Background: Multiple system atrophy (MSA) is a sporadic, adult-onset neurodegenerative disorder characterized by autonomic failure, Parkinsonism, and cerebellar ataxia. Early diagnosis remains a major unmet need because current clinical criteria often identify the disease only after considerable progression. The recently proposed Movement Disorder Society (MDS) prodromal MSA criteria provide a framework for earlier recognition; however, their specificity is limited. In particular, individuals who initially present isolated parkinsonism or cerebellar ataxia without overt autonomic dysfunction may be overlooked, although some of them eventually progress to MSA. To address this critical gap, this multinational, multicenter study aims to clarify the earliest detectable clinical and biological phases of MSA, identify predictors of disease conversion, and refine prodromal diagnostic criteria within a well-characterized East Asian cohort. Methods: This project will be conducted across multi-centers in Japan and South Korea in two phases. Phase 1 is a retrospective analysis of patients initially suspected but not diagnosed with MSA, who were later confirmed as probable or clinically established MSA, to delineate early clinical, imaging, and autonomic features. Phase 2 is a prospective longitudinal cohort enrolling patients aged 30–80 years classified as mono-system MSA (moMSA), possible prodromal MSA according to MDS criteria, or pure autonomic failure. Participants will undergo standardized clinical, neuroimaging, and biomarker assessments including serum and CSF every six months for up to 36 months to identify predictors of conversion to probable or clinically established MSA. Conslusion: This protocol represents the first multinational effort in East Asia to establish a longitudinal prodromal MSA cohort. By integrating clinical, neuroimaging (brain MRI), and biomarker data (α-synuclein strain and genetic analysis), the study aim to clarify the earliest detectable phase of MSA, refine prodromal diagnostic criteria, and provide a platform for future disease-modifying trials. Trial registration: Clinical research information service (CRIS) number: KCT0011830
Introduction: Stroke remains a leading cause of mortality and long-term disability worldwide, and early recognition is critical for effective management. Despite growing awareness, the extent to which knowledge is translated into appropriate clinical practice among medical trainees remains uncertain. This study aims to assess stroke-related knowledge, attitude, and intended practice (KAP) among Egyptian medical students and house officers, and to identify gaps between knowledge and clinical decision-making. Methods: A cross-sectional study was conducted from August 2025 to March 2026 utilizing a structured, self-administered questionnaire derived from previously validated instruments. Participants were recruited through convenience and snowball sampling using a Google Forms questionnaire disseminated via online platforms and university networks. The survey assessed knowledge of stroke risk factors and warning signs, attitudes toward stroke severity and outcomes, and intended responses to suspected stroke scenarios. Knowledge and attitude scores were calculated, and associations among variables were examined using multivariate regression models. Results: Among the 1,065 participants, awareness of stroke was notably high, with nearly all recognizing it as a medical emergency (99.4%) and the majority reporting prior awareness (96.9%). Although classic stroke symptoms were widely recognized, atypical presentations were less well identified. Positive attitudes were present in 68.6% of participants, and adequate knowledge of warning signs and risk factors was observed in 86.9% and 81.4%, respectively. Nevertheless, inappropriate intended practices remained prevalent in simulated scenarios, with 23.4% indicating they would administer aspirin and 32.6% opting for self-transport. Multivariate analysis showed that prior training significantly predicted knowledge, while demographic factors influenced attitudes. Importantly, the observed inverse association between knowledge and intended practice highlights a concerning disconnect, emphasizing the need for interventions that bridge this knowledge–action gap. Conclusion: Although participants generally demonstrated favorable stroke knowledge, this did not consistently translate into appropriate intended practice. These findings suggest that knowledge alone may not be sufficient to ensure appropriate emergency decision-making and support consideration of competency-based educational approaches. Future interventional studies are warranted to evaluate their effectiveness.
Introduction: Enrolling cohorts that are representative of affected populations remains a challenge in neurogenetic research. However, few studies describe reproducible recruitment approaches for achieving representative cohorts. We aimed to recruit a representative cohort of pediatric patients with epilepsy who had not previously received conclusive sequencing results for research genetic sequencing. Methods: Patients with epilepsy referred for research genetic sequencing within a single healthcare system (2021–2023) were enrolled. Recruitment and engagement strategies were guided by the National Institute on Minority Health and Health Disparities Research Framework and addressed provider-reported barriers to research participation (e.g., language proficiency, transportation, healthcare access). We directly evaluated differential enrollment across relevant demographic and socioeconomic characteristics. We compared the enrolled cohort with the institutional child neurology epilepsy population. We also compared the enrolled cohort with North Carolina’s statewide population estimates to aid in the interpretation of findings. Results: Of 156 eligible patients, 95 (61%) enrolled. We found no statistically significant differences in measured characteristics between enrolled and non-enrolled eligible patients. The study cohort did not differ from the institutional population with respect to insurance status (p=.781), preferred language (p=.865), race (p=.548), or rurality (p=.689). Compared with statewide population estimates, there were no significant differences in preferred language (p=.362), race (p=.173), ethnicity (p=.907), or rurality (p=.212), although the cohort included a higher proportion of publicly insured participants and fewer uninsured participants (2% vs. 10.4%; p<.001). Hispanic/Latino representation was lower than the institutional population (10.5% vs. 19.0%; p=.041) but comparable to the statewide population (10.9%; p=.907). Over half of enrolled participants (54%) resided in counties with high economic distress. Among individuals who declined participation, travel or distance was the most frequently reported barrier (13/45, 29%). Conclusion: We used a framework-guided, provider-engaged recruitment approach to enroll a cohort of pediatric epilepsy patients prioritized for genetic sequencing whose sociodemographic characteristics appear to reflect the institutional and statewide populations across most measured domains. Measured characteristics were not found to be associated with study enrollment. Findings provide supportive evidence for implementing and evaluating similar recruitment approaches that may improve representativeness and reduce selection bias in neurogenetic and neurological research.
Background: Multiple sclerosis (MS) is a leading cause of nontraumatic neurological disability in young and middle-aged adults, with the Nordic region exhibiting among the highest burdens globally. However, systematic comparisons of MS burden across all five Nordic countries using standardized methodologies remain scarce. Methods: Using data from the Global Burden of Disease Study 2023, we analyzed MS burden in Denmark, Finland, Iceland, Norway, and Sweden from 1990 to 2023. Core indicators included incidence, prevalence, deaths, and disability-adjusted life years. We calculated estimated annual percentage changes (EAPCs), performed joinpoint regression to identify trend inflection points, conducted decomposition analysis to quantify drivers of burden changes, and employed Bayesian age-period-cohort models to project burden to 2050. Results: From 1990 to 2023, MS burden in the Nordic region increased steadily. In 2023, age-standardized prevalence was 130.52 per 100,000 population (50,107 cases), with an EAPC of 0.9335. Incidence rose to 4.95 per 100,000 (EAPC = 0.7845), while ASDR increased modestly (EAPC = 0.2550). Finland showed the fastest growth in incidence and prevalence, whereas Sweden and Iceland exhibited stabilization after 2012 and 2014, respectively. Decomposition analysis revealed that population growth and epidemiological changes were the primary drivers of increased burden, contributing 38.39–71.08% and 23.85–71.62% to prevalence growth, respectively. Projections to 2050 indicate that prevalence will increase by 19.5%–156.01 per 100,000 (67,846 cases), with a narrowing but persistent female predominance. Conclusion: The rising MS burden in the Nordic region is driven primarily by population growth and epidemiological changes. Universal healthcare has enabled early access to disease-modifying therapies, sustaining low ASDR in most countries. However, aging populations and prolonged survival present emerging challenges, underscoring the need for tailored national strategies and cross-Nordic collaboration.
Background: Idiopathic epilepsy (IE) remains a leading cause of neurological disability in the pediatric and adolescent population. While global mortality has declined, the evolving structural distribution of the disease burden and the potential impact of external shocks like the COVID-19 pandemic remain poorly quantified. We aimed to assess the global, regional, and national burden of IE among individuals aged 0–19 years from 1990 to 2021 and project trajectories through 2050. Methods: Using data from the Global Burden of Disease (GBD) Study 2021, we analyzed incidence, prevalence, deaths, and disability-adjusted life years (DALYs) for IE across 204 countries and territories. Temporal trends were evaluated using Joinpoint regression to estimate Average Annual Percent Changes (AAPC). We employed bivariate spatial analysis to intersect IE burden with COVID-19 intensity, and quantified health inequalities using the Slope Index of Inequality (SII) and Concentration Index. Future projections were generated via Bayesian Age-Period-Cohort (BAPC) models. Results: In 2021, the global age-standardized prevalence of IE reached 321.41 per 100,000, representing an 8.03% increase since 1990 (AAPC = 0.25%; 95% CI: 0.07%–0.43%). While age-standardized death rates decreased by 21.67% and DALY rates fell by 15.57%, global incidence rose slightly. A shift in the demographic distribution of the disease burden was observed: the primary burden migrated from the <5 age group in 1990 to the 15–19 age group in 2021, likely driven by declining early-childhood mortality. Bivariate spatial analysis identified 29 countries exhibiting geographic overlap between high baseline IE endemicity and intense COVID-19 impact. Inequality indices (SII and Concentration Index) confirmed a progressive consolidation of health loss within low socio-demographic index (SDI) regions. By 2050, despite projected declines in rates, absolute DALY counts are expected to remain high in low-resource settings due to demographic momentum. Conclusions: The global IE landscape among the 0–19 population has transitioned into a “post-mortality” phase, characterized by improved survival but expanding chronic disability, particularly among late adolescents (15–19 years). The disproportionate burden in low-SDI regions and the systemic vulnerabilities highlighted during the COVID-19 pandemic necessitate a paradigm shift from acute intervention to longitudinal, age-specific care and the urgent closure of the global “treatment gap.”
