Multiple Sclerosis Journal
Top medRxiv preprints most likely to be published in this journal, ranked by match strength.
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Background / ObjectivesWe investigated whether the interthalamic adhesion (IA), a midline structure connecting the thalami, is altered in MS and associated with thalamic damages and cognition. MethodsWe prospectively included 32 clinically isolated syndrome/early MS, 31 RRMS, 31 PPMS patients, and 103 matched controls. All underwent anatomical 3T MRI and completed a comprehensive cognitive battery. IA presence, subtype, and volume were assessed by two blinded readers. Thalamic nuclei and other ...
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IntroductionThe 2024 McDonald criteria incorporate the central vein sign (CVS) and paramagnetic rim lesions (PRL) as supportive imaging biomarkers for MS diagnosis. While susceptibility-weighted-imaging (SWI) and T2*-weighted echo-planar-imaging (EPI) are generally used to assess CVS/PRL, their relative performance remains unclear. This study compared high-resolution isotropic-T2*-EPI with non-isotropic SWI for CVS/PRL detection. Materials and MethodsIn this multi-centre study, 21 patients with...
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Clinical progression is strongly linked to grey matter atrophy in multiple sclerosis (MS), detectable early on MRI and progressing non-randomly across the brain. However, the mechanisms driving its spatio-temporal progression and individual variability remain unclear. Using MRIs from 2,187 participants, alongside normative data, we systematically investigated network-based mechanisms underlying MS-related atrophy. Regional atrophy colocalised with functional cortical hubs, supporting the nodal s...
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ObjectiveTo replicate and extend recent findings suggesting that higher serum alpha-linolenic acid (ALA) levels are associated with reduced disease activity and progression in multiple sclerosis (MS). MethodsWe reanalysed clinical trial data from 85 people with MS, who had serum ALA, magnetic resonance imaging (MRI), and clinical (EDSS, PASAT) assessments collected for two years, with additional follow-up at 12-years. Linear and mixed models were used to assess the relationship between ALA and ...
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Managing chronic diseases with unpredictable care demand creates significant operational challenges for healthcare systems. Mapping long-term care trajectories is crucial for improving resource allocation, anticipating service needs, and designing efficient care pathways. We used a data-driven approach to map six-year care trajectories for 962 newly diagnosed multiple sclerosis patients, identify utilization clusters, and determine predictors of high utilization. We analyzed Event logs of remote...
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Multiple sclerosis (MS) is a chronic neurodegenerative disease characterised by progressive neurological disability and heterogeneous symptom trajectories. Current clinical monitoring methods, including magnetic resonance imaging (MRI) and episodic neurological assessments, provide limited insight into subtle disease progression and functional changes. Digital health technologies integrating multimodal biosignals and behavioural assessments may enable continuous monitoring and personalised rehab...
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Artificial intelligence (AI) is increasingly being integrated into healthcare, particularly in data-intensive chronic diseases that rely on longitudinal monitoring and shared decision-making. Multiple sclerosis is a prototypical example of such care, but real-world benefit will depend on whether people accept AI support in different clinical roles. We conducted a cross-sectional, web-based survey among 241 people with MS (pwMS) to assess comfort with AI across eight clinical domains and to ident...
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BackgroundThe prodromal phase of multiple sclerosis (MS) is increasingly recognized, but most studies have focused on isolated symptoms or static comorbidity counts, leaving the evolving structure of pre-onset disease burden underexplored. ObjectiveTo characterize dynamic disease trajectories preceding MS onset through longitudinal network modeling. MethodsHealth data from 10,273 MS patients and 47,167 matched controls in Sweden were analyzed. Disease co-occurrence networks were constructed fo...
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BackgroundChronic autoimmune diseases such as Chronic Inflammatory Demyelinating Polyneuropathy (CIDP), Multifocal Motor Neuropathy (MMN), and Thyroid Eye Disease (TED) impose a considerable burden on affected individuals. Patient-reported outcome measures (PROMs)--both disease-specific and generic--are widely used to assess functioning, quality of life, and treatment effects in these populations. However, most PROMs currently lack reference values derived from the general population, limiting t...
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BackgroundFatigue is prevalent and debilitating across neurological disorders yet remains under recognised in routine care. We characterised and compared fatigue across five long term neurological conditions using a common assessment, and developed a brief, history-based model to estimate fatigue severity. MethodsAdults with epilepsy, Huntingtons disease (HD), multiple sclerosis (MS), Parkinsons disease (PD), or motor neurone disease (MND) completed an online cross-sectional survey (n=652). The...
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IntroductionThe balance between excitatory and inhibitory (E/I) neural processes is a fundamental principle of brain function, and its disruption has been implicated in the pathophysiology of multiple sclerosis (MS). In vivo assessment of E/I balance has traditionally relied on electrophysiological measures, and despite the abundance of fMRI data on MS, no fMRI-based technique has so far been presented to measure E/I balance in MS. MethodsRecently, a novel MRI-based method has been introduced t...
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BackgroundDisorders affecting the spinal cord (myelopathies) can cause severe disability. Despite diagnostic advances, approximately 12-18% of myelopathy cases continue to elude an etiological diagnosis, hampering effective treatment. MethodsThis retrospective, multicenter, tertiary care cohort study conducted from 2014 to 2025 evaluated archived biofluids from patients with IM, known autoimmune myelitis, or other neurological diseases (ONDs). Proteome-wide phage display was used to discover no...
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ImportanceElevated circulating low-density lipoprotein (LDL) cholesterol is associated with an increased risk of amyotrophic lateral sclerosis (ALS) onset. Previous studies have explored the relationship between statin use and ALS onset. However, findings have been inconsistent, potentially due to methodological limitations, such as confounding by indication, and failure to account for baseline differences in LDL cholesterol levels. ObjectiveTo compare the risk of ALS onset between new users of...
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An overlap syndrome of myositis and/or myocarditis associated with myasthenia gravis (MG) has emerged as a life-threatening immune-related adverse event (irAE) in cancer patients treated with immune checkpoint inhibitors (ICIs). This syndrome closely resembles a rare form of idiopathic inflammatory myopathy (IIM) seen in a subset of MG patients. In this systematic review, we searched PubMed for reports of concurrent MG and IIM as well as ICI-related overlap syndromes. By integrating clinical, se...
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ObjectivesFunctional neurological symptoms which do not meet clinical definitions of functional neurological disorder (FND) are common in clinical practice. Understanding the distinction between these benign functional symptoms and FND is crucial in defining FND as an entity for study, and as a clinical syndrome. We aimed to measure the frequency of functional symptoms in people who do not have FND. MethodsA survey was administered to 95 clinicians who attended an international conference on F...
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PurposeMyasthenia gravis (MG) is a rare neuromuscular disease. In-person appointments in specialized centers are not readily available, especially on short notice. The purpose of this study was to analyze patient-specialist communication through a telemedical platform. MethodsIn a randomized controlled study 45 MG patients were observed over three months. The intervention group (N=30) was monitored via a mobile application ( app) that enabled chat function and assessed MG-specific outcome measu...
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In LGMDR1-Calpain-3 related, as in all muscular dystrophies, clinical trial monitoring remains a challenge due to the lack of reliable biomarkers. This study assessed IL-32 concentrations in both serum and urine, uncovering a marked increase in patients compared to healthy controls. Serum IL-32 levels were especially elevated in young adults, suggesting a possible link to the early and more active phases of disease onset. Meanwhile, urinary IL-32 levels showed consistent elevation across all age...
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BackgroundTraumatic spinal cord injury (SCI) is a major cause of long-term neurological disability, with limited pharmacological therapies targeting secondary inflammatory and neurodegenerative injury mechanisms. Minocycline, a tetracycline derivative with anti-inflammatory and neuroprotective properties, has been investigated in both experimental and clinical settings; however, its therapeutic efficacy in acute traumatic SCI remains uncertain. MethodsA systematic review was conducted in accord...
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Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative condition characterized by the presence of intranuclear inclusions in neuronal and visceral cells. Patients with NIID can present respiratory symptoms; however, data on pulmonary functions in NIID are lacking. This study investigated the respiratory conditions in NIID patients diagnosed with histopathological and genetic studies. We conducted two spirometries before and after administrating the bronchodilator in NIID patients ...
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BackgroundMRI plays an essential role in diagnosing and monitoring neurological diseases. Conventional protocols rely on multiple sequences to obtain complementary contrasts, increasing scan time, cost, and tolerability. Generating multiple contrasts from a single acquisition may streamline workflow while maintaining clinical utility. PurposeTrain attention-based convolutional neural networks (ACNNs) to generate clinical-quality FLAIR, MPRAGE, R2*, and derived contrasts from a single Gradient E...