Neurology and Therapy最新文献

{"title":"Assessing Efgartigimod (VYVGART™) Social Media Posts in Generalized Myasthenia Gravis to Understand Patient, Caregiver, and Health Care Professional Sentiments.","authors":"Tom Hughes, Albert Whangbo, Swati Shukla, Aditya Batra, Kaushik Bhattacharya, Anshul Sharma, Shreyas Jarmale","doi":"10.1007/s40120-026-01000-3","DOIUrl":"10.1007/s40120-026-01000-3","url":null,"abstract":"<p><strong>Introduction: </strong>Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disorder characterized by fluctuating muscle weakness (ocular, bulbar, limb, and respiratory). Efgartigimod (VYVGART), a first-in-class neonatal Fc receptor antagonist, was approved for treatment of generalized MG (gMG). This study aimed to explore real-world sentiments, wherein in sentiments refer to real-world perceptions expressed by patients, caregivers, and healthcare professionals (HCPs) on VYVGART and VYVGART Hytrulo, through structured social media analysis.</p><p><strong>Methods: </strong>This social media listening study was designed to collect posts mentioning VYVGART and VYVGART Hytrulo for gMG using predefined keywords from social media platforms across the globe. Organic English-language posts from several platforms, such as Reddit, X (formerly Twitter), Facebook, Forums, Review, and Tumblr etc., were analyzed for the timeframe August 1, 2021 to September 30, 2024. Posts were categorized into themes, namely \"brand awareness,\" \"treatment access,\" \"treatment experience,\" and \"treatment support.\"</p><p><strong>Results: </strong>A total of 1046 posts (USA 9%, Europe 6%, Unknown 85%) contained relevant information; 1015 posts were related to VYVGART and 55 posts were related to VYVGART Hytrulo. Most posts focused on treatment experience (593 posts) and brand awareness (402 posts). Overall sentiments towards VYVGART and VYVGART Hytrulo were positive in 49%, 30%, and 20% of patient, caregiver, and HCP posts, respectively. Patient posts expressed optimism about initiating treatment. There were fewer caregiver and HCP discussions and these were predominantly neutral.</p><p><strong>Conclusion: </strong>These findings suggest positive real-world perceptions of VYVGART and VYVGART Hytrulo among patients in improving symptoms and health-related quality of life.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"2643-2657"},"PeriodicalIF":4.7,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13615236/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148448491","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":"Smartphone-Based Multimodal Digital Biomarker Integration for Parkinson's Disease Screening and Diagnostic Support.","authors":"Kyungsung Lee, Han-Joon Kim, Jung Hwan Shin, Seungmin Lee, Su Hyeon Ha, Chanhee Jeong, Kyung Ah Woo, Dasom Lee, Myungjun Lee, Joonsang Jo, ZunHyan Rieu, Yoohun Noh","doi":"10.1007/s40120-026-01023-w","DOIUrl":"10.1007/s40120-026-01023-w","url":null,"abstract":"<p><strong>Introduction: </strong>Timely identification of Parkinson's disease (PD) is often delayed because of clinical heterogeneity and limited awareness of early symptoms. Digital biomarkers obtained via smartphones offer scalable screening potential. However, unimodal assessments may lack sufficient sensitivity or specificity given the multidimensional nature of PD. The aim of this study was to develop and validate a smartphone-based, multimodal digital biomarker framework for PD screening and diagnostic support.</p><p><strong>Methods: </strong>The study progressed through two phases: an initial version [n = 368; 233 PD, 135 healthy controls (HC)] was used for data-driven task refinement, and a final version (n = 296; 204 PD, 92 HC) containing optimized motor (Touch, Swipe, Balloon, Spiral, Wave), visual, and speech tasks and a refined questionnaire task was evaluated. Feature selection and speech subtask selection were performed exclusively within the training set using stratified cross-validation. Random Forest and XGBoost classifiers were trained using (1) single-task features, (2) all-task multimodal features, and (3) selected task subsets. The primary outcome was area under the receiver operating characteristic curve (AUROC) on the independent test set.</p><p><strong>Results: </strong>In the final version, single-task models demonstrated heterogeneous performance (Random Forest AUROC range 0.5689-0.8397), with the questionnaire (0.8397) and Touch task (0.7789) performing best individually. The all-task multimodal model achieved AUROC 0.8620. A reduced multimodal subset combining Touch, Spiral, and questionnaire features yielded the highest discriminative performance (AUROC 0.9053). Additional feature- and task-level analyses showed significant multivariate group differences (Hotelling's T² p < 0.001) and stronger inter-feature association in PD compared with HC, providing interpretability.</p><p><strong>Conclusion: </strong>A smartphone-only multimodal digital biomarker framework achieved high discrimination between PD and controls. Multimodal integration outperformed unimodal approaches, supporting the potential utility of scalable, smartphone-based tools for PD screening and diagnostic support. External validation in broader populations is warranted.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"2467-2489"},"PeriodicalIF":4.7,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13615278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148875029","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":"Assessment of Transition Plan Implementation and Provider Engagement Among Adults Living with Spinal Muscular Atrophy (SMA): Findings from a Cross-Sectional Survey.","authors":"Lauren E Eisenman, Angie R Wise, Mary A Curry","doi":"10.1007/s40120-026-01012-z","DOIUrl":"10.1007/s40120-026-01012-z","url":null,"abstract":"<p><strong>Introduction: </strong>Advances in disease-modifying therapies have improved outcomes and survival in spinal muscular atrophy (SMA), resulting in a growing population of adolescents and young adults who must transition from pediatric to adult healthcare systems. Despite longstanding professional guidance supporting structured transition planning, limited data describe how these processes are implemented and experienced in SMA in the United States (U.S.). This study evaluated patient-reported experiences of transition planning and engagement with adult healthcare providers among young adults living with SMA.</p><p><strong>Methods: </strong>A cross-sectional survey was distributed by email invitation to U.S. adults aged 18-29 years with 5q-SMA listed in the Cure SMA membership database, and interested individuals participated voluntarily. Descriptive analyses summarized transition status, exposure to structured transition elements, coordination practices, and experiences with adult providers. Respondents who had initiated transition were categorized by self-reported transition experience as Excellent/Very good/Good (EVG) or Fair/Poor (FP).</p><p><strong>Results: </strong>Of 156 responses received (30.4% response rate), 137 met inclusion criteria, and 122 had initiated or completed transition. Among these, 59.0% reported fully transitioning to adult care. Exposure to structured preparation elements was limited overall but more commonly reported by EVG respondents compared with FP respondents, including readiness assessments (28.2% vs. 6.8%), discussions about transition planning (51.3% vs. 17.8%), and receipt of written transition plans (17.5% vs. 7.7%). FP respondents more commonly reported self-coordinating their transition (36.4% vs. 23.1%) and major challenges engaging with adult providers (26.3% vs. 4.6%) compared with EVG respondents. Nearly all respondents (98.0%) reported difficulty accessing adult clinicians with SMA-specific expertise.</p><p><strong>Conclusions: </strong>Transition experience among young adults with SMA was more closely associated with cumulative exposure to structured preparation elements than with a single transfer event. Broader implementation of provider-led transition practices may improve patient experience, strengthen engagement in adult SMA care, and support care coordination within adult systems where disease-specific expertise remains limited.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"2551-2566"},"PeriodicalIF":4.7,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13615196/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148795947","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":"Therapeutic Potential of Traditional Chinese Herbal Medicines in Intracerebral Haemorrhage: A Narrative Review.","authors":"Hongyan Guo, Xiaomeng Dong, Xiangjian Zhang, Cong Zhang","doi":"10.1007/s40120-026-01004-z","DOIUrl":"10.1007/s40120-026-01004-z","url":null,"abstract":"<p><p>Intracerebral haemorrhage (ICH) remains a devastating stroke subtype with limited therapeutic options, creating an urgent need for complementary strategies that target secondary brain injury and recovery. Traditional Chinese herbal medicines (TCHMs) have attracted interest because of their potential multitarget actions on neuroinflammation, oxidative stress, apoptosis, ferroptosis, blood-brain barrier dysfunction, haematoma resolution, gut microbiota dysbiosis and neurovascular repair. Relevant preclinical, clinical and translational studies were identified through a structured search of international and Chinese bibliographic databases. Preclinical studies suggest that selected TCHM-derived bioactive compounds and multicomponent formulae may modulate key pathological processes after ICH, although compound-level mechanisms should not be directly extrapolated to formula-level effects without further validation. Clinically, several small-scale randomized trials, observational studies and meta-analyses have reported potential benefits of selected TCHM preparations, including improved neurological scores, haematoma absorption, oedema reduction and functional recovery when used as adjuncts to conventional care. However, the clinical evidence remains heterogeneous. Larger and more rigorously designed multicentre trials, including CHAIN and CRRICH, have either failed to confirm clear functional benefit or raised safety concerns under specific conditions, particularly regarding ultra-early use of potent blood-activating formulations. Translation into mainstream ICH management is further hindered by variable study quality, insufficient risk-of-bias control, uncertainty regarding active material basis, potential synergistic or antagonistic interactions within multicomponent formulae and limited standardisation of herbal preparations. Future research should focus on formulation-specific, stage-specific and patient-stratified evaluation using rigorous randomized controlled trials, transparent pharmacological characterization, standardised quality control and careful safety monitoring. This review synthesises current evidence from bench to bedside and highlights a cautious pathway toward evidence-based integration of selected TCHMs into ICH management.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"2255-2299"},"PeriodicalIF":4.7,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13615210/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148762352","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":"Polypharmacy, Potential Drug-Drug Interactions and Medication Non-Adherence in Patients with Multiple Sclerosis: A Longitudinal Study.","authors":"Avinash M Suntah, Michael Hecker, Bassel Barhoum, Jonas E Langenberger, Julia Baldt, Barbara Streckenbach, Jörg Richter, Niklas Frahm, Felicita Heidler, Uwe K Zettl","doi":"10.1007/s40120-026-00987-z","DOIUrl":"10.1007/s40120-026-00987-z","url":null,"abstract":"<p><strong>Introduction: </strong>Multiple sclerosis (MS) is a chronic neuroinflammatory disease affecting approximately 2.9 million people worldwide. Disease-modifying therapies for MS effectively lower the risk of relapses and delay disability progression, but the increasing medication burden and ongoing adherence challenges complicate disease management. An improved understanding of predictors of medication-related risks is essential to optimize long-term safety, treatment effectiveness, and quality of life in patients with MS.</p><p><strong>Methods: </strong>In this longitudinal observational study, 206 adults with MS or clinically isolated syndrome were enrolled, of whom 175 completed the 5-year follow-up assessment. Sociodemographic, clinical, and comprehensive medication data were collected at baseline and follow-up through structured interviews and review of medical records. Polypharmacy was defined as the concurrent use of ≥ 5 medications. Potential drug-drug interactions (pDDIs) were systematically identified using the DrugBank database, and medication non-adherence was defined based on patient self-reported missed medication.</p><p><strong>Results: </strong>Over the 5-year follow-up period, the prevalence of polypharmacy increased from 53.1% to 62.3% (p = 0.024), and pDDI exposure rose from 67.4% to 81.1% (p < 0.001), mainly driven by the greater use of drugs for comorbid conditions and dietary supplements. In contrast, monthly medication non-adherence remained stable (25.7% to 27.3%, p = 0.855). Major interactions accounted for 7.1% of all identified pDDIs. Older age, disability pension status, higher disability levels, coexisting medical conditions, and lower educational attainment were associated with polypharmacy and the presence of pDDIs, whereas non-adherence was linked to prior non-adherent behavior and inpatient care at baseline.</p><p><strong>Conclusion: </strong>Over time, the prevalence of polypharmacy and pDDIs increased in patients with MS, whereas medication non-adherence emerged as a largely independent risk domain. Polypharmacy and the presence of pDDIs were mainly associated with aging- and disability-related factors, whereas medication non-adherence was more difficult to predict. Our findings emphasize the need for regular medication monitoring that considers both prescribed and non-prescribed drugs, alongside individualized adherence support to mitigate distinct medication-related risks in long-term MS care.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"2723-2745"},"PeriodicalIF":4.7,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13615291/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148376452","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":"Artificial Intelligence in Neuromuscular Diseases: Opportunities for a Data-Scarce Field.","authors":"Shang Ma, Sushan Luo, Huahua Zhong","doi":"10.1007/s40120-026-01017-8","DOIUrl":"10.1007/s40120-026-01017-8","url":null,"abstract":"<p><p>Neuromuscular diseases (NMDs) encompass over 800 distinct entities affecting approximately one in 1000 individuals worldwide, with progressive muscle weakness, atrophy, and motor impairment as primary clinical manifestations. The rarity of most NMDs creates fundamental challenges for artificial intelligence (AI) and machine learning (ML) applications that typically require large-scale datasets. In this narrative review we synthesize the literature published between 2018 and 2025 on AI applications across the NMD spectrum, organized by clinical application domain. We examine how AI has advanced diagnostic capabilities through genetic variant interpretation, muscle magnetic resonance imaging analysis, electromyography-based classification, and computational pathology. In disease monitoring and prognosis, wearable-derived digital biomarkers have achieved regulatory qualification (US Food and Drug Administration [FDA] and European Medicines Agency [EMA]) as clinical trial endpoints for Duchenne muscular dystrophy, while AI-driven survival models for amyotrophic lateral sclerosis (ALS) have been validated across 14 European centers. Proteomic and multi-omics analyses using ML have identified diagnostic panels for ALS. However, most reported models were developed and internally validated on single-center datasets, and few have undergone external or prospective validation or clinical implementation. Despite these achievements, research intensity varies dramatically across NMD subtypes, with ALS and Duchenne muscular dystrophy dominating while myotonic dystrophy, congenital myopathies, and metabolic myopathies remain virtually unexplored. Critical gaps persist in computational pathology, multi-center validation, and clinical translation. In this review, we discuss how federated learning, international collaborative networks (TREAT-NMD, Solve-RD, EURO-NMD), and foundation models can address these challenges, and propose directions for future AI-enhanced clinical studies in this data-scarce field.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"2199-2216"},"PeriodicalIF":4.7,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13615195/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148864867","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":"Wilson's Disease Coexisting with Narcolepsy Type 1: Evidence for a Multifactorial Cause of Excessive Daytime Sleepiness from a Case Report.","authors":"Zhenjing Xu, Yanxin Wang, Chunsheng Xu, Zhifeng Hou, Wenming Yang","doi":"10.1007/s40120-026-01011-0","DOIUrl":"10.1007/s40120-026-01011-0","url":null,"abstract":"<p><strong>Background: </strong>Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism that frequently involves the central nervous system and may be associated with secondary sleep disturbances. Excessive daytime sleepiness (EDS) in WD is typically attributed to metabolic or structural brain injury rather than primary sleep-wake dysregulation. Narcolepsy type 1 (NT1), caused by autoimmune loss of hypothalamic hypocretin neurons, is a distinct primary sleep disorder. The coexistence of WD and NT1 has not previously been reported.</p><p><strong>Case presentation: </strong>We describe a 23-year-old woman with a 15-year history of WD who developed long-standing EDS accompanied by emotionally triggered cataplexy, sleep paralysis, and hypnagogic hallucinations. Genetic analysis identified pathogenic ATP7B variants (p.R778L and p.R919G). Brain MRI revealed symmetric signal abnormalities involving the basal ganglia, midbrain nuclei, cerebellar dentate nuclei, and hypothalamus, suggesting chronic neurotoxicity. Comprehensive sleep evaluation supported a diagnosis clinically consistent with NT1, further corroborated by HLA-DQB1*06:02 positivity. Importantly, hepatic encephalopathy and other secondary causes of hypersomnolence were excluded.</p><p><strong>Conclusion: </strong>This case suggests the possibility that NT1 can coexist with WD as an independent primary sleep disorder rather than a secondary manifestation of metabolic or structural brain disease. The findings support a multifactorial neurobiological mechanism in which copper-related neurotoxicity and genetic susceptibility converge on hypothalamic injury. Clinicians should maintain a high index of suspicion for primary sleep-wake disorders when patients with WD present with cataplexy or other REM-related symptoms, as accurate differentiation has important implications for diagnosis, management, and prognosis. Infographic available for this article. INFOGRAPHIC.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"2833-2843"},"PeriodicalIF":4.7,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13615206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148851397","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":"Characteristics and Hospitalization Details of Patients with Advanced Parkinson's Disease Receiving Continuous Subcutaneous Infusion of Foslevodopa/Foscarbidopa: Real-World First-Year Descriptive Study from Japan.","authors":"Toru Baba, Toshiki Nozaki, Shunji Toya, Hideyuki Migita, Kairi Ri, Atsushi Takeda","doi":"10.1007/s40120-026-01016-9","DOIUrl":"10.1007/s40120-026-01016-9","url":null,"abstract":"<p><strong>Introduction: </strong>The real-world characteristics of patients with advanced Parkinson's disease (PD) who receive foslevodopa/foscarbidopa (LDp/CDp) continuous subcutaneous infusion therapy (CSCI) remain poorly understood. This study aimed to describe the characteristics and hospitalization details of patients with advanced PD hospitalized for LDp/CDp CSCI in Japan.</p><p><strong>Methods: </strong>This study was a retrospective descriptive analysis conducted using a hospital-based database provided by Medical Data Vision, Co. Ltd. Patients with advanced PD who underwent LDp/CDp CSCI during hospitalization between July 2023 and June 2024 were enrolled. The index date was defined as the date of the first LDp/CDp prescription. Baseline patient characteristics, levodopa-equivalent dose (LED), number of pills/transdermal patches, medication classes for concomitant PD medications, and non-motor symptom medications assessed within 4 weeks prior to and including the index date, along with hospitalization details, were collected.</p><p><strong>Results: </strong>We enrolled 96 patients with a mean age of 65.6 years [standard deviation (SD), 10.2], of whom 58 (60.4%) were female. The median Barthel Index was 90.0 [interquartile range (IQR): 44.2], and the hospitalization duration was 15.0 days (IQR: 9.0). Eighteen patients (18.8%) discontinued LDp/CDp CSCI during hospitalization. The mean LED of any PD medications prior to LDp/CDp CSCI initiation, the mean number of PD medication classes, and the daily pill/transdermal patch count for PD medications were 1,111.0 mg/day (SD 575.7), 3.9 (SD 1.3), and 10.6 (SD 5.0), respectively. Except for levodopa (L-Dopa), dopamine agonists (78.1%) were the most commonly used concomitant PD medications.</p><p><strong>Conclusions: </strong>In real-world clinical practice in Japan, patients with LDp/CDp CSCI tend to be younger and have preserved activities of daily living. Our results implied that patients are often managed with multiple concomitant PD medications rather than with L-Dopa dose titration prior to initiation. Further research is warranted to maximize the benefits of LDp/CDp CSCI and assess its real-world impact on pill burden.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"2807-2821"},"PeriodicalIF":4.7,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13615239/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148892279","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 Risk in Multiple Sclerosis: Susceptibility, Modifiers and Unresolved Questions.","authors":"Jingni He, Nicholas B Blackburn, Vilija G Jokubaitis","doi":"10.1007/s40120-026-01009-8","DOIUrl":"10.1007/s40120-026-01009-8","url":null,"abstract":"<p><p>Multiple sclerosis (MS) is a chronic, immune-mediated disorder of the central nervous system (CNS) characterised by inflammation, demyelination and neurodegeneration. The aetiology of MS is complex, arising from interactions among genetic susceptibility, environmental exposures and stochastic immune processes. Over the past 2 decades, large-scale genomic studies have fundamentally shaped our understanding of MS pathogenesis, establishing disease risk as highly polygenic and predominantly driven by immune regulatory mechanisms. Genome-wide association studies (GWAS) have identified 233 common susceptibility variants, including 201 outside the major histocompatibility complex (MHC), with the strongest effects localised to the MHC, particularly HLA-DRB1*15:01. These genetic associations implicate pathways involved in antigen presentation, T- and B-cell activation, cytokine signalling and innate immune responses. Family-based studies have identified putative rare susceptibility variants, but no single gene has been confirmed to cause MS. However, genetic risk alone is insufficient to cause disease, and gene-environment interactions, most notably with Epstein-Barr virus infection, vitamin D insufficiency, obesity, smoking and sex-specific hormonal factors, are critical determinants of disease manifestation. Here, we synthesise current evidence on the genetic architecture of MS, the biological mechanisms linking genetic risk to disease susceptibility and the ways in which genetic factors intersect with environmental exposures to shape clinical outcomes. We further review emerging data on the influence of genetic variation on disease course, prognosis and treatment response. Finally, we discuss unmet needs and future directions, including the role that family studies can play in further informing our understanding of MS pathology, the need for ancestry-diverse studies, multi-omics integration and the translation of genetic insights into clinical care.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"2301-2320"},"PeriodicalIF":4.7,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13615222/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148766124","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 Association Between Venous Sinus Opacification Time and Futile Recanalization in Patients with Large Vessel Occlusion Acute Ischemic Stroke.","authors":"Huan Tang, Fang Wang, Yanxing Zhang, Jianli Wang, Wuqiao Bao, Yiping Lou, Min Zheng, Xuan Fang, Zihao Li, Jing Guo, Hui Cheng, Zhicai Chen","doi":"10.1007/s40120-026-01001-2","DOIUrl":"10.1007/s40120-026-01001-2","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to determine whether venous sinus opacification time on final digital subtraction angiography (DSA), a proposed marker of microcirculatory perfusion, predicts futile recanalization after successful endovascular thrombectomy (EVT) in patients who experienced anterior circulation large vessel occlusion (LVO) stroke.</p><p><strong>Methods: </strong>We retrospectively enrolled consecutive patients with anterior circulation LVO who underwent EVT and achieved successful recanalization (modified Thrombolysis in Cerebral Infarction [mTICI] 2c-3). Venous sinus opacification time was defined as the interval from first contrast opacification of the internal carotid artery to first venous sinus opacification on the final angiographic run. Futile recanalization was defined as poor functional outcome at 3 months (modified Rankin Scale [mRS] > 3). Multivariable logistic regression, restricted cubic spline, receiver operating characteristic (ROC), and subgroup interaction analyses were performed. Incremental prognostic value was assessed by comparing models with and without venous sinus opacification time.</p><p><strong>Result: </strong>A total of 205 patients were included, and 102 (49.8%) had futile recanalization. Venous sinus opacification time was independently associated with futile recanalization (odds ratio per 1-s increase 2.148; 95% confidence interval 1.543-2.991; p < 0.001). Adding venous sinus opacification time improved discrimination (AUC 0.700 vs. 0.782; DeLong p = 0.003) and reduced the Brier score (0.22 to 0.19). The association was approximately linear (p for nonlinearity = 0.143). A cutoff of 5.7 s showed high specificity (0.893) and modest sensitivity (0.392). No significant interactions were observed across prespecified subgroups.</p><p><strong>Conclusion: </strong>Venous sinus opacification time on final DSA independently predicts futile recanalization after EVT and provides incremental prognostic value beyond established clinical predictors.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"2603-2616"},"PeriodicalIF":4.7,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13615249/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148592775","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}