Biomarkers of Multiple Sclerosis

Forecasting the progression of the disease in the early inflammatory stage of the most prevalent type of multiple sclerosis (MS), referred to as relapsing–remitting multiple sclerosis (RRMS), is essential for making prompt treatment modifications, aimed to reduce clinical relapses and disability. In total, 58 patients with RRMS, having an Expanded Disability Status Scale (EDSS) score less than 4, were included in this study. Baseline magnetic resonance imaging (MRI) was performed, and brain and spinal cord lesions were evaluated. The disability of the patients was evaluated using EDSS at baseline and follow-up; enzyme-linked immunosorbent assays (ELISAs) were also used to determine the level of blood-based inflammation markers in plasma at baseline. The main results demonstrated that the baseline level of LBP was correlated with an increase in EDSS in a short (8–10 months) follow-up period. Furthermore, the prognostic significance of LBP was only observed in patients who received disease-modifying treatment (DMT) before the study. Our results suggest that the baseline level of LBP may be among the predictors of disability progression in RRMS over short follow-up periods, particularly in those receiving treatment. It highlights the effect of endotoxins in the pathogenesis of RRMS.

Background and Objectives: Multiple sclerosis (MS) is a chronic inflammatory, autoimmune, and neurodegenerative disease of the central nervous system. The disease can manifest and progress with both physical and cognitive symptoms, affecting the patient’s daily activities. The aim of our study was to investigate the correlation between functional status, cognitive functions, and neurofilament light chain levels in plasma in MS patients. Materials and Methods: In a cross-sectional study, MS patients with a relapsing–remitting course (according to McDonald’s criteria, 2017) (n = 42) from Riga East University Hospital and a control group (n = 42) were included. In the MS group, the functional status was determined using the Expanded Disability Status Scale (EDSS), and neurofilament light chain levels in plasma (pNfL) were detected using single molecule array (Simoa) technology. The symbol digit modalities test (SDMT), brief visuospatial memory test—revised (BVMT-R), and the nine-hole peg test (9-HPT) were performed on the MS and control groups, dividing the groups by education level. Results: On the SDMT spreading speed, the MS group performed worse than the control group. The median score for the control group was 94.0, and for the MS group, it was 81.3. Slower performance on the SDMT also correlated with a higher EDSS in the MS group. Cognitive processing speed and memory were better in the control group and among individuals with higher education in both groups. For the BVMT-R, we found no difference between the two groups; both groups were able to learn the task equally well, but we found a weak correlation between age and learning in both groups, which could be related to the normal aging process. Execution reaction speed on the 9-HPT with the dominant hand was slower in the MS group (24.1 s) than in the control group (19.4 s). In the MS group, we observed a trend between SDMT performance and pNfL levels: higher pNfL levels were found in individuals who performed more slowly on the SDMT. Conclusions: Cognitive and fine motor dysfunction correlates with neurological impairment and plasma neurofilament light chain levels in MS patients.

Background and Objectives: Multiple sclerosis (MS) is a chronic autoimmune, inflammatory, and neurodegenerative central nervous system disease. Neurodegeneration plays a central role in long-term disease progression. Materials and Methods: This cross-sectional study examined the relationship between neurodegenerative biomarkers, namely plasma neurofilament light chain (pNfL) levels and MRI-derived brain volume measurements, and clinical outcomes in 49 patients with relapsing–remitting multiple sclerosis (RRMS). Plasma NfL levels were quantified using Simoa technology, while MRI data was analyzed via FreeSurfer to measure volumes of grey and white matter, specific brain structures, and ventricular sizes. Cognitive performance was assessed using the Symbol Digit Modalities Test (SDMT) and Brief Visuospatial Memory Test-Revised (BVMT-R). Disability was evaluated using the Expanded Disability Status Scale (EDSS). Results: The results indicated significant positive correlations between SDMT scores and volumes of grey matter, white matter, and various subcortical structures, suggesting that preserved brain volume is linked to better cognitive performance. Negative correlations were observed between SDMT scores and ventricular volumes, as well as between SDMT scores and EDSS scores, implying that cognitive decline corresponds with structural brain deterioration and increased disability. No significant associations were found between BVMT-R scores and imaging data or disability measures. Plasma NfL levels showed significant correlations with early disease relapses and enlargement of the third and fourth ventricles, but not with brain volume, cognitive tests, or EDSS scores. Conclusions: These findings indicate that MRI-based brain volumetrics, particularly grey and white matter measures, are stronger indicators of cognitive function and disability in RRMS than plasma NfL.

Anti-N-methyl-D-aspartate (anti-NMDA) receptor encephalitis is a rare subtype of autoimmune encephalitis, often presenting with early-onset, disease-specific neuropsychiatric symptoms. This case report describes a female patient with relapsing-remitting multiple sclerosis (RRMS) who developed anti-NMDA receptor encephalitis while receiving disease-modifying treatment. She exhibited neurocognitive symptoms and atypical magnetic resonance findings. Clinical and laboratory findings, including lumbar puncture, confirmed the presence of IgG antibodies against the GluN1 subunit of the NMDA receptor, establishing the diagnosis. First-line therapy with methylprednisolone and plasma exchange proved refractory, and immunoglobulin therapy yielded only a suboptimal response. Rituximab achieved the optimal therapeutic effect; however, therapy was followed by recurrent COVID-19 infection in this previously unvaccinated patient. This report highlights the complexities of diagnosis, differential considerations, therapeutic strategies and the detrimental impact of anti-NMDA receptor encephalitis and RRMS on the patient’s quality of life.

A previously healthy male in his late 40s presented with progressively worsening neurological symptoms—tetraparesis, visual disturbances, aphasia and dysphagia. Brain MRI revealed multiple large contrast-enhancing lesions with mass effect. After extensive investigation, a demyelinating central nervous system (CNS) disease was suspected; however, a differential diagnosis with primary CNS vasculitis was also considered. Despite treatment with high-dose corticosteroids, plasma exchange and immunoglobulins, the patient’s neurological condition continued to deteriorate. A brain biopsy confirmed an active demyelinating process. A diagnosis of aggressive multiple sclerosis was established. Immunotherapy with ocrelizumab resulted in clinical stabilisation. This case highlights the diagnostic challenges of atypical demyelinating presentations and the critical role of brain biopsy in guiding early treatment in fulminant cases.