Review
Biochemistry & Molecular Biology
Marianna Gabriella Rispoli, Silvia Valentinuzzi, Giovanna De Luca, Piero Del Boccio, Luca Federici, Maria Di Ioia, Anna Digiovanni, Eleonora Agata Grasso, Valeria Pozzilli, Alessandro Villani, Antonio Maria Chiarelli, Marco Onofrj, Richard G. Wise, Damiana Pieragostino, Valentina Tomassini
Summary: Metabolomics-based technologies have the potential to serve as early indicators of neurological conditions, particularly in multiple sclerosis (MS), and as tools for diagnosis and treatment monitoring. Researchers have identified promising biomarkers and metabolic pathways through pathway analysis of metabolites, which could pave the way for novel research avenues.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Medicine, General & Internal
Zuber Khan, Ghanshyam Das Gupta, Sidharth Mehan
Summary: This study examines the difficulties in detecting and treating multiple sclerosis in India. A lack of MS knowledge among healthcare professionals and the general public delays diagnosis and treatment. Inadequate numbers of neurologists and professionals with knowledge of MS management exacerbate the situation. MS medications are expensive and not covered by insurance, making them inaccessible to most patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Marta Gil-Martinez, Clara Lorente-Sorolla, Sara Naharro, Jose M. Rodrigo-Munoz, Victoria del Pozo
Summary: Asthma is a heterogeneous inflammatory disease of the airways that causes breathing difficulties and greatly diminishes quality of life. Epigenetic regulation, specifically post-transcriptional mediation of miRNAs, plays a role in the development of asthma. MiRNAs regulate cell behavior in airway structure and defense mechanisms, making them potential biomarkers for disease and improving clinical management. This review summarizes the roles of miRNAs in asthma and discusses their potential as biomarkers for disease profiling, subtype identification, and treatment selection.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Immunology
Nicolas Fissolo, Laura Calvo-Barreiro, Herena Eixarch, Ursula Boschert, Luisa M. Villar, Lucienne Costa-Frossard, Mireia Ferrer, Alex Sanchez, Eva Borras, Eduard Sabido, Carmen Espejo, Xavier Montalban, Manuel Comabella
Summary: This study characterized the transcriptomic and proteomic profiles induced by cladribine in blood cells, and identified potential treatment response biomarkers to cladribine in patients with multiple sclerosis.
FRONTIERS IN IMMUNOLOGY
(2023)
Editorial Material
Biochemistry & Molecular Biology
Victor M. Rivera
Summary: The special issue covers the latest research advances in the diagnosis and treatment of multiple sclerosis, including related molecular and cellular mechanisms, novel laboratory techniques, and epidemiological observations. Discussions also include topics such as mitochondrial-mediated apoptosis, the importance of Neurofilaments determinations in early diagnosis, and the therapeutic potential of Sphingosine-1-phosphate receptor modulator.
Review
Health Care Sciences & Services
Viviana Nociti, Marina Romozzi, Massimiliano Mirabella
Summary: Multiple sclerosis (MS) is a complex disease with broad individual and interindividual heterogeneity. Standardization of characteristics in individual patients has been difficult, but easily detectable molecular biomarkers can provide a personalized therapy approach.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Review
Biochemistry & Molecular Biology
Julia Doroszkiewicz, Magdalena Groblewska, Barbara Mroczko
Summary: The degeneration and dysfunction of neurons are key features of neurodegenerative diseases. Researchers and clinicians face challenges in early diagnosis and detection of neuronal dysfunction. miRNAs and extracellular microvesicles may serve as potential biomarkers for diagnosis and research of neurodegenerative diseases, but there are limitations to their use.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Clinical Neurology
Isabel Sanchez-Vera, Esther Escudero, Ursula Munoz, Maria C. Sadaba
Summary: Multiple sclerosis (MS) is a debilitating disease that affects the central nervous system, often leading to the need for wheelchair assistance within 15 years of onset. Currently, there is no standardized technique for diagnosing MS, with the detection of oligoclonal IgG bands (OIgGBs) being the most sensitive assay, but limited to reference laboratories and requiring cerebrospinal fluid. Early diagnosis is crucial for better disease management, but existing disease modifying therapies come with significant side effects and a considerable percentage of patients discontinuing treatment. Research has focused on identifying predictive biomarkers for treatment response, and a new assay involving the detection of serum IgM to phosphatidylcholine has shown promise in predicting treatment response.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
(2023)
Review
Biochemistry & Molecular Biology
Angelika Krol-Grzymala, Edyta Sienkiewicz-Szlapka, Ewa Fiedorowicz, Dominika Rozmus, Anna Cieslinska, Andrzej Grzybowski
Summary: This review investigates and analyzes the biomarkers for AD, PD, and MS in tears. Through analyzing the recent original studies, the biomarkers present in tears that can be used for the diagnosis and management of these diseases are shown.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Neurosciences
Bruno Costa Gomes, Nuno Peixinho, Rita Pisco, Marta Gromicho, Ana Catarina Pronto-Laborinho, Jose Rueff, Mamede de Carvalho, Antonio Sebastiao Rodrigues
Summary: Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease that causes muscle control loss, muscle atrophy, and death. This study aimed to assess the differential expression of plasma miRNAs in ALS patients and control populations. Although no specific miRNA signature for ALS diagnosis was identified, miR-7-2-3p, miR-26a-1-3p, miR-224-5p, and miR-206 were found to be potential candidates for understanding the pathophysiology of ALS.
MOLECULAR NEUROBIOLOGY
(2023)
Review
Genetics & Heredity
Chiara Villa, Andrea Stoccoro
Summary: Alzheimer's disease is a progressive neurodegenerative disorder that leads to cognitive impairment and dementia in older individuals. Detection of altered epigenetic signatures in blood may assist in the early diagnosis and treatment of the disease.
Review
Immunology
Rongzeng Liu, Shushu Du, Lili Zhao, Sahil Jain, Kritika Sahay, Albert Rizvanov, Vera Lezhnyova, Timur Khaibullin, Ekaterina Martynova, Svetlana Khaiboullina, Manoj Baranwal
Summary: Multiple sclerosis is a chronic inflammatory disease of the central nervous system characterized by destruction of the myelin sheath. Immune mechanisms, particularly abnormal lymphocyte activity, play a key role in the pathogenesis of multiple sclerosis. This review summarizes the abnormal function and count of lymphocytes and their contributions to the mechanisms of multiple sclerosis. Additionally, novel therapies aimed at correcting the aberrant function or count of these lymphocytes are discussed.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Medicine, General & Internal
Jiangfan Yu, Rui Tang, Ke Ding
Summary: Systemic sclerosis is a rare chronic autoimmune disease that involves genetic and environmental factors, as well as the influence of epigenetic regulation.
INTERNATIONAL JOURNAL OF GENERAL MEDICINE
(2022)
Article
Clinical Neurology
Carlo Pozzilli, Maura Pugliatti, Patrick Vermersch, Nikolaos Grigoriadis, Mona Alkhawajah, Laura Airas, Celia Oreja-Guevara
Summary: This article examines the impact of diagnostic definitions of progressive multiple sclerosis (MS) on clinical research, clinical trial design, and treatment decisions. The results show that inconsistent results in clinical studies of treatments for progressive MS may be attributed to differences in patient characteristics and endpoint definitions. Younger patients with more active disease are likely to benefit the most from available treatments. Therefore, treatment decisions should be based on individual patient's disease progression pattern and parameters, rather than their clinical phenotype. Careful selection of eligibility criteria and study endpoints is necessary for future studies in patients with progressive MS.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Health Care Sciences & Services
Cristina Ramo-Tello, Yolanda Blanco, Luis Brieva, Bonaventura Casanova, Eva Martinez-Caceres, Daniel Ontaneda, Lluis Ramio-Torrenta, Alex Rovira
Summary: Minimizing the risk of relapse is crucial in the treatment of multiple sclerosis (MS). This article aims to improve the quality of care for this neurological process by addressing key concepts, clinical examination recommendations, classification criteria, imaging techniques, biomarkers, and specific therapeutic advice for special populations. An algorithm for treating MS relapses is also provided.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Clinical Neurology
Marcus W. Koch, Jop Mostert, Pavle Repovic, James D. Bowen, Bernard Uitdehaag, Gary Cutter
Summary: The study found that in patients with SPMS, SDMT scores steadily increased over a 2-year follow-up period, with overall few SDMT worsening events occurring throughout the trial. Additionally, PASAT scores exhibited a similar pattern of change as SDMT.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Marcus W. Koch, Jop Mostert, Pavle Repovic, James D. Bowen, Eva Strijbis, Bernard Uitdehaag, Gary Cutter
Summary: In primary progressive MS (PPMS) patients, smoking was found to be associated with disability worsening, while obesity showed no significant correlation. Over three years of follow-up, smoking and BMI were not linked to physical and cognitive disability worsening risk.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Marcus W. Koch, Jop Mostert, Pavle Repovic, James D. Bowen, Eva Strijbis, Bernard Uitdehaag, Gary Cutter
Summary: The study investigated the association between MRI outcomes and physical and cognitive disability worsening in people with SPMS using data from the ASCEND trial. Results showed that while there was no association between MRI measures and EDSS or SDMT worsening, worsening in T25FW and NHPT was associated with specific MRI outcomes. The study concluded that standard MRI outcomes may not be useful surrogates of disability measures in SPMS.
MULTIPLE SCLEROSIS JOURNAL
(2022)
Article
Clinical Neurology
Marcus W. Koch, Jop Mostert, Pavle Repovic, James D. Bowen, Jerry S. Wolinsky, Fred D. Lublin, Eva Strijbis, Gary Cutter
Summary: This study investigated the risk factors associated with early treatment failure in RRMS and found that early treatment failure was related to NEDA-3 failure at 36 months, but not to subsequent disability worsening. The majority of NEDA-3 failures were due to MRI activity. Further research into defining treatment success and failure in RRMS is necessary.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Marcus W. Koch, Jop Mostert, Pavle Repovic, James D. Bowen, Eva Strijbis, Bernard Uitdehaag, Gary Cutter
Summary: HRQOL measures were most associated with EDSS and T25FW, less so with NHPT and SDMT, and not associated with lesional and volumetric imaging outcomes.
MULTIPLE SCLEROSIS JOURNAL
(2022)
Editorial Material
Clinical Neurology
Gary R. Cutter, Marcus W. Koch
Article
Immunology
Isabelle Tottenham, Marcus Koch, Carlos Camara-Lemarroy
Summary: This study analyzed circulating biomarkers of hypoxia and angiogenesis in patients with Secondary Progressive MS (SPMS) and found that concentrations of glucose transporter-1 (Glut-1) were higher, while levels of angiopoietin-2 (APN2) and hepatocyte growth factor (HGF) were lower, in SPMS patients with disability worsening.
JOURNAL OF NEUROIMMUNOLOGY
(2022)
Article
Clinical Neurology
Marcus W. Koch, Jop Mostert, Pavle Repovic, James D. Bowen, Jacynthe Comtois, Eva Strijbis, Bernard Uitdehaag, Gary Cutter
Summary: This study found that using timed 25-foot walk (T25FW) as the primary outcome measure might be more useful than the Expanded Disability Status Scale (EDSS) in clinical trials for primary progressive MS (PPMS), and using T25FW could shorten the duration of clinical trials. Additionally, the presence of contrast-enhancing lesions (CELs) at baseline was associated with disability outcomes.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Eva M. M. Strijbis, Pavle Repovic, Jop Mostert, James D. Bowen, Bernard M. J. Uitdehaag, Gary Cutter, Marcus W. Koch
Summary: This study investigated the performance of patient-reported outcome measures (PROMs) as longitudinal outcomes in individuals with secondary progressive multiple sclerosis (SPMS). The results showed minimal changes in PROM scores over the 2-year follow-up period, with no consistent trend in improvement or worsening. These findings suggest caution in using PROMs as primary outcome measures in SPMS trials.
MULTIPLE SCLEROSIS JOURNAL
(2022)
Article
Clinical Neurology
Carlos Camara-Lemarroy, Claudia Silva, Jit Gohill, V. Wee Yong, Marcus Koch
Summary: In this cohort of patients with inactive PPMS, HCQ treatment attenuated the increase of NfL and GFAP after 6 months of treatment and up to 18 months of follow-up, suggesting a treatment effect of HCQ over these biomarkers. RNFL thickness, a marker of neuroaxonal atrophy, was associated with disability worsening and should be explored further as a prognostic marker in this population.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Marcus W. Koch, Pavle Repovic, Jop Mostert, James D. Bowen, Jacynthe Comtois, Eva Strijbis, Bernard Uitdehaag, Gary Cutter
Summary: This study used patient-level data from two large randomized controlled trials to investigate the performance of alternative scoring methods for the nine-hole peg test (NHPT) in progressive multiple sclerosis (MS). The results showed that the standard NHPT and dominant hand (DH) or non-dominant hand (NDH) alternatives had minimal change, while the NHPT using either hand (EH) resulted in more worsening events. Non-ambulatory patients with progressive MS had more NHPT worsening, especially when using the EH NHPT. Therefore, NHPT can be used as the primary outcome measure in clinical trials involving non-ambulatory patients, but further research is needed to assess its precision in this population.
MULTIPLE SCLEROSIS AND RELATED DISORDERS
(2023)
Article
Clinical Neurology
Marcus W. Koch, Pavle Repovic, Jop Mostert, James D. Bowen, Jacynthe Comtois, Eva Strijbis, Bernard Uitdehaag, Gary Cutter
Summary: This study investigates the short-term variation in T25FW and NHPT using patient-level original trial data and compares it with disability change at 12-month follow-up in people with PPMS. The traditional =20% change threshold for T25FW and NHPT represents a reasonable compromise between reducing false change events and achieving a large number of change events during follow-up.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Eline Coerver, Sophie Janssens, Aroosa Ahmed, Mark Wessels, Zoe van Kempen, Bas Jasperse, Frederik Barkhof, Marcus Koch, Jop Mostert, Bernard Uitdehaag, Joep Killestein, Eva Strijbis
Summary: Inflammatory disease activity in multiple sclerosis (MS) decreases with advancing age, and this study investigated the relation between age and MRI measures of inflammatory disease activity in a real-world cohort of people with relapse onset MS.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Nina Castrogiovanni, Jop Mostert, Pavle Repovic, James D. D. Bowen, Bernard M. J. Uitdehaag, Eva M. M. Strijbis, Gary R. R. Cutter, Marcus W. W. Koch
Summary: This study used data from a large clinical trial to describe the change in Symbol Digit Modalities Test (SDMT) and Paced Auditory Serial Addition Test (PASAT) over up to 144 weeks of follow-up. The findings showed that both SDMT and PASAT scores steadily improved throughout the follow-up period, most likely due to a practice effect. Therefore, caution should be exercised when interpreting these cognitive outcome measures as longitudinal outcomes in clinical trials.
Meeting Abstract
Clinical Neurology
H. Yong, I. E. Tottenham, C. Silva, M. W. Koch, C. Camara-Lemarroy
MULTIPLE SCLEROSIS JOURNAL
(2023)
