Revue neurologique最新文献

{"title":"Utility of tissue-based assays to elucidate an autoantibody-negative paraneoplastic syndrome: Lessons from a case report","authors":"G. Cogan , D. Reguigne , L.D. Do , G. Picard , M. Mongin , B. Degos","doi":"10.1016/j.neurol.2025.07.013","DOIUrl":"10.1016/j.neurol.2025.07.013","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 8","pages":"Pages 817-818"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144856184","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":"Factors predicting seizure control and delivery outcomes in women with epilepsy with planned and unplanned pregnancy","authors":"S. Melikova ,&nbsp;A. Mammadbayli ,&nbsp;A. Guekht","doi":"10.1016/j.neurol.2025.07.006","DOIUrl":"10.1016/j.neurol.2025.07.006","url":null,"abstract":"<div><h3>Objective</h3><div>To determine and ascertain factors influencing seizure control and maternal and neonatal outcomes in women with epilepsy (WWE) with planned versus unplanned pregnancies.</div></div><div><h3>Methods</h3><div>One hundred twelve pregnant WWE were prospectively evaluated for over an eight-year period. Patients were subsequently evaluated at 3, 6, and 12 months after delivery and then were followed up by a neurologist at least three years after delivery.</div></div><div><h3>Results</h3><div>The proportion of the patients with increased seizure frequency was higher in focal epilepsy versus generalized epilepsy (<em>P</em> <!-->&lt;<!--> <!-->0.05). The occurrence of seizures during pregnancy was associated with poor seizure control one year prior to the pregnancy and nonadherence to treatment (<em>P</em> <!-->&lt;<!--> <!-->0.0001). Structural brain abnormalities were associated with a higher risk of seizures during pregnancy (<em>P</em> <!-->=<!--> <!-->0.03). Women with seizures during pregnancy (<em>P</em> <!-->=<!--> <!-->0.0069) and with non-adherence to antiseizure medication (ASM) treatment had a higher rate of cesarean section (<em>P</em> <!-->=<!--> <!-->0.0069 and <em>P</em> <!-->&lt;<!--> <!-->0.05, respectively). The rates of adverse delivery outcomes were not higher in women with planned pregnancies compared to women with unplanned pregnancies. However, offspring of mothers with unplanned pregnancies and nonadherence to treatment were at higher risk of an Apgar score at 5<!--> <!-->minutes<!--> <!-->≤<!--> <!-->7 compared with infants of planned pregnancies (<em>P</em> <!-->=<!--> <!-->0.02 and <em>P</em> <!-->=<!--> <!-->0.0001, respectively).</div></div><div><h3>Conclusion</h3><div>Seizure control prior to pregnancy, epilepsy type, adherence to ASM therapy, and pregnancy planning are potential factors influencing both seizure control and delivery outcomes in WWE. Our findings imply that systematic preconception counseling is crucial to preventing seizure deterioration in pregnancy and reducing the maternal and fetal complications.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 8","pages":"Pages 790-800"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144812283","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":"Climate-related challenges to brain health: A European perspective review","authors":"J. Reis ,&nbsp;A. Buguet ,&nbsp;Z. Tulek ,&nbsp;A.-M. Landtblom ,&nbsp;M.W. Radomski ,&nbsp;Ş. Öztürk ,&nbsp;M. Pugliatti ,&nbsp;U. Kallweit ,&nbsp;P.S. Spencer","doi":"10.1016/j.neurol.2025.07.010","DOIUrl":"10.1016/j.neurol.2025.07.010","url":null,"abstract":"<div><div>In this paper, we provide a brief overview on the assessment of the numerous effects of climate change on human health, with particular emphasis on brain health. After reviewing the epidemiological data concerning neuro-psychiatric mortality and morbidity, we will examine the known effects of global warming in a European context. We will consider respectively, neurological diseases (epilepsy, migraine, stroke, sleep, neurodegenerative and neuroinfectious disorders), neurological involvement of climate-change induced health conditions, neuro-psychological aspects (post-traumatic stress and sleep disorders, eco-anxiety) and emerging risks for the brain (toxins and infections). We suggest some underlying mechanisms impacting the brain health. Given the paucity of available data, we call for increased research attention to the adverse effects of climate change. This perspective is intended to support a higher degree of preparedness, the development of improved preventive measures, and the promotion of targeted education for health professionals.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 8","pages":"Pages 713-724"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144856181","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":"Literature review: CAR T-cell therapy as a promising immunotherapeutic approach for medulloblastoma","authors":"C. Eksteen ,&nbsp;J. Riedemann ,&nbsp;H. Johnson ,&nbsp;A.-M. Engelbrecht","doi":"10.1016/j.neurol.2025.07.005","DOIUrl":"10.1016/j.neurol.2025.07.005","url":null,"abstract":"<div><div>Medulloblastoma (MB) accounts for approximately 20–25% of all childhood brain tumours and 63% of intracranial embryonic tumours, with an annual incidence of around 5 cases per million in the paediatric population. This high-grade neuroepithelial tumour of the posterior fossa can develop at any age during childhood, adolescence and even adulthood, often spreading via cerebrospinal fluid. While most MB cases are sporadic, they can be associated with genetic predisposition syndromes. Although these genetic mutations present potential therapeutic targets, the limited number of mutations and few existing therapies aimed at these neoantigens pose significant challenges. Despite aggressive multimodal treatment approaches, approximately 30% of patients ultimately succumb to MB, and survivors frequently face long-term side effects that severely impact their quality of life. MB harbours unique molecular factors, necessitating careful consideration of therapeutic targets such as the blood-brain barrier, tumour microenvironment, and the differing responses of cancer stem cells versus bulk tumour tissue. Conventional treatment typically involves maximal safe resection, risk-adapted chemotherapy, and/or radiation craniospinal irradiation. While there is general agreement on the benefits of chemotherapy for MB patients, adverse side effects remain prevalent, underscoring the need for alternative therapeutic strategies. Given the heterogeneous nature of MBs and the lack of salvage treatment, immunotherapy has emerged as a promising novel treatment avenue. This personalized approach aims to enhance specificity and potentially reduce side effects. Among these innovative methods, adoptive cell therapy, particularly chimeric antigen receptor T (CAR T) cell therapy, shows great promise. This review will explore the potential of CAR T-cell therapies in targeting MB, building on their successful application in other solid tumours.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 8","pages":"Pages 703-712"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144789872","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":"Autosomal dominant distal myopathy due to p.Ser85Cys mutation in the MATR3 gene: Novel case series and literature review","authors":"D.M. Chitimus ,&nbsp;N. Venturelli ,&nbsp;C. Lefeuvre ,&nbsp;C. Métay ,&nbsp;G. Nicolas ,&nbsp;R.-Y. Carlier ,&nbsp;P. Laforêt ,&nbsp;C. Guémy","doi":"10.1016/j.neurol.2025.04.011","DOIUrl":"10.1016/j.neurol.2025.04.011","url":null,"abstract":"<div><h3>Introduction</h3><div><span><span>Matrin-3 autosomal dominant </span>myopathy, most commonly caused by a Ser85Cys (S85C) </span>missense mutation<span>, is a rare distal myopathy, presenting a heterogeneous phenotype.</span></div></div><div><h3>Methods</h3><div>We report the clinical, physiological, radiological, and histological features of the first Portuguese patients diagnosed with p.Ser85Cys <em>MATR3</em><span>-related myopathy using a specific gene panel dedicated to “distal myopathies”. Additionally, a narrative review of the literature was performed to contextualize our findings within the broader landscape of </span><em>MATR3</em>-related pathologies.</div></div><div><h3>Results</h3><div><span><span><span><span>Our case series describes the clinical findings of three patients diagnosed and followed in our center. The first patient was a 57-year-old male presenting with lower limb weakness, followed by loss of muscle force for fine motor gestures in the distal upper limb. Neurological examination revealed important </span>muscle atrophy<span><span> of the distal limbs and symmetrical motor deficit. The second patient, the brother of the aforementioned subject, was a 54-year-old male with similar symptoms associated with dysphagia and </span>dysphonia. The third patient was a 58-year-old female, unrelated to the previous patients, presenting with distal weakness in the upper limbs and severe Achillean contractures. All three patients were investigated using needle </span></span>electromyography<span><span> and whole-body magnetic resonance imaging that disclosed a fatty infiltration pattern in the gastrocnemius, soleus, and </span>tibialis anterior muscles<span><span>. A muscle biopsy was performed solely for one patient and revealed rimmed </span>vacuoles, consistent with previous reports. </span></span></span>Genetic analysis found the same mutation in all three cases: c.254C&gt;G, p.Ser85Cys in the </span><em>MATR3</em> gene. The literature review included nine articles reporting families diagnosed with the p.Ser85Cys mutation in the <em>MATR3</em><span> gene, and the main phenotypes associated with this genetic variant.</span></div></div><div><h3>Conclusion</h3><div>Despite being a rare myopathy, with only a few cases reported, <em>MATR3</em><span> gene mutations should be considered in patients with distal myopathy and rimmed vacuoles on muscle biopsy.</span></div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 7","pages":"Pages 608-614"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144187810","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 management in France: Practices of general practitioners and neurologists","authors":"C. Lucas ,&nbsp;V. Raclot ,&nbsp;M. Gugenheim ,&nbsp;H. Lefebvre ,&nbsp;B. Braithwaite ,&nbsp;A. Ducros","doi":"10.1016/j.neurol.2025.06.006","DOIUrl":"10.1016/j.neurol.2025.06.006","url":null,"abstract":"<div><h3>Background</h3><div>In 2024, despite updated French guidelines, migraine remains underdiagnosed and undertreated. We conducted a comprehensive survey to evaluate the management of migraine patients by French general practitioners (GPs) and neurologists, and to identify factors linked to low prescription rates of recommended treatments.</div></div><div><h3>Methods</h3><div>A total of 320 GPs and 215 neurologists practicing in France were analyzed after completing an online questionnaire (between June and October 2023) regarding their prescribing behaviors and influencing factors, whose potential associations were analyzed statistically.</div></div><div><h3>Results</h3><div>GPs most commonly prescribe triptans (71.6%) and non-steroidal anti-inflammatory drugs (NSAIDs, 66.6%) for acute migraine treatment, and propranolol (71.6%) as prophylaxis. Lower prescribing rates were associated with shorter practice duration, negative perceptions of risk-benefit and lack of recent migraine training. Conversely, recent migraine training significantly reduced low prescription rates of prophylactic treatments. Neurologists frequently prescribe triptans (93.5%) and NSAIDs (89.3%) for acute treatment, as well as propranolol (76.3%) and amitriptyline (61.4%) as prophylaxis. The prescription of newer treatments like calcitonin gene-related peptide monoclonal antibodies is limited, with only 7.0% of respondents frequently using them.</div></div><div><h3>Conclusion</h3><div>While GPs and neurologists often use recommended acute treatments, prophylactic and newer therapies are less commonly prescribed, despite recently updated French guidelines on migraine management.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 7","pages":"Pages 652-666"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144668265","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":"Evaluation of choroidal thickness changes in patients with migraine using optical coherence tomography","authors":"M. Rekik ,&nbsp;Y. Walha ,&nbsp;K.S. Moalla ,&nbsp;S. Kammoun ,&nbsp;C. Mhiri ,&nbsp;M. Dammak ,&nbsp;A. Trigui","doi":"10.1016/j.neurol.2025.06.004","DOIUrl":"10.1016/j.neurol.2025.06.004","url":null,"abstract":"<div><h3>Introduction</h3><div>Optical coherence tomography (OCT) has enabled the study of ocular impairments associated with certain neurological pathologies, such as migraine. This common condition represents a risk factor for ocular ischemic complications. We investigated changes in choroidal thickness (CT) in migraine patients with and without aura (MWA and MWoA respectively) compared to healthy controls using OCT and identified factors influencing the occurrence of these anomalies in migraine.</div></div><div><h3>Methods</h3><div>This was a cross-sectional case-control study including migraine patients and control subjects. All patients and controls underwent a complete ophthalmological examination and CT measurements using a spectral domain-OCT device (DRI OCT Triton; Topcon Corp, Japan). The duration of migraine, the frequency and duration of migraine attacks, the migraine disability assessment (MIDAS) and migraine severity scale (MIGSEV) questionnaire scores were recorded.</div></div><div><h3>Results</h3><div>One hundred and twenty eyes from 60 patients (60 eyes in the MWoA group and 60 eyes in the MWA group) were included. The control group included 30 age- and gender-matched healthy participants (60 eyes). OCT revealed that CT was significantly reduced in MWoA and MWA groups compared with the control group and in the MWA group compared to MWoA group. The duration of migraine and attacks as well as the disease severity were correlated with CT. Multiregression analysis showed that disease severity was the main determinant of CT.</div></div><div><h3>Conclusion</h3><div>Our study highlights the significant impact of both types of migraine on choroidal structure. OCT proves to be promising in understanding migraine pathophysiology and potentially serves as a valuable biomarker for diagnosis and monitoring.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 7","pages":"Pages 638-643"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718279","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 ,&nbsp;J. Paurise ,&nbsp;A. Delval ,&nbsp;G. Hernu ,&nbsp;C. Grenenko ,&nbsp;A. Masurel ,&nbsp;L. Hery ,&nbsp;P. Berquin ,&nbsp;A.G. Le Moing","doi":"10.1016/j.neurol.2025.05.004","DOIUrl":"10.1016/j.neurol.2025.05.004","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 7","pages":"Pages 691-692"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","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":"Comment on “Postural balance and visual dependence in patients with demyelinating neuropathies differ between acquired and hereditary etiologies”","authors":"S.M. Sheriff ,&nbsp;M. Hasan ,&nbsp;M.H. Chola","doi":"10.1016/j.neurol.2025.06.003","DOIUrl":"10.1016/j.neurol.2025.06.003","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 7","pages":"Pages 695-696"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144567775","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":"Description of peripheral nervous system involvement in wild-type transthyretin amyloidosis: A clinical and electrophysiological study","authors":"R. Barriol,&nbsp;B. Lemarchant,&nbsp;F. Cassim,&nbsp;J.-B. Davion,&nbsp;L. Defebvre,&nbsp;J.-B. Gibier,&nbsp;AmyloLille ,&nbsp;N. Lamblin,&nbsp;C. Tard","doi":"10.1016/j.neurol.2025.06.007","DOIUrl":"10.1016/j.neurol.2025.06.007","url":null,"abstract":"<div><h3>Introduction</h3><div>Wild-type transthyretin amyloidosis (ATTRwt) is not clearly known to be associated with peripheral neurological complications. The aim of our study was to characterize neurological involvement in ATTRwt, as well as its evolution over time, using clinical and electrodiagnostic (EDX) data.</div></div><div><h3>Methods</h3><div>We prospectively included patients diagnosed with ATTRwt who were addressed by cardiologists. All patients underwent neurological evaluation, including examination (neuropathy impairment score) and an EDX study including electrochemical skin conductance and/or sympathetic skin response testing. Motor, sensory, and small fiber composite sum scores were calculated based on the EDX data. Clinical and EDX scores were then reassessed during the follow-up period.</div></div><div><h3>Results</h3><div>Fifty-two patients were included, 94% of whom were treated with tafamidis. At inclusion 98% of patients presented peripheral nerve involvement at EDX, the most common being carpal tunnel syndrome (88%), polyneuropathy (67%), and ulnar tunnel syndrome (21%). Twenty-nine patients were reevaluated and mean follow-up was 16.7<!--> <!-->months with no significant change of clinical or neurophysiological data.</div></div><div><h3>Discussion</h3><div>In our cohort, a large majority of ATTRwt patients showed peripheral nerve involvement, generally expressed as the combination of different neurological syndromes (entrapment syndromes, large and/or small fiber polyneuropathy, radicular impairment). Polyneuropathy in ATTRwt seemed stable over our follow-up period. Clinical and EDX screening should be conducted in ATTRwt patients with symptoms suggestive of neurological involvement in order not to oversee these frequent complications which could affect therapeutic decision making.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 7","pages":"Pages 667-673"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144650287","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}