterior fossa (PF) ependymomas and to investigate the correlation with both L1CAM and p65 immunoreactivity.</p><p><b>Methods:</b> The study included 17 ST and 9 PF cases with Grades 1, 2, and 3 ependymomas. The presence of the ZFTA fusion was evaluated using the fluorescence in situ hybridization (FISH) technique. L1CAM and p65 antibodies were applied for immunohistochemical analysis. The immunoreactivity for L1CAM and p65 was correlated with ZFTA fusion as assessed by FISH. Prognostic significance of the same was evaluated using the Kaplan–Meier survival analysis.</p><p><b>Results:</b> ZFTA fusion-positivity was detected in 7 of 12 (58%) ST-localized Grade 3 ependymoma cases; however, it was not observed in PF-localized cases or in ST-localized Grade 1 subependymoma (SE) and Grade 2 ependymoma cases. Six of the seven ZFTA fusion-positive cases exhibited clear cell morphology. All ZFTA fusion-positive cases showed L1CAM immunohistochemical positivity, and six of them also demonstrated nuclear p65 positivity. Moreover, we identified a new FISH pattern, which we termed the “short break-apart.”</p><p><b>Conclusion:</b> Together, these data indicate a strong correlation between FISH and immunohistochemistry results. However, a more reliable assessment on this matter could be accomplished through a multicentric study involving a larger number of cases.</p>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2025 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/1281170","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144206572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cortical and Network Reorganization in Glioma-Related Epilepsy: Insights From Structural and Machine Learning Analyses","authors":"Xibiao Yang,&nbsp;Jingyuan Zhou,&nbsp;Simin Zhang,&nbsp;Xinke Li,&nbsp;Huaiqiang Sun,&nbsp;Qiang Yue","doi":"10.1155/ane/8965514","DOIUrl":"https://doi.org/10.1155/ane/8965514","url":null,"abstract":"<p><b>Background:</b> Epilepsy is a common symptom in patients with diffuse lower-grade glioma (DLGG). However, the specific role of cortical alterations in glioma-related epilepsy (GRE) remains unclear. This study is aimed at investigating the reorganization of cortical architecture and network changes associated with GRE.</p><p><b>Materials and Methods:</b> High-resolution T1-weighted and T2-weighted images were acquired from patients with DLGG (GRE = 68, non-GRE = 79) and 94 healthy controls (HCs). Cortical thickness and myelin content were calculated using the Human Connectome Project pipeline. Characteristics of structural covariance networks were computed using graph theory and network-based statistic. Cortical thickness, myelin content, and network characteristics were compared among three groups. A GRE individual prediction model was constructed using an automated machine learning approach.</p><p><b>Results:</b> Compared with HCs, both GRE and non-GRE groups exhibited cortical thinning in the tumor ipsilateral hemisphere, whereas there was cortical thickening in the contralateral hemisphere. Regarding the connectome characteristics, both GRE and non-GRE groups showed decreased nodal efficiency and connections in multiple regions. When comparing GRE with non-GRE, the GRE group exhibited more pronounced cortical thickening and demyelination in the contralateral orbitofrontal gyrus and superior frontal gyrus, with further decreased connections in the sensorimotor network, default mode network, and salience network. Finally, an XGBoost model based on cortical features enabled classification of GRE individuals with an accuracy of 0.80 and an AUC of 0.87.</p><p><b>Conclusion:</b> These findings deepen our understanding of the comprehensive cortical alterations in patients with DLGG and simultaneously provide novel insights into the potential pathophysiological mechanisms underlying GRE.</p>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2025 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/8965514","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144197195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Factors Influencing Cerebral Small Vessel Disease and Their Link to Recovery Outcomes Following Ischemic Stroke: A Two-Sample Mendelian Randomization Study","authors":"Zeyu Jiang,&nbsp;Shuhan Pan,&nbsp;Kun Zhao,&nbsp;Jian Sun","doi":"10.1155/ane/9937956","DOIUrl":"https://doi.org/10.1155/ane/9937956","url":null,"abstract":"<p><b>Objective:</b> The association between cerebral small vessel disease (CSVD) and postischemic stroke outcomes has been reported in observational studies. This study is aimed at clarifying the causal relationship between genetic predispositions to CSVD phenotypes and functional recovery after ischemic stroke using Mendelian randomization (MR).</p><p><b>Methods:</b> We employed instrumental variables derived from genome-wide association studies (GWAS) of individuals of European ancestry to represent magnetic resonance imaging (MRI)-detected CSVD phenotypes, including white matter hyperintensities, cerebral microbleeds, and perivascular spaces. Data on functional outcomes after ischemic stroke were obtained from the Genetics of Ischemic Stroke Functional Outcome (GISCOME) network. The primary analysis, conducted as a two-sample MR study, utilized the inverse-variance weighted approach, which was further supplemented by additional MR techniques in sensitivity analyses to validate the robustness of our findings. The Steiger directionality test was applied to evaluate the direction of the causal relationship.</p><p><b>Results:</b> In the primary analysis, no significant causal associations were found between genetic markers for CSVD phenotypes and poor functional outcomes (modified Rankin Scale ≥ 3) following ischemic stroke. The odds ratios (95% confidence intervals) for the different phenotypes were as follows: 0.90 (0.49–1.64) for white matter hyperintensity volume, 1.12 (0.85–1.49) for cerebral microbleeds, 3.42 (0.79–14.85) for white matter perivascular spaces, 0.02 (0.01–6.08) for basal ganglia perivascular spaces, and 1.02 (0.01–249.21) for hippocampal perivascular spaces. Sensitivity analyses supported the reliability of these results, showing no evidence of statistical heterogeneity or directional pleiotropy. Furthermore, the Steiger directionality test confirmed the accuracy of the inferred causal directions between CSVD phenotypes and functional outcomes.</p><p><b>Conclusion:</b> This MR study does not support a causal effect of genetic liability to CSVD phenotypes on functional outcomes after ischemic stroke. These findings suggest that current genetic evidence does not support a direct cause effect of CSVD phenotypes on recovery after ischemic stroke.</p>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2025 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/9937956","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144148380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Relationship of CONUT Score and Blood Urea Nitrogen/Albumin Ratio With Survival and Neurological Outcome in Patients With Acute Ischemic Stroke Followed in Neurology Intensive Care","authors":"Eren Mingsar,&nbsp;Zeynep Tanrıverdi,&nbsp;Mensure Çakırgöz,&nbsp;Dilan Düztaş,&nbsp;Hatice Sevil","doi":"10.1155/ane/8005012","DOIUrl":"https://doi.org/10.1155/ane/8005012","url":null,"abstract":"<p><b>Background:</b> Malnutrition is a frequent but underrecognized factor influencing prognosis in acute ischemic stroke (AIS) patients, particularly in intensive care settings. This study is aimed at evaluating the prognostic value of the controlling nutritional status (CONUT) score and the blood urea nitrogen/albumin (BUN/ALB) ratio on neurological outcomes and in-hospital mortality.</p><p><b>Methods:</b> This retrospective cohort study included 208 AIS patients admitted to a neurology intensive care unit between 2020 and 2022. Nutritional status was assessed within 24–48 h using the CONUT score, calculated from serum albumin, total lymphocyte count, and cholesterol. The BUN/ALB ratio was used as an additional marker. Neurological outcomes were evaluated on day 60 using the modified Rankin Scale (mRS). Statistical analyses included univariate and multivariate logistic regression, Cox regression, ROC curve analysis, and Kaplan–Meier survival analysis.</p><p><b>Results:</b> Higher CONUT scores and BUN/ALB ratios were significantly associated with poor neurological outcomes and increased in-hospital mortality. In multivariate analysis, both markers remained independent predictors of poor prognosis (CONUT OR = 3.8, <i>p</i> = 0.013; BUN/ALB OR = 7.4, <i>p</i> = 0.014). ROC analysis showed strong predictive value, especially for the CONUT score (AUC = 0.898 for progression; AUC = 0.860 for mortality).</p><p><b>Conclusion:</b> Early assessment of nutritional status using CONUT and BUN/ALB ratio may help identify AIS patients at higher risk of poor outcomes. These cost-effective and easily obtainable markers can support clinical decision-making and improve prognostic accuracy in intensive care management.</p>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2025 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/8005012","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144135813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}