Multiple sclerosis and related disorders最新文献

Background: Autoimmune glial fibrillary acidic protein astrocytopathy (GFAPA) is a recently recognized autoimmune disorder of the central nervous system. While many patients respond to conventional immunotherapies, a subset exhibits suboptimal responses, highlighting the need for alternative treatment strategies.

Objective: To report real-world clinical experience with efgartigimod in GFAPA patients, providing preliminary data on its safety and effectiveness.

Design: This retrospective case-control study was conducted at a single center in China and included patients with GFAPA who received efgartigimod, with a minimum follow-up of 8 weeks.

Methods: We analyzed data from 36 patients diagnosed with GFAPA between January 2021 and July 2024. Patients were categorized into two groups: those treated with efgartigimod (n = 16) and those who were not (control group, n = 20). Clinical outcomes were evaluated using the modified Rankin Scale, Clinical Assessment Scale in Autoimmune Encephalitis (CASE), Glasgow Coma Scale (GCS), and assessment of clinical symptoms. Additionally, we monitored treatment-emergent adverse events (TEAEs), changes in cerebrospinal fluid (CSF) parameters (total protein, leukocyte count, anti-GFAP antibody titers), and serum immunoglobulin G (IgG) levels.

Results: Compared to the control group, patients receiving efgartigimod demonstrated greater clinical improvement, as reflected by borderline significant reductions in CASE scores at discharge (p = 0.04). Improvements in GCS scores were also observed at both time points. The efgartigimod group showed significant decreases in CSF total protein, leukocyte count, anti-GFAP antibody titers, and serum IgG levels. The most common TEAEs were mild to moderate infections; no serious safety concerns were identified.

Conclusion: Efgartigimod appears to be safe and potentially effective in patients with GFAPA, and may be associated with improvements in clinical symptoms and neurological function. However, larger prospective, randomized controlled trials are warranted to confirm these findings and establish its role in the treatment algorithm.

Background: Neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis (MS) are immune-mediated demyelinating disorders with overlapping clinical features. Comorbidities may influence diagnostic accuracy, therapeutic decisions, and long-term prognosis. Comparative data on comorbidity profiles in NMOSD versus MS are scarce, particularly from Middle Eastern and Mediterranean cohorts.

Objective: To compare the prevalence and distribution of systemic, metabolic, cardiovascular, and neuropsychiatric comorbidities in patients with NMOSD and MS.

Methods: We retrospectively analysed 144 patients with NMOSD and 2892 with MS followed at a neuroimmunology clinic between 2015 and 2023. Demographic, clinical, and comorbidity data were systematically extracted from electronic records.

Results: Comorbidity profiles differed significantly between groups. NMOSD patients more frequently had systemic lupus erythematosus (3.5% vs 0.1%, p < 0.01), diabetes mellitus (12.5% vs 4.5%, p < 0.01), and dyslipidemia (7.6% vs 3.5%, p = 0.012). A trend toward higher prevalence of Behçet's disease was observed (1.4% vs 0.2%, p = 0.052). In contrast, depression/anxiety (20.1% vs 12.5%, p = 0.025), restless legs syndrome (5.6% vs 1.4%, p = 0.029) were significantly more common in MS.

Conclusion: NMOSD and MS differ substantially in their comorbidity signatures.

Background: Inconsistent results on dalfampridine in RRMS may reflect variability in patient characteristics.

Objective: This randomized, double-blind, placebo-controlled trial was preregistered at ClinicalTrials.gov (NCT05730738), aimed to investigate the effects of dalfampridine on gait, cognition, and fatigue in patients with mild to moderate symptoms.

Methods: Patients with RRMS who had an EDSS score of ≤5.5 and a 25-Foot Walk Test (25FWT) time of ≥ 4 seconds, and who reported fatigue and cognitive impairment, were randomized to receive either dalfampridine or placebo for 3 months. Patients were assessed by the 25FWT, Berg Balance Test, Hauser Ambulation Index, the Brief International Cognitive Assessment, Montreal Cognitive Assessment, Frontal Assessment Battery, and the Modified Fatigue Impact Scale.

Results: Among 100 participants allocated to the study, 89 completed the follow-up. Compared with the placebo group, the dalfampridine group showed significantly lower pyramidal system impairment and disability (p = 0.006) and better cognitive performance (p = 0.04), with comparable side-effect profiles at the 3-month follow-up. There was a significant reduction in fatigue at follow-up compared to baseline (p=0.006).

Conclusion: The current study demonstrated the positive effect of dalfampridine on cognitive impairment and fatigue in patients with mild to moderate symptoms. However, further RCTs are warranted to confirm its long-term benefits.

Background: Poor sleep is common in people with multiple sclerosis (PwMS). Previous systematic reviews have evaluated intervention effectiveness to improve sleep in PwMS using questionnaires, but no review has comprehensively examined whether sleep interventions improve activity monitor measured sleep outcomes in PwMS.

Methods: Adhering to the PRISMA guidelines, we searched PubMed, EMBASE, and PsycINFO databases to identify randomized controlled trials, quasi-experimental and cohort studies published from inception to October 2025. A random-effects model was used to estimate the pooled intervention effects of sleep interventions on objective sleep outcomes.

Results: Ten studies were included in the review for narrative synthesis, with five eligible for quantitative meta-analysis. Six sleep parameters were assessed via activity monitors: total sleep time, sleep efficiency, total time in bed, sleep onset latency, wake after sleep onset, and frequency of awakenings. Sleep interventions utilised included physical activity, mindfulness, cognitive behavioral therapy (CBT), melatonin, eszopiclone and transcranial direct current stimulation (tDCS). Only sleep efficiency improved following mindfulness interventions. The median length of actigraph wear time was 7 days (range 4 nights to 16 weeks). Study quality appraisal scores ranged from moderate to high, suggesting a low risk of bias.

Conclusion: Activity monitors have been used to assess sleep intervention effectiveness in PwMS in studies assessing physical activity, mindfulness and CBT. Objective improvements in sleep were reported following mindfulness and only using one measure (sleep efficiency). However, the small number of included studies limits definitive conclusions. Future trials should consider a wider range of outcome measures and longer time horizons.

Introduction: Neutropenia is a rare side effect of CD20-depleting therapy and information regarding its management is scarce. This study aims to evaluate the clinical features, management and prognosis of ocrelizumab-related neutropenia in MS patients.

Methods: Retrospective single-centre case series and systematic literature review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.

Results: 37 patients were included (2 from our centre, representing an incidence of 0.63% per patient-year in our cohort [N = 117]; and 35 from the systematic review). Mean age was 36.2 years (SD 8.24) and 67.6% were female. Median number of previous disease-modifying drugs was 1 (IQR 2). Neutropenia occurred in a median of two cycles (IQR 3) after the first ocrelizumab infusion and 72.5 days (IQR 75.5) after the last one. Most patients presented with late-onset neutropenia (88.9%) and had grade four neutropenia (88.9%). 73% were symptomatic and 63% required inpatient care. No deaths were reported. 89.2% of patients received treatment with granulocyte-colony stimulating factors (G-CSF), antimicrobials or both. All neutropenia events resolved in a median of 4.5 days (IQR 5). G-CSF decreased the recovery time (p < 0.001). Treatment was maintained in 72.4% (follow-up of 1-24 months). Recurrence occurred in the same ocrelizumab cycle (N = 4), in following cycles (N = 4) and after switching to ozanimod (N = 1). No clinical, demographic or treatment features influenced recurrence.

Conclusion: Neutropenia occurred early in treatment. Most patients presented with high-grade neutropenia but experienced a mild clinical course. Ocrelizumab resumption was possible. Recurrence may happen in the same or following cycles.

The multiple sclerosis community has made continuous improvements to historical diagnostic criteria by incorporating newer technology and recognising the need to diagnose MS at an early stage, when disease-modifying therapy may be more effective. Despite these improvements, we do not know how well these criteria perform in clinical practice. Therefore, a new approach may be needed going forward to incorporate lessons learned from other complex diseases to define the sensitivity and specificity of the criteria and to improve them. This is important to avoid misdiagnosis and overdiagnosis and, as a consequence, inappropriate treatment. We therefore propose a tiered process for developing and validating diagnostic criteria in the future. As part of this process, we suggest diagnostic criteria underpinned by a biological definition of MS, informed by deductive reasoning, and applying lessons learnt from other disease areas. In conclusion, we recommend that the MS community initiate a prospective international study to validate and compare MS diagnostic criteria. The ultimate aim is to facilitate the identification of individuals with early biological disease and to enhance overall diagnostic accuracy. It is important to develop a diagnostic framework for MS prevention that does not necessarily rely on clinical or radiological confirmation of MS, i.e., time to a first clinical or radiological event.

Background and purpose: Non-organ-specific autoantibodies-including antinuclear antibodies (ANA), extractable nuclear antigens (ENA), and antiphospholipid antibodies (APLA)-are reported in some patients with multiple sclerosis (MS). This study assessed the prevalence and predictors of ANA, ENA, and APLA among Omani people with MS (PwMS).

Methods: This retrospective cross-sectional study reviewed records of 215 Omani PwMS between 2017 and 2022. Demographics, clinical features, and ANA, ENA, and APLA profiles were analyzed.

Results: Women comprised 66.5 % of the total patients, and most patients had relapsing-remitting MS (82.3 %). ANA positivity was 34.4 % and was significantly associated with MS duration (p = 0.021). ENA positivity was present in 31.7 % patients, mainly anti-SSA (63.2 %). APLA was detected in 17 % and was associated with female sex, brainstem or cerebral presentations, and cardiovascular comorbidity. None of the autoantibodies showed meaningful associations with MS subtype, expanded disability status scale (EDSS) score, or relapse rate.

Conclusion: ANA and ENA are relatively common in Omani PwMS, whereas APLA is less frequent. However, autoantibody positivity showed limited clinical relevance, indicating the need for cautious interpretation and additional regional research to clarify the diagnostic implications of autoantibodies in MS.

Multiple sclerosis is a chronic disease with a great burden not only in healthcare costs but to a person's quality of life. The All of Us Research Program's large, diverse and broadly accessible data resource could be extremely useful to multiple sclerosis researchers, allowing them to consider individual differences in lifestyle, socioeconomic factors, environmental, genetic and other biological characteristics to advance precision prevention, diagnosis and treatment. The objective of this analysis was to demonstrate the richness of the All of Us data in prevalence, demographic and geographic distribution of participants reporting a history of multiple sclerosis either by electronic health record data, survey data or both. The prevalence of multiple sclerosis within the All of Us population was higher than most previous reports, overall and within demographic and geographic categories. Differences were also seen in prevalence by the type of data provided, with lowest prevalence in those who had both medical record and self-reported multiple sclerosis. These findings, along with the diversity of data types available in this cohort, may make it an ideal place for MS researchers to conduct studies, particularly etiologic and translational research. The ability to link participant reported survey data with electronic health record data, genetic and biospecimen data could allow for new studies that could not only improve our understanding of the disease, but present opportunities to develop personalized multiple sclerosis preventive interventions and treatments in the future.