Clinical Updates and Challenges of Multiple Sclerosis and Related Disorders

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Clinical Medicine, Cell, and Organism Physiology".

Deadline for manuscript submissions: 31 March 2025 | Viewed by 5976

Special Issue Editor


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Guest Editor
Department of Advanced Medical and Surgical Sciences, University of Campania Luigi Vanvitelli, 80131 Naples, Italy
Interests: multiple sclerosis; demyelinating disease of the central nervous system
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Special Issue Information

Dear Colleagues,

Multiple Sclerosis (MS) and related disorders are defined by their debated pathophysiology, diverse clinical presentations and different disease courses. Recent advancements in understanding the pathophysiology of MS, emerging diagnostic techniques, novel imaging modalities, and cutting-edge biomarkers hold the potential to facilitate early and accurate diagnosis, to comprehend the course of disease, evaluate the impact of comorbidities on disease progression, and assess the role of prognostic factors. Additionally, the focus on patient-reported outcomes, the evolving landscape of disease-modifying therapies, rehabilitation strategies, and multidisciplinary approaches should enhance the management of clinical aspects and ensure a good quality of life for people with MS, moving toward personalized medicine in the management of MS.

This Special Issue aims to comprehensively explore the current landscape of MS and related disorders by providing a source for in-depth clinical updates and discussions on the challenges associated with diagnosis, management, treatment of disease, and the psychosocial dimensions of living with MS. By spotlighting these challenges, this Special Issue will foster an interdisciplinary dialogue to identify gaps in the knowledge and areas in need of further research.

Dr. Maddalena Sparaco
Guest Editor

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Keywords

  • multiple sclerosis
  • demyelinating disease of the central nervous
  • progression
  • patient reported outcomes
  • biomarkers
  • therapeutic approaches
  • monitoring strategies

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Published Papers (4 papers)

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Research

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15 pages, 387 KiB  
Article
Investigating the Potential Influence of TAS2R16 Genetic Variants and Protein Levels on Multiple Sclerosis Development
by Greta Gedvilaite, Enrika Pileckaite, Ignas Ramanauskas, Loresa Kriauciuniene, Renata Balnyte and Rasa Liutkeviciene
J. Pers. Med. 2024, 14(4), 402; https://doi.org/10.3390/jpm14040402 - 10 Apr 2024
Cited by 1 | Viewed by 1110
Abstract
The study aimed to investigate the association between the TAS2R16 gene (rs860170, rs978739, rs1357949), TAS2R16 serum levels, and multiple sclerosis (MS). A total of 265 healthy control subjects and 218 MS patients were included in the study. Single nucleotide polymorphisms (SNPs) were tested [...] Read more.
The study aimed to investigate the association between the TAS2R16 gene (rs860170, rs978739, rs1357949), TAS2R16 serum levels, and multiple sclerosis (MS). A total of 265 healthy control subjects and 218 MS patients were included in the study. Single nucleotide polymorphisms (SNPs) were tested by real-time polymerase chain reaction (RT-PCR). The serum concentration of TAS2R16 was measured using the ELISA method. Analyses revealed that the TAS2R16 rs860170 TT genotype was statistically significantly less frequent in the MS group than in the control group (p = 0.041), and the CC genotype was statistically significantly more frequent in the MS group than in the control group (p < 0.001). In the most robust (codominant) model, the CC genotype was found to increase the odds of MS by ~27-fold (p = 0.002), and each C allele increased the odds of MS by 1.8-fold (p < 0.001). Haplotype analysis of the rs860170, rs978739, and rs1357949 polymorphisms showed that the C-C-A haplotype was associated with a ~12-fold increased odds of MS occurrence (p = 0.02). Serum TAS2R16 levels were elevated in the MS group compared to control subjects (p = 0.014). Conclusions: The rs860170, rs978739, and rs1357949 polymorphisms demonstrated that the C-C-A haplotype and elevated TAS2R16 serum levels can promote the development of MS. These preliminary findings underscore the importance of specific genetic variants, such as rs860170, rs978739, and rs1357949, in MS risk. Additionally, elevated TAS2R16 serum levels in MS patients suggest a potential role in MS pathogenesis. These findings provide insights into the genetic and molecular mechanisms underlying MS and pave the way for personalized diagnostic and therapeutic strategies. Integrating genetic and serum biomarker data in MS research offers promising avenues for improving clinical outcomes and advancing precision medicine approaches in the future. Full article
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Review

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12 pages, 882 KiB  
Review
Posterior Tibial Nerve Stimulation for the Treatment of Detrusor Overactivity in Multiple Sclerosis Patients: A Narrative Review
by Vaia Sapouna, Athanasios Zikopoulos, Sofia Thanopoulou, Dimitrios Zachariou, Ioannis Giannakis, Aris Kaltsas, Bou Sopheap, Nikolaos Sofikitis and Athanasios Zachariou
J. Pers. Med. 2024, 14(4), 355; https://doi.org/10.3390/jpm14040355 - 28 Mar 2024
Cited by 1 | Viewed by 2649
Abstract
Bladder dysfunction, particularly neurogenic detrusor overactivity (DO), poses a substantial challenge in multiple sclerosis (MS) patients, detrimentally impacting their quality of life (QoL). Conventional therapies often fall short, necessitating alternative approaches like posterior tibial nerve stimulation (PTNS) for effective management. This narrative review [...] Read more.
Bladder dysfunction, particularly neurogenic detrusor overactivity (DO), poses a substantial challenge in multiple sclerosis (MS) patients, detrimentally impacting their quality of life (QoL). Conventional therapies often fall short, necessitating alternative approaches like posterior tibial nerve stimulation (PTNS) for effective management. This narrative review critically examines the application of PTNS in treating DO among MS patients, aiming to provide a comprehensive synthesis of its efficacy, underlying mechanisms, and clinical outcomes. By evaluating a spectrum of studies, including randomized controlled trials and long-term follow-up research, the review elucidates PTNS’s role in enhancing bladder control and ameliorating symptoms of urgency and incontinence, thereby improving patient well-being. Despite its potential, the review acknowledges the limited scope of existing research specific to MS-induced neurogenic DO and calls for further investigation to optimize PTNS protocols and understand its long-term benefits. Highlighting PTNS’s minimal invasiveness and favorable safety profile, the review advocates for its consideration as a viable third-line treatment option in MS-related bladder dysfunction management. Through this analysis, the review contributes to the broader narrative of seeking effective, patient-centered therapeutic strategies for MS-related complications, underscoring the importance of personalized care in improving patient outcomes. Full article
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Other

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8 pages, 775 KiB  
Brief Report
Descriptive Analysis of Patients Treated with Diroximel Fumarate and Dimethyl Fumarate—A Real-Life Experience
by Marina Blanco-Ruiz, Belén Sánchez-Rodríguez, Maria Luisa Ruiz-Franco, Emilio Molina Cuadrado, Francisco Sierra García and Carmen Muñoz Fernández
J. Pers. Med. 2025, 15(1), 12; https://doi.org/10.3390/jpm15010012 - 31 Dec 2024
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Abstract
Background: Dimethyl fumarate (DMF) and diroximel fumarate (DRF) are two treatments used for multiple sclerosis (MS) that have been shown to be effective in controlling MS patients. DRF was introduced in 2019 with the aim of decreasing the gastrointestinal side effects caused by [...] Read more.
Background: Dimethyl fumarate (DMF) and diroximel fumarate (DRF) are two treatments used for multiple sclerosis (MS) that have been shown to be effective in controlling MS patients. DRF was introduced in 2019 with the aim of decreasing the gastrointestinal side effects caused by DMF. Few real-life studies verify the data provided in the clinical trials. Methods: A retrospective descriptive study was conducted on MS patients at the Hospital Universitario Torrecárdenas under treatment with DRF and DMF. Demographic, clinical, and analytical variables were studied and compared between groups. Results: A total of 60 patients were recruited, 30 with each treatment, observing similar baseline characteristics. Fewer gastrointestinal (GI) effects were observed in the DRF group, while more infections were detected in the DMF group. We recorded lower levels in the DRF group, with four cases of moderate-severe lymphopenia in the DRF group vs. none in the DMF group. In addition, we observed a decrease in lymphocytes after the change from DMF to DRF in patients with a change. Conclusions: Our real-life analysis of patients treated with DMF or DRF supports several studies’ findings regarding decreased GI side effects with DRF vs. DMF without decreasing efficacy. However, our data show a greater reduction in lymphocytes in patients with DRF compared to DMF, so more studies are necessary. Full article
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29 pages, 3939 KiB  
Systematic Review
A Literature Review and Meta-Analysis on the Potential Use of miR-150 as a Novel Biomarker in the Detection and Progression of Multiple Sclerosis
by Vasile Calin Arcas, Anca Maria Fratila, Doru Florian Cornel Moga, Iulian Roman-Filip, Ana-Maria Cristina Arcas, Corina Roman-Filip and Mihai Sava
J. Pers. Med. 2024, 14(8), 815; https://doi.org/10.3390/jpm14080815 - 31 Jul 2024
Cited by 1 | Viewed by 1223
Abstract
Background: MicroRNA-150 (miR-150) plays a critical role in immune regulation and has been implicated in autoimmune diseases like Multiple Sclerosis (MS). This review aims to evaluate miR-150’s potential as a biomarker for MS, necessitating this review to consolidate current evidence and highlight miR-150’s [...] Read more.
Background: MicroRNA-150 (miR-150) plays a critical role in immune regulation and has been implicated in autoimmune diseases like Multiple Sclerosis (MS). This review aims to evaluate miR-150’s potential as a biomarker for MS, necessitating this review to consolidate current evidence and highlight miR-150’s utility in improving diagnostic accuracy and monitoring disease progression. Methods: A comprehensive literature search was conducted in databases like PubMed, Scopus, Google Scholar, SciSpace, MDPI and Web of Science, adhering to PRISMA guidelines. Studies focusing on miR-150 implications in MS were included. Data extraction was conducted, while quality assessment was done using the NOS and AMSTAR 2 tools. With the extracted data a statistical analyses conducted. Results: 10 eligible articles were included in review. Findings show that miR-150 levels were consistently deregulated in MS patients compared to healthy controls, correlating with disease severity and clinical parameters such as (EDSS) scores and disease activity. Additionally, miR-150 is implicated in the inflammatory pathogenesis of MS, affecting immune cell regulation and inflammatory pathways. Conclusions: MiR-150 is a promising biomarker for MS, showing significant potential for improving diagnostic accuracy and monitoring disease progression. Its consistent deregulation in MS patients and correlation with clinical parameters underscore its clinical utility. Further research should validate miR-150’s salivary presence and its possible usage as a novel biomarker and therapeutic potential in the development of MS. Full article
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