Revue neurologique最新文献

{"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}

{"title":"Clinical trial knowledge in families of children with epilepsy. A survey from a French Center for Rare Epilepsies","authors":"B. Semal ,&nbsp;S. Höhn ,&nbsp;V. Agostini ,&nbsp;B. Dozières-Puyravel ,&nbsp;S. Auvin","doi":"10.1016/j.neurol.2025.05.003","DOIUrl":"10.1016/j.neurol.2025.05.003","url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 7","pages":"Pages 632-637"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","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":"French guidelines for the diagnosis and management of MOG antibody-associated disease","authors":"L. Giorgi ,&nbsp;R. Marignier ,&nbsp;J. Pique ,&nbsp;H. Maurey ,&nbsp;C. Papeix ,&nbsp;J. Ciron ,&nbsp;N. Collongues ,&nbsp;E. Cheuret ,&nbsp;H. Zephir ,&nbsp;P. Meyer ,&nbsp;S. Vukusic ,&nbsp;M. Doret-Dion ,&nbsp;M.-T. Abi Warde ,&nbsp;A.-L. Poulat ,&nbsp;E. Barreau ,&nbsp;R. Deschamps ,&nbsp;B. Audoin ,&nbsp;I. Mannes ,&nbsp;E. Yver ,&nbsp;C. Lattaud ,&nbsp;K. Deiva","doi":"10.1016/j.neurol.2025.04.012","DOIUrl":"10.1016/j.neurol.2025.04.012","url":null,"abstract":"<div><div>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).</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 7","pages":"Pages 597-607"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","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":"First case of cervical schwannoma and polyneuropathy in a 48-year-old patient with Claes-Jensen syndrome (KDM5C)","authors":"L. Lebrun ,&nbsp;M.-C. Duray ,&nbsp;H. Vincart","doi":"10.1016/j.neurol.2025.06.001","DOIUrl":"10.1016/j.neurol.2025.06.001","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 7","pages":"Pages 692-693"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","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":"Can a virtual reality tool detect minor executive functions impairment in patients with multiple sclerosis?","authors":"R. Delsanti ,&nbsp;E. Le Mercier ,&nbsp;A. Briant ,&nbsp;N. Derache ,&nbsp;C. Arnaud ,&nbsp;P. Branger ,&nbsp;G. Defer","doi":"10.1016/j.neurol.2025.06.009","DOIUrl":"10.1016/j.neurol.2025.06.009","url":null,"abstract":"<div><h3>Introduction</h3><div>Traditional neuropsychological tests do not always identify executive disorders in patients with multiple sclerosis (MS), despite their complaints. Many studies suggest that virtual reality (VR) may be useful to evaluate cognitive functions as close as possible to patients’ daily activities. We investigated the validity of a VR tool in the assessment of executive impairment in MS patients.</div></div><div><h3>Methods</h3><div>Thirty patients with relapsing-remitting multiple sclerosis (RRMS) and 30 matched healthy controls performed a shopping task using the Virtual Action Planning-Supermarket (VAP-S) which simulates a supermarket environment (main measures: total test duration, distance traveled, incorrect actions, number of stops, duration of stops and time to pay) with a familiarization phase followed by a test phase. In addition, neuropsychological tests assessing executive functions were proposed. Inter-group comparisons were conducted using adapted statistical tests and correlation analyses between the VAP-S and the traditional tests results were performed.</div></div><div><h3>Results</h3><div>No significant difference was observed between the two groups in traditional tests. However, during the VAP-S familiarization phase, RRMS patients performed worse than controls, showing differences in distance traveled (<em>P</em> <!-->=<!--> <!-->0.042), total test duration (<em>P</em> <!-->=<!--> <!-->0.021) and number of stops (<em>P</em> <!-->=<!--> <!-->0.034). In the VAP-S test phase, no difference was found. Correlations were observed between some of the VAP-S scores and traditional tests results in both groups.</div></div><div><h3>Conclusion</h3><div>A VR tool appears to be more effective than traditional tests in detecting mild executive difficulties in MS patients. We noticed a learning effect during the test phase, suggesting that VR could support cognitive rehabilitation and improve daily living.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 7","pages":"Pages 681-690"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708599","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}