Ethel Ciampi, Lorena García, Claudia Carcamo, Bernardita Soler, Jefferson Becker, Adriana Carra, Edgar Correa-Díaz, Fernando Cortés, Juan Garcia Bonitto, Carolina Guerra, Miguel Angel Macias, Alejandra Martinez, Nelson Novarro, Linda Rivera-Sarabia, Valeria Rocha, Virginia Rodriguez, Douglas Sato, Judith Steinberg, Irene Treviño Frenk, Guido Vasquez, Luis Peña
{"title":"Practical issues concerning the use of optical coherence tomography in multiple sclerosis in Latin America: Discussion from 19 centres on behalf of the Foro Latam EM study group.","authors":"Ethel Ciampi, Lorena García, Claudia Carcamo, Bernardita Soler, Jefferson Becker, Adriana Carra, Edgar Correa-Díaz, Fernando Cortés, Juan Garcia Bonitto, Carolina Guerra, Miguel Angel Macias, Alejandra Martinez, Nelson Novarro, Linda Rivera-Sarabia, Valeria Rocha, Virginia Rodriguez, Douglas Sato, Judith Steinberg, Irene Treviño Frenk, Guido Vasquez, Luis Peña","doi":"10.1177/13524585251329159","DOIUrl":"https://doi.org/10.1177/13524585251329159","url":null,"abstract":"<p><p>The 2024 McDonald Criteria now include the optic nerve as the fifth topography for dissemination in space. Optical coherence tomography (OCT) is a valuable biomarker for the diagnosis, prognosis and monitoring of multiple sclerosis (MS). A panel of MS neurologists from 19 centres across 9 Latin American (LATAM) countries discussed OCT use, access, standardized protocols and research potential. They found inequities in OCT access between private (80%) and public healthcare (44%). Only 9 centres had standardized protocols, 50% of which followed the OSCAR-IB consensus criteria for retinal OCT quality assessment and 53% had a neuro-ophthalmologist. The panel concluded that OCT should be available in all MS centres and that standardized acquisition and reporting, as well as improved knowledge of OCT use, in clinical practice are necessary. OCT has significant research potential in LATAM that requires further development and implementation.</p>","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"13524585251329159"},"PeriodicalIF":4.8,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jacqueline Williams, Wesley M Marin, Kristen J Wade, Rayo Suseno, Kerry Kizer, Stacy Caillier, Danillo G Augusto, Paul J Norman, Jill A Hollenbach
{"title":"Copy number variation at the complement C4 locus is associated with risk for multiple sclerosis.","authors":"Jacqueline Williams, Wesley M Marin, Kristen J Wade, Rayo Suseno, Kerry Kizer, Stacy Caillier, Danillo G Augusto, Paul J Norman, Jill A Hollenbach","doi":"10.1177/13524585251324850","DOIUrl":"https://doi.org/10.1177/13524585251324850","url":null,"abstract":"<p><strong>Background: </strong>The complement system has been suspected to play a role in multiple sclerosis (MS) due to presence of complement activation products in MS lesions.</p><p><strong>Objective: </strong>We sought to understand whether variation in the complement component 4 (C4) gene is associated with MS.</p><p><strong>Methods: </strong>Here we used next-generation sequencing and our novel bioinformatics tool, <i>C4Investigator</i>, to interrogate C4 copy number variation in MS.</p><p><strong>Results: </strong>We found higher overall copy number of C4 in controls (<i>p</i> < 10<sup>-16</sup>, odds ratio (OR) = 0.43, 95% confidence interval (CI): 0.37-0.49) compared to MS patients with European ancestry.</p><p><strong>Conclusion: </strong>This finding suggests that lower C4 copies confer risk for MS, similar to associations seen in other autoimmune disorders.</p>","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"13524585251324850"},"PeriodicalIF":4.8,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634150","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A breathtaking case of NMOSD: About pulmonary involvement in patients with AQP4-antibodies.","authors":"Romain Marignier","doi":"10.1177/13524585251320923","DOIUrl":"https://doi.org/10.1177/13524585251320923","url":null,"abstract":"","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"13524585251320923"},"PeriodicalIF":4.8,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The confavreux lecture: The radiologically isolated syndrome diagnosis, prognosis and perspectives.","authors":"Christine Lebrun-Frenay","doi":"10.1177/13524585241311217","DOIUrl":"10.1177/13524585241311217","url":null,"abstract":"<p><p>Radiologically isolated syndrome (RIS) is the earliest documented stage in the disease continuum of multiple sclerosis (MS). It is discovered incidentally in individuals who are asymptomatic but have typical lesions in the brain or spinal cord suggestive of autoimmune inflammatory demyelination. The revised 2023 RIS criteria aim to secure an accurate and timely diagnosis due to the presence of imaging mimics. These criteria require having at least one T2-weighted hyperintense lesion in one of the four suggestive MS locations along with two of the following three features: spinal cord lesion, cerebrospinal fluid (CSF)-restricted oligoclonal bands, or new T2 or gadolinium-enhancing lesion observed on a subsequent magnetic resonance imaging (MRI) study. Once the diagnosis is confirmed, established risk factors, including age, lesion location and CSF, significantly improve prognostic stratification, which is crucial for immunoactive interventions. Recent clinical trials have shown that oral disease-modifying treatments can delay or prevent the first clinical event in RIS patients. Consulting with an MS team for each RIS case is strongly recommended to enhance care and disease surveillance. The revised 2024 McDonald criteria will classify individuals with additional CSF and advanced MRI biomarkers as having preclinical MS, highlighting the importance of vigilance in this area.</p>","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"249-256"},"PeriodicalIF":4.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"An interdisciplinary approach is necessary in the treatment of cognitive decline in multiple sclerosis: Yes.","authors":"Sarah J Donkers, Lisa As Walker","doi":"10.1177/13524585251315344","DOIUrl":"10.1177/13524585251315344","url":null,"abstract":"","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"257-259"},"PeriodicalIF":4.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11907722/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143502694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"An interdisciplinary approach is necessary in the treatment of cognitive decline in MS: No.","authors":"Friedemann Paul","doi":"10.1177/13524585251315365","DOIUrl":"10.1177/13524585251315365","url":null,"abstract":"","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"259-261"},"PeriodicalIF":4.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143502691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Burcu Zeydan, Jiye Son, Nur Neyal, Christopher G Schwarz, Elizabeth J Atkinson, Holly A Morrison, Nabeela Nathoo, Kejal Kantarci, Eoin P Flanagan, John D Port, Orhun H Kantarci
{"title":"Upper cervical spinal cord atrophy in MS: Sex, menopause, and neurodegeneration.","authors":"Burcu Zeydan, Jiye Son, Nur Neyal, Christopher G Schwarz, Elizabeth J Atkinson, Holly A Morrison, Nabeela Nathoo, Kejal Kantarci, Eoin P Flanagan, John D Port, Orhun H Kantarci","doi":"10.1177/13524585241311441","DOIUrl":"10.1177/13524585241311441","url":null,"abstract":"<p><strong>Background: </strong>Spinal cord (SC) atrophy is a key imaging biomarker of progressive multiple sclerosis (MS). Progressive MS is more common in men and postmenopausal women.</p><p><strong>Objective: </strong>Investigate the impact of sex and menopause on SC measurements in persons with MS (pwMS).</p><p><strong>Methods: </strong>In pwMS and age- and sex-matched controls, upper cervical SC area from brain MRI (UCC<sub>brain</sub>) was obtained. Impact of sex and menopause on UCC<sub>brain</sub> (adjusted for total intracranial volume) and its association with progression and disability, including MS functional composite (MSFC), were investigated.</p><p><strong>Results: </strong>UCC<sub>brain</sub> was smaller in pwMS (<i>n</i> = 118, 51.4 ± 5.3 mm<sup>2</sup>) than controls (<i>n</i> = 118, 54.2 ± 4.4 mm<sup>2</sup>, <i>p</i> < 0.001) and inversely correlated with older age in pwMS (<i>r</i> = -0.24, <i>p</i> = 0.010) but not in controls (<i>r</i> = -0.025, <i>p</i> = 0.786). In 173 pwMS (413 brain MRIs), UCC<sub>brain</sub> was smaller in men (49.5 ± 5.9 mm<sup>2</sup>) than women (51.6 ± 5.5 mm<sup>2</sup>, <i>p</i> = 0.001), postmenopausal women (49.4 ± 5.6 mm<sup>2</sup>) than premenopausal women (52.9 ± 4.1 mm<sup>2</sup>, <i>p</i> < 0.001), and progressive (47.5 ± 5.6 mm<sup>2</sup>) than relapsing MS (52.1 ± 5.2 mm<sup>2</sup>, <i>p</i> < 0.001). UCC<sub>brain</sub> also correlated with disease duration (<i>r</i> = -0.39, <i>p</i> < 0.001), 9-hole peg test (<i>r</i> = -0.26, <i>p</i> = 0.005), and severe ambulatory disability (Expanded Disability Status Scale ⩾6) (<i>r</i> = -0.27, <i>p</i> < 0.001).</p><p><strong>Conclusion: </strong>UCC<sub>brain</sub>, a biomarker of progressive MS, is inversely associated with age, disease duration, male sex, and menopause, highlighting the potential impact of sex and hormones on neurodegeneration in MS.</p>","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"278-289"},"PeriodicalIF":4.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11919563/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Challenges and implications of anti-JCV antibody serology variability among different assays in natalizumab treatment: A call for standardization and transparency in clinical practice.","authors":"Hernan Inojosa, Annika Kather, Katja Akgün, Tjalf Ziemssen","doi":"10.1177/13524585241300972","DOIUrl":"10.1177/13524585241300972","url":null,"abstract":"","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"376-377"},"PeriodicalIF":4.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Multiple Sclerosis Cognitive Scale (MSCS): A brief psychometrically robust metric of patient-reported cognitive difficulty.","authors":"James F Sumowski, Joshua Sandry","doi":"10.1177/13524585241309805","DOIUrl":"10.1177/13524585241309805","url":null,"abstract":"<p><strong>Background: </strong>Existing metrics of patient-reported cognitive difficulties in multiple sclerosis (MS) are lengthy, lack psychometric rigor, and/or fail to query prevalent expressive language deficits.</p><p><strong>Objective: </strong>Develop a brief psychometrically robust metric of patient-reported cognitive deficits that includes language items; the Multiple Sclerosis Cognitive Scale (MSCS).</p><p><strong>Method: </strong>Exploratory factor analysis (EFA) was conducted on 20 Perceived Deficits Questionnaire (PDQ) items plus five newly developed language questions in a large MS sample and matched respondents without neurologic disease. Independent confirmatory principal components analysis (PCA) assessed EFA factor structure. Reliability of the new scale and subscales, and relationships with objective cognitive impairment and cognitive change, were assessed.</p><p><strong>Results: </strong>EFA in patients (<i>n</i> = 502) and controls (<i>n</i> = 350), item analyses, and confirmatory PCA in an independent sample (<i>n</i> = 361 patients; 150 controls) supported construction of an eight-item scale with four two-item subscales: Executive/Speed, Working Memory, Expressive Language, and Episodic Memory. Internal consistency and test-retest reliability were excellent for the total MSCS (<i>α</i> = 0.93, ICC = 0.95) and good for each subscale (<i>α</i>'s:0.83-0.87; ICCs: 0.86-0.92). MSCS showed medium-size links to cross-sectional objective cognitive impairment (<i>η</i><sup>2</sup> = .06) and cognitive change over time (<i>η</i><sup>2</sup> = .07); the traditional PDQ did not (<i>η</i><sup>2</sup>s = 0.01 and 0.02).</p><p><strong>Conclusion: </strong>The brief MSCS is a psychometrically robust, reliable, and valid metric of patient-reported cognitive deficits in MS that holds promise for improving assessment of MS cognitive dysfunction.</p>","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"352-362"},"PeriodicalIF":4.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11907727/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Elisabeth Maillart, Fabien Rollot, Emmanuelle Leray, Lakhdar Benyahya, Bertrand Bourre, Clarisse Carra-Dallière, Romain Casey, Kumaran Deiva, Catherine Girod, Anne-Marie Guennoc, Romain Marignier, Pierre Labauge, Caroline Bensa, Jérôme De Sèze, Eric Berger, Damien Biotti, Saskia Bresch, Eric Thouvenot, Thibault Moreau, Nathalie Derache, Hélène Zéphir, Emmanuelle Le Page, Pierre Clavelou, Olivier Casez, David Laplaud, Arnaud Kwiatkowski, Clara Grosset-Janin, Sophie Pittion-Vouyovitch, Aurélie Ruet, Amélie Dos Santos, Florence Robert-Varvat, Nathalie Morel, Christine Lebrun-Frenay, Sandra Vukusic
{"title":"Pregnancy and birth outcomes in women with multiple sclerosis: Comparison of the RESPONSE study to the general French population.","authors":"Elisabeth Maillart, Fabien Rollot, Emmanuelle Leray, Lakhdar Benyahya, Bertrand Bourre, Clarisse Carra-Dallière, Romain Casey, Kumaran Deiva, Catherine Girod, Anne-Marie Guennoc, Romain Marignier, Pierre Labauge, Caroline Bensa, Jérôme De Sèze, Eric Berger, Damien Biotti, Saskia Bresch, Eric Thouvenot, Thibault Moreau, Nathalie Derache, Hélène Zéphir, Emmanuelle Le Page, Pierre Clavelou, Olivier Casez, David Laplaud, Arnaud Kwiatkowski, Clara Grosset-Janin, Sophie Pittion-Vouyovitch, Aurélie Ruet, Amélie Dos Santos, Florence Robert-Varvat, Nathalie Morel, Christine Lebrun-Frenay, Sandra Vukusic","doi":"10.1177/13524585251316474","DOIUrl":"10.1177/13524585251316474","url":null,"abstract":"<p><strong>Background: </strong>Retrospective studies did not show strong evidence of higher risk of adverse neonatal or pregnancy outcomes in women with multiple sclerosis (MS) compared to general population, but there are contradictory data on prematurity, cesarean section, and small birthweight for gestational age (SGA).</p><p><strong>Methods: </strong>We compared pregnancy and birth outcomes in MS women included in RESPONSE, a French prospective cohort, with a recent survey (Enquête Nationale Périnatale (ENP)) describing leading indicators in perinatal epidemiology in France.</p><p><strong>Results: </strong>On 7 April 2023, 476 pregnancies (461 MS women, 482 expected newborns) from RESPONSE were available. The ENP study reported 12,723 women and 12,939 expected newborns in March 2021. MS patients were older (mean age 32.6 ± 4.4 vs. 30.9 ± 5.3 years, <i>p</i> < 0.001), with similar rate of cesarean (23.8% vs. 21.4%, <i>p</i> = 0.115) and use of locoregional analgesia (86.6% vs. 85.1%, <i>p</i> = 0.51). Preterm birth was less frequent (4.0% vs. 7.0%, <i>p</i> = 0.001). Birthweight of children from MS mothers was similar to general population (3240 ± 477.2 vs. 3264.5 ± 552.9 g, <i>p</i> = 0.22), with slightly more children with SGA (13.4% vs. 9.8%, <i>p</i> = 0.04).</p><p><strong>Conclusion: </strong>This prospective and contemporary comparison of pregnancy in MS women and the French population provides reassuring results. In the future, we need to assess the impact of disease-modifying treatment exposure during conception.</p>","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":"31 3","pages":"324-337"},"PeriodicalIF":4.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143657832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}