Revue neurologique最新文献

{"title":"Clinical presentations and antibody mechanisms in anti-IgLON5 disease","authors":"","doi":"10.1016/j.neurol.2024.07.004","DOIUrl":"10.1016/j.neurol.2024.07.004","url":null,"abstract":"<div><div>Anti-IgLON5 disease is a rare neurological disease, identified just ten years ago, where autoimmunity and neurodegeneration converge. The heterogeneity of symptoms, sometimes mimicking pure neurodegenerative diseases or motor neuron diseases, in addition to lack of awareness, represents a diagnostic challenge. Biomarkers of neuronal damage in combination with in vivo visualization of tau deposition using positron emission tomography (PET) scanning could represent a major advance in monitoring disease progression. Recent studies with more autopsies available have helped refine the knowledge of the pathological features of the disease and strengthen the autoimmune hypothesis of the disease. Although the pathogenesis of anti-IgLON5 disease remains unclear, the irreversible antibody-mediated decrease of IgLON5 clusters from the cell surface and alterations produced in the cytoskeleton, as well as the behavioural abnormalities and signs of neuroinflammation and neurodegeneration observed in the brains of animals infused with antibodies from patients by passive transfer, which have recently been published, support the autoimmune hypothesis of the disease. This review aims to summarize these important aspects and recent advances in the pathophysiology of anti-IgLON5 disease.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142294303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Strategies to improve autoimmune neurological diseases treatment","authors":"","doi":"10.1016/j.neurol.2024.08.005","DOIUrl":"10.1016/j.neurol.2024.08.005","url":null,"abstract":"<div><div>There is a need to improve therapies in autoimmune neurologic conditions. Yet which strategic objectives are required, what are the barriers that stand before reaching them, and what are the options to address them? This article tries to summarize these objectives and their respective barriers. It discusses the difficulties in identifying molecular targets, biomarker-defined subgroups, the merits of upstream and downstream-targeted therapies, the need to develop autoreactivity-specific treatments in contrast to cell-type specific therapies, and the “evidence-bottleneck”. Its focus is on autoantigen-specific autoimmunopathies in neurology. It also discusses the role of B- and T-cells in autoimmune neurology and how these can be exploited therapeutically. Finally, it argues for improved training of present and future neuroimmunologists.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142294307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inflammatory myopathies in 2024: Better classify them to better treat them","authors":"","doi":"10.1016/j.neurol.2024.09.003","DOIUrl":"10.1016/j.neurol.2024.09.003","url":null,"abstract":"<div><div>The discovery, over the last forty years or so, of specific myositis auto-antibodies (easily dosed in routine nowadays) and the fine clinically and pathologically phenotypic descriptions of affected patients have made it possible to review the classification of inflammatory myopathies. The arrival of “omic” techniques has also led to the discovery of different pathophysiological mechanisms among these different subgroups of myositis. Naturally, therapeutic approaches specifically targeting the representative abnormal pathways of each subgroup are being evaluated. This modern approach to myositis, which is clinical, pathophysiological, and therapeutic in the making, is presented in this review article.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142352998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The neurobiology and immunology of CASPR2-associated neurological disorders","authors":"","doi":"10.1016/j.neurol.2024.09.005","DOIUrl":"10.1016/j.neurol.2024.09.005","url":null,"abstract":"<div><div>CASPR2-associated neurological disorders encompass a wide clinical spectrum broadly divided into overlapping three autoimmune syndromes: CASPR2 limbic encephalitis, Morvan syndrome, and Isaacs syndrome. CASPR2 is a neuronal protein expressed at different sites in the central and peripheral nervous system and has a variety of roles and functions regarding neuronal excitability, synaptic plasticity, and homeostasis of inhibitory networks, most of which are only partially understood. CASPR2 antibodies have various pathogenic effects including internalization of CASPR2, disruption of protein-protein interactions, and, possibly, complement activation. Their pathogenic effect is well demonstrated in the limbic encephalitis phenotype, but the role of pathogenic antibodies in the development of other clinical manifestations is less clear. CASPR2 limbic encephalitis also differ from the other CASPR2-associated disorders in regard to HLA allele and paraneoplastic associations, suggesting it has immunological mechanisms distinct from the other clinical forms. Future studies are needed to better understand how the immunological alterations lead to the different phenotypes associated with CASPR2 antibodies.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142352999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"40 years of autoantibody research in paraneoplastic neurological syndromes","authors":"","doi":"10.1016/j.neurol.2024.07.003","DOIUrl":"10.1016/j.neurol.2024.07.003","url":null,"abstract":"<div><div>Paraneoplastic neurologic syndromes (PNS) are a group of disorders that affect the central and the peripheral nervous system and frequently occur in patients with cancer which usually still is undiagnosed by the time the patient presents the first neurological manifestations. The discovery in the serum and cerebrospinal fluid of PNS patients of antibodies that target tumor antigens that also are normally expressed in the nervous system had a significant impact. First, the research on neuronal antibodies confirmed that most PNS are autoimmune disorders triggered by the underlying cancer supporting the use of immunotherapy to treat them; second, although the first antibodies described recognized intracellular neuronal antigens and therefore they were not pathogenic, these antibodies became robust biomarkers for the strict diagnosis of PNS; and third, the methodological approach used to characterize the first neuronal antibodies paved the way to the identification of antibodies against neuronal surface antigens that are pathogenic and responsible for some PNS and non-paraneoplastic encephalitis. Future studies should address several issues: (1) to improve the efficiency of commercial kits; (2) to provide strict criteria to select which neural antibodies should be used for the diagnosis of PNS; and (3) define in more detail the autoimmune mechanisms responsible for the brain injury in the PNS.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142256857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"New treatment strategies in Myasthenia gravis","authors":"","doi":"10.1016/j.neurol.2024.09.006","DOIUrl":"10.1016/j.neurol.2024.09.006","url":null,"abstract":"<div><div>Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disorder characterized by muscle weakness and fatigue. The disease is primarily caused by antibodies targeting acetylcholine receptors (AChR) and muscle-specific kinase (MuSK) proteins at the neuromuscular junction. Traditional treatments for MG, such as acetylcholinesterase inhibitors, corticosteroids, and immunosuppressants, have shown efficacy but are often associated with significant long-term side effects and variable patient response rates. Notably, approximately 15% of patients exhibit inadequate responses to these standard therapies. Recent advancements in molecular therapies, including monoclonal antibodies, B cell-depleting agents, complement inhibitors, Fc receptor antagonists, and chimeric antigen receptor (CAR) T cell-based therapies, have introduced promising alternatives for MG treatment. These novel therapeutic approaches offer potential improvements in targeting specific immune pathways involved in MG pathogenesis. This review highlights the progress and challenges in developing and implementing these molecular therapies. It discusses their mechanisms, efficacy, and the potential for personalized medicine in managing MG. The integration of new molecular therapies into clinical practice could significantly transform the treatment landscape of MG, offering more effective and tailored therapeutic options for patients who do not respond adequately to traditional treatments. These innovations underscore the importance of ongoing research and clinical trials to optimize therapeutic strategies and improve the quality of life for individuals with MG.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Postural balance and visual dependence in patients with demyelinating neuropathies differ between acquired and hereditary etiologies.","authors":"L Dupont, L Defebvre, J-B Davion, A Delval, C Tard","doi":"10.1016/j.neurol.2024.10.002","DOIUrl":"https://doi.org/10.1016/j.neurol.2024.10.002","url":null,"abstract":"<p><strong>Background: </strong>Demyelinating polyneuropathies affect posture and can be either hereditary, as in Charcot-Marie-Tooth type 1A (CMT1A), or autoimmune, as in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Clinical differentiation between these two neuropathies can be challenging and biomarkers are lacking. No comparative analysis of their balance profiles has been conducted.</p><p><strong>Methods: </strong>The postural balance of 23 patients with CIDP and 23 patients with CMT1A, matched for age, sex, and functional scores, were recorded using a force platform under various conditions. The effects of visual dependence were examined based on center of pressure velocity, 90% confidence ellipse area, and the Romberg quotient which represents the ratio between posturography with eyes closed and eyes open.</p><p><strong>Results: </strong>With eyes open, the two groups exhibited similar area and velocity. They increased their postural sway when visual input was eliminated. Nevertheless, the increase in postural sway was less pronounced in CMT1A patients than in patients with CIDP, who then had a higher Romberg quotient.</p><p><strong>Conclusion: </strong>Patients with CMT1A appear to have developed compensatory mechanisms over time resulting in reduced visual dependence. Further studies are necessary to explore other compensatory mechanisms of equilibrium that could be targeted by rehabilitation for patients with CIDP.</p>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142506971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epidemiology of optic disc edema in 2021/2022: Results from a cohort of 197 patients.","authors":"R Attia, N Stolowy, R Fitoussi, K Mairot, T David","doi":"10.1016/j.neurol.2024.09.010","DOIUrl":"https://doi.org/10.1016/j.neurol.2024.09.010","url":null,"abstract":"<p><strong>Objective: </strong>The aim of our study was to determine the etiologies of optic disc edema between 2021 and 2022.</p><p><strong>Materials and methods: </strong>This was a multicentric study at the Timone and Nord university hospitals in Marseille. Patients were retrospectively followed in ophthalmology departments, with inclusion between January 2021 and December 2022. All patients presenting with newly diagnosed uni- or bilateral optic disc edema, both adults and children, were included. Their ophthalmological evaluation included a fundus examination and optical coherence tomography if feasible.</p><p><strong>Results: </strong>In total, 197 patients were included. Intracranial hypertension (IH) was the most frequent etiology (37.06%). The primary causes of IH were idiopathic (27/73), intracranial tumors (21/73), and cerebral venous thrombosis (12/73). The second etiology of optic disc edema was retinal vein occlusion in 19.9% of cases (39/197). Edema reactive to uveitis was found in 13.2% of cases (26/197). Finally, inflammatory (17/197) and ischemic (30/197) optic neuropathies were identified.</p><p><strong>Conclusion: </strong>This study updates the most frequent etiologies of optic disc edema in 2021 and 2022 to facilitate diagnostic hypotheses for de novo optic disc edema. It highlights the importance of a comprehensive and personalized evaluation in diagnosing optic disc edema, taking into account recent advances in imaging techniques and biomarkers.</p>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142473656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"French validation of the sexual complaints screener (SCS) for patients with multiple sclerosis.","authors":"S Bresch, H Joly, R Colamarino, I Bentellis, S Tur, S Fakir, C Burte, C Lebrun-Frenay","doi":"10.1016/j.neurol.2024.09.009","DOIUrl":"https://doi.org/10.1016/j.neurol.2024.09.009","url":null,"abstract":"<p><strong>Background: </strong>Sexual dysfunctions are frequent in the general population and even more frequent in individuals with chronic neurological disorders like multiple sclerosis (MS). Several studies indicate that patients would like healthcare workers to address sexual problems. Indeed, such complaints are not currently sufficiently detected and treated. In clinical practice, a screening tool is lacking to help French-speaking patients and healthcare professionals address this issue.</p><p><strong>Objective: </strong>The main aim of this study was to evaluate the reliability and validity of the French adaptation of the self-assessment Sexual Complaints Screener scale for Women (SCS-W) and Men (SCS-M).</p><p><strong>Method: </strong>A prospective study was conducted among patients with MS in two centers. The SCS-W was adapted into French (QPS-F: questionnaire de plaintes sexuelles - Femmes) and compared to the reference questionnaire Female Sexual Function Index-19 (FSFI-19). The SCS-M was adapted into French (QPS-H: questionnaire de plaintes sexuelles - Hommes) and compared to the reference International Index of Erectile Function-15 (IIEF-15).</p><p><strong>Results: </strong>Included were 101 women and 35 men with MS. Median age was 40.5 (range: 20-68) years. Based on the Cronbach alpha coefficient, the internal coherence of the QPS in French was 0.89 for women (QPS-F) and 0.71 for men (QPS-H), indicating high reliability. For QPS-F, the bivariate Pearson correlation coefficient indicated good convergence for desire and satisfaction, and average convergence for orgasm, pain, and arousal excitability. For QPS-H, the convergence was good for desire, pleasure, and ejaculation.</p><p><strong>Conclusion: </strong>The French versions of the SCS-W/M scales, namely QPS-F and QPS-H, are reliable and validated tools compared with the reference questionnaires, FSFI and IIEF-15, respectively. The QPS-F/H are useful tools for brief, simple, and accurate screening and assessment of sexual complaints. They provide supportive information for clinicians who are less familiar with the clinical significance of sexual complaints and hence can be helpful to achieve more adapted care. These scales are adapted, but not specific, to MS. They could be used in other pathologies and the general population.</p>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142473657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Migraine treatment: Position paper of the French Headache Society.","authors":"X Moisset, G Demarquay, S de Gaalon, C Roos, A Donnet, P Giraud, E Guégan-Massardier, C Lucas, J Mawet, D Valade, V Corand, C Gollion, N Moreau, L Grangeon, M Lantéri-Minet, A Ducros","doi":"10.1016/j.neurol.2024.09.008","DOIUrl":"https://doi.org/10.1016/j.neurol.2024.09.008","url":null,"abstract":"<p><p>The French migraine management recommendations were published in 2021. However, in the last three years, new data have come to light and new drugs have been approved (eptinezumab, rimegepant and atogepant) by the European Medicines Agency that require us to take a position on their use and to update certain elements of the recommendations. The first important message concerns the position of the French Headache Society on the use of preventive treatments (monoclonal antibodies and gepants) targeting the calcitonin gene-related peptide (CGRP) pathway. In terms of efficacy and safety, and as suggested by other national headache societies, these treatments can be offered as first-line treatment, although the scope defined by the French national health authority for possible reimbursement is limited to patients with severe migraine, at least eight headache days per month and for whom two previous preventive treatments have failed. Another important change concerns the position of topiramate as a preventive treatment for migraine in women of childbearing age. This treatment has been proposed as a first-line treatment for chronic migraine. However, recent pharmacovigilance data have highlighted a potential adverse effect on neurodevelopment in children exposed in utero. As a result, this treatment is formally contraindicated during pregnancy and must be used with extreme caution in women of childbearing age (effective contraception, no therapeutic alternative available and annual follow-up as with valproate). It can therefore no longer be offered as first-line treatment for women of childbearing age.</p>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142473658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}