Revue neurologique最新文献

{"title":"First case of cervical schwannoma and polyneuropathy in a 48-year-old patient with Claes-Jensen syndrome (KDM5C).","authors":"L Lebrun, M-C Duray, H Vincart","doi":"10.1016/j.neurol.2025.06.001","DOIUrl":"https://doi.org/10.1016/j.neurol.2025.06.001","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144340312","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":"Hemiplegic migraine and MRI sequences: The keys to diagnose a stroke mimic?","authors":"E Diab, J Paurise, A Delval, G Hernu, C Grenenko, A Masurel, L Hery, P Berquin, A G Le Moing","doi":"10.1016/j.neurol.2025.05.004","DOIUrl":"https://doi.org/10.1016/j.neurol.2025.05.004","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144336906","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 guidelines for the diagnostic and management of MOG antibody-associated disease.","authors":"L Giorgi, R Marignier, J Pique, H Maurey, C Papeix, J Ciron, N Collongues, E Cheuret, H Zephir, P Meyer, S Vukusic, M Doret-Dion, M-T Abi Warde, A-L Poulat, E Barreau, R Deschamps, B Audoin, I Mannes, E Yver, C Lattaud, E Maillart, K Deiva","doi":"10.1016/j.neurol.2025.04.012","DOIUrl":"https://doi.org/10.1016/j.neurol.2025.04.012","url":null,"abstract":"<p><p>MOG antibody-associated disease (MOGAD) is a new entity within the spectrum of autoimmune inflammatory diseases of the central nervous system. It is distinct from multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD). Although they share certain clinical characteristics, these 3 diseases differ in terms of their pathophysiology, disease course and response to treatment. MOGAD is a rare disease affecting both adults and children, with a higher frequency in the latter. The clinical presentation of MOGAD varies depending on age: in children under the age of 10, presentations of acute disseminated encephalomyelitis (ADEM) are frequently described, whereas in children over the age of 10 and in adults, unilateral or bilateral optic neuritis or acute myelitis is more often observed. Other, rarer presentations have also been reported, including encephalitic presentations with seizures. Radiologic findings can sometimes help guide the diagnosis: extensive anterior optic nerve involvement, perineuritis, extensive lesions of the spinal cord with involvement of the conus medullaris, and involvement of the pons, for example. Diagnosis is confirmed by measuring anti-MOG antibodies in the serum. In case of diagnostic doubt, the result must be confirmed in a reference laboratory (currently available in Lyon and Le Kremlin Bicêtre in France). The disease course is usually monophasic in children, but relapses are possible. In adults, the frequency of relapses seems higher than in children, estimated at more than 40% after 5 years. Visual, bladder/sphincter, cognitive and, to a lesser extent, motor sequelae may occur, but much less frequently than in NMOSD. In children and adults, attacks are treated with high-dose IV corticosteroids, which are often very effective, followed by an oral taper. In certain situations, long-term immunoactive therapy may be proposed, particularly when a relapse occurs, after discussion with a reference or expert center for Inflammatory diseases of the central nervous system. Long-term follow-up is proposed at the reference/expert center at least once a year. In between these appointments, follow-up with the referring pediatric neurologist, pediatrician, treating physician or referring neurologist is carried out every 6 months. It is important to check for the occurrence of a new attack and the onset of complications but also, in the case of long-term therapy, adherence to and tolerance of the treatment. Multidisciplinary management is essential and involves a variety of healthcare professionals (neurologist or pediatric neurologist, ophthalmologist, physiatrist, physiotherapist, speech therapist, occupational therapist, psychologist and social worker).</p>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144267228","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":"Clinical trial knowledge in families of children with epilepsy. A survey from a French Center for Rare Epilepsies.","authors":"B Semal, S Höhn, V Agostini, B Dozières-Puyravel, S Auvin","doi":"10.1016/j.neurol.2025.05.003","DOIUrl":"https://doi.org/10.1016/j.neurol.2025.05.003","url":null,"abstract":"<p><p>Clinical trials are essential to the development of innovative treatments. Many patients and families have limited knowledge of biomedical research. This study aimed to determine whether families of children with epilepsy were interested in learning more about biomedical research, what specific trial-related topics they wanted to know more about, and how they preferred to receive this information. An online survey was emailed to 29 partner associations and shared on the social networks of our Rare Epilepsy Reference Center. Of the 152 respondents, 63% knew about biomedical research, and 99% expressed interest in learning more. Topics of interest included how new anti-seizure medications are developed, the stages involved in drug approval, using placebos, randomization, and assessing treatment efficacy and side effects. Side effects and treatment efficacy attracted the most interest. While awareness of clinical trials is improving, there is still a need for a better understanding of critical concepts such as placebos, safety, and randomization. Social media, educational videos, and written resources could be practical tools for increasing knowledge and participation in clinical trials among patients with epilepsy and their families.</p>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144249436","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":"Data linkage between the French multiple sclerosis cohort (OFSEP) and the French national health insurance database (SNDS).","authors":"E Leray, E Drezen, R Casey, S Vukusic","doi":"10.1016/j.neurol.2025.05.002","DOIUrl":"https://doi.org/10.1016/j.neurol.2025.05.002","url":null,"abstract":"<p><strong>Background: </strong>Linking disease registries to nationwide healthcare administrative databases increases the research opportunities. Recent guidelines emphasize the need of transparency in this process.</p><p><strong>Objective: </strong>Our aims were to describe the process of record linkage between the French multiple sclerosis (MS) cohort (OFSEP) and the national health insurance database (SNDS) and to evaluate the linkage quality.</p><p><strong>Methods: </strong>As no unique identifier was available in the two databases, the OFSEP-SNDS data linkage was performed by indirect matching using the following sixteen patient variables to create a unique key: sex, dates of birth and death, of visits to a neurologist, of MS-related hospitalizations, of MRI, and use of disease-modifying therapies. Three indicators were computed to assess the linkage quality.</p><p><strong>Results: </strong>Among the 52,034 eligible patients in the OFSEP registry, 42,603 (81.9%) were matched with patients in the SNDS database, with good overall quality (robustness=3.19; this is the number of linkage variables that can be removed without losing the uniqueness of the linked pair; 87.8% of common information). Comparison of the linked and unlinked populations revealed no major selection bias regarding age and sex distributions.</p><p><strong>Conclusion: </strong>The successful linkage of more than 40,000 patients with MS broadens the research perspectives by allowing access to a wide range of clinical and administrative data (e.g., comorbidities, care pathways) over a long mean disease duration (> 15 years).</p>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144249437","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":"MRI features of pleomorphic xanthoastrocytoma defined by DNA methylation profile.","authors":"R Fawaz, O Aboubakr, F N El Sissy, B Mathon, B M Oumoussa, B Barka, E Mandonnet, D Leclercq, M Touat, K Hoang-Xuan, H Adle-Biassette, F Bielle, L Nichelli","doi":"10.1016/j.neurol.2025.04.009","DOIUrl":"https://doi.org/10.1016/j.neurol.2025.04.009","url":null,"abstract":"<p><strong>Introduction: </strong>Pleomorphic xanthoastrocytomas (PXA) are primary brain tumors challenging to diagnose due to their morphological and molecular overlap with other tumors. While DNA methylation profiling (MP) aids pathological classification, it alone may be inconclusive. Magnetic resonance imaging (MRI), routinely performed for lesion assessment, provides valuable information. Combining histo-molecular features, MP, and MRI is thus beneficial, particularly in cases of diagnostic uncertainty. In this study, we retrospectively analyzed MRI features of methylation-confirmed PXAs (mcPXAs) versus tumors with PXA-like histology using WHO 2021 criteria.</p><p><strong>Methods: </strong>We included 29 adult patients with tumors displaying PXA-suggestive histology, completed MP, and preoperative MRI. Tumors were classified into three groups: mcPXA, histological PXA with methylation-confirmed glioblastoma (mcGBM), and other MP-confirmed diagnoses (mcMimic). Clinical and molecular data were recorded.</p><p><strong>Results: </strong>All tumors were supratentorial with heterogeneous enhancement. The mcGBM group showed significantly more peritumoral edema and hypercellularity than mcPXA (P=0.002 and P=0.023). No significant differences were found in tumor location, cystic components, or hemorrhagic content. The BRAF^V600E mutation appeared in 89% of mcPXA, 8% of mcGBM, and 29% of mcMimic cases (P<0.05). Our composite MRI and molecular score for PXA diagnosis achieved an area under the curve of 0.95, with 95% specificity and 77% sensitivity.</p><p><strong>Conclusion: </strong>In cases of histological uncertainty, lack of peritumoral edema and hypercellularity supports a PXA epigenetic profile. Our specific score could aid in challenging cases, though further validation in larger cohorts is warranted.</p>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235026","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":"Granulomatous angiitis of the central nervous system (GANS) associated with Hodgkin lymphoma","authors":"L. Jeantin ,&nbsp;A. Laurenge ,&nbsp;E. Lefevre ,&nbsp;K. Mokhtari ,&nbsp;M. Le Garff-Tavernier ,&nbsp;A. Hesters ,&nbsp;S. Ghazanfari ,&nbsp;A. Méneret ,&nbsp;D. Psimaras ,&nbsp;K. Hoang-Xuan ,&nbsp;M. Ouzegdouh ,&nbsp;M. Touat","doi":"10.1016/j.neurol.2025.04.005","DOIUrl":"10.1016/j.neurol.2025.04.005","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 6","pages":"Pages 587-590"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144029641","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":"Epileptic seizures recorded with microelectrodes: A persistent multiscale gap between neuronal activity, micro-, and macro-LFP?","authors":"P. Calvat ,&nbsp;E.J. Barbeau ,&nbsp;A. Darves-Bornoz ,&nbsp;M. Denuelle ,&nbsp;L. Valton ,&nbsp;J. Curot","doi":"10.1016/j.neurol.2025.01.414","DOIUrl":"10.1016/j.neurol.2025.01.414","url":null,"abstract":"<div><div>The cascade of events that occur in the human brain, from neurons to local circuits and global network dynamics during epileptic seizures, is barely understood. Ictogenesis in humans has been described in relation to electrophysiological concepts based on local field potentials (LFP) recorded by standard macroelectrodes (macro-LFP). Microelectrodes, however, record at the cellular scale. Despite over four decades of such recordings in patients with epilepsy, there remains a significant gap between these scales. This narrative review explores the contribution of microelectrode recordings of seizures in humans. By focusing closely on neuronal activity, researchers often overlook that microelectrodes also allow recording LFP at the micro-electrode level (micro-LFP). Above all, there is a gap between local circuits recorded at the micro-LFP level and large-scale network dynamics at the macro-LFP level, with little theoretical work to reconcile these two scales. Consequently, to date, analyses of seizures have been coarse, incomplete, and based on small numbers of patients. In particular, most multiscale seizure analyses have not included all three levels of scales (single units, micro-LFP, and macro-LFP) simultaneously, but doing so is key to providing a synthesis of ictal genesis. This review highlights the various challenges that face researchers using microelectrodes: (1) carrying out a systematic descriptive and quantitative analysis of the micro-LFP seizure signal, (2) improving the spatial correspondence between micro- and macroelectrodes in order to achieve better comparability between the two scales, (3) improving brain sampling thanks to specific devices, in particular deep electrodes with microwires, (4) reporting the reference electrode used in each study and how it may impact the results, (5) long duration of recordings over hours and days, and (6) shared simultaneous micro-LFP/macro-LFP databases.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 6","pages":"Pages 503-524"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144010117","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":"An outpatient TIA clinic works! Insights from the creation and the first year of Bordeaux TIA clinic","authors":"P. Briau,&nbsp;C. Morando,&nbsp;S. Olindo,&nbsp;F. Rouanet,&nbsp;I. Sibon,&nbsp;P. Renou","doi":"10.1016/j.neurol.2025.03.015","DOIUrl":"10.1016/j.neurol.2025.03.015","url":null,"abstract":"<div><h3>Background</h3><div>While the benefits of urgent management of transient ischemic attacks (TIA) are now well established, there is still no consensus on the best care pathway for TIA, particularly regarding hospitalization in an intensive care stroke unit compared to outpatient management in a TIA clinic. The objective of this study was to report the different steps required for the development of a TIA clinic addressing both the healthcare needs as well as architectural and economic constraints of a hospital, then to describe the results of the first year of activity of our TIA clinic.</div></div><div><h3>Method</h3><div>First, we described the various steps of the development of our TIA clinic and its operational modalities. Then we performed a cohort study of all patients with suspected TIA admitted in the outpatient clinic at Bordeaux University Hospital between November 7, 2022, until November 7, 2023. We analyzed data including characteristics of the population, diagnoses, treatments, hospitalization rate and length of stay. To assess the risk reduction of stroke occurrence three months after TIA, we compared the stroke rate predicted by the ABCD₂ score to the observed stroke rate of our population at three months.</div></div><div><h3>Rsults</h3><div>A total of 507 patients were admitted to the TIA clinic during the first year with a median length of stay of 5<!--> <!-->hours. Compared to the period when TIA were hospitalized in our intensive care stroke unit, this represents a tenfold increase in the rate of TIA patients admitted in our stroke unit with a tenfold reduction in the length of hospital stay. Among patients, 13.4% had a minor stroke, 34.5% had a probable TIA, 25.4% had a possible TIA, 26.6% had a differential diagnosis and 11% were subsequently hospitalized in the intensive care stroke unit. Most patients were referred by general practitioners. Our TIA clinic demonstrated a 68% reduction in the risk of stroke after TIA with an observed stroke rate of 0.98% after 3 months compared to the 3.1% predicted by the ABCD2 score.</div></div><div><h3>Conclusion</h3><div>The opening of a TIA clinic in Bordeaux metropole has significantly improved the management of TIA patients, which was previously inadequate in our territory. This study demonstrated that a hybrid model operating as an outpatient day hospital is effective as it successfully reduced the stroke rate after TIA, while increasing the capacity of TIAs admission to a stroke unit and shortening hospital stays.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 6","pages":"Pages 579-586"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144010113","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 safety of COVID-19 vaccines in a large French series of patients with neuromuscular conditions and the impacts of vaccination on their daily lives","authors":"M. Barnay ,&nbsp;A. Foubert-Samier ,&nbsp;M.-H. Violleau ,&nbsp;E. Campana-Salort ,&nbsp;P. Cintas ,&nbsp;P. Laforêt ,&nbsp;S. Mathis ,&nbsp;Y. Péréon ,&nbsp;C. Tard ,&nbsp;F. Sirma ,&nbsp;S. Attarian ,&nbsp;G. Solé","doi":"10.1016/j.neurol.2025.04.007","DOIUrl":"10.1016/j.neurol.2025.04.007","url":null,"abstract":"<div><div>This prospective observational study assessed how well patients with neuromuscular disorders (NMDs) tolerated coronavirus disease 2019 (COVID-19) vaccination, and the safety thereof. Patients treated in 55 expert centres of the French NMD (FILNEMUS) network were asked to complete online questionnaires that explored COVID-19 vaccine injection status, adverse effects (AEs), and the impacts thereof on the activities of daily living (ADLs). All patients were followed-up for 12 months. We enrolled 1,020 patients with various NMDs; 38% with myopathy, 33% peripheral neuropathy, 20% myasthenia and 5% spinal muscular atrophy (SMA). Of all patients, 18% were on immune system-modifying therapies. A total of 1,865 vaccine injections were given. Of all patients, 70.4% lacked AEs impacting ADLs (they experienced no AEs or minor AEs), 20.4% reported AEs compromising ADLs, 9% AEs preventing ADLs and 0.2% AEs that required hospitalisation. We found no association between AEs impacting ADLs and the NMD type, physiopathology, or treatment. However, correlations were found between the development of AEs that impacted ADLs and both the modified Rankin score at baseline and vaccination with mRNA-1273 (Moderna). The AE types and frequencies were similar to those of the general population. Our study is reassuring; COVID-19 vaccination is safe for patients with NMDs including those with immune system-mediated diseases and those who are receiving immune system-modifying therapies. Patients with severe disabilities were at an increased risk of AEs that impacted ADLs but this must be weighed against the fact that they are also at increased risk of severe COVID-19 infection. Our mRNA-1273 (Moderna) vaccine findings require confirmation; few patients received this vaccine compared to those injected with BNT162b2 (Pfizer-BioNTech).</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 6","pages":"Pages 571-578"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144044301","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}