Revue neurologique最新文献

{"title":"Hyperoxemia and its impact on in-hospital mortality in intracerebral hemorrhage patients: A retrospective cohort study","authors":"C. Tian ,&nbsp;H. Zhou ,&nbsp;M. Yuan","doi":"10.1016/j.neurol.2025.07.003","DOIUrl":"10.1016/j.neurol.2025.07.003","url":null,"abstract":"<div><h3>Introduction</h3><div>This study aims to explore the relationship between arterial partial pressure of oxygen (PaO₂) and in-hospital mortality in patients admitted for the first time with intracerebral hemorrhage, with emphasis on the effect of hyperoxia on mortality.</div></div><div><h3>Methods</h3><div>We screened the MIMIC IV database for 1985 patients with cerebral hemorrhage admitted for the first time between 2008 and 2019. Exclusions included cases with duplicate records, patients with tumors, aneurysms, traumatic cerebral hemorrhage, cerebral hemorrhage due to blood disorders, and cases missing PaO₂ values — 828 patients for final analysis. Based on PaO₂ levels within 24<!--> <!-->hours of admission, patients were divided into three groups: high (&gt;<!--> <!-->150<!--> <!-->mmHg), medium (100–150<!--> <!-->mmHg), and low (&lt;<!--> <!-->100<!--> <!-->mmHg). A logistic mixed-effects regression model was used to analyze the relationship between PaO₂ and hospital mortality.</div></div><div><h3>Results</h3><div>The overall mortality rate during hospitalization was 37.1%. After adjusting for confounding factors, the mortality risk ratio (OR) of the low PaO₂ group and high PaO₂ group were 1.78 (95%CI: 1.04–3.03, <em>P</em> <!-->=<!--> <!-->0.034) and 2.09 (95%CI: 1.28–3.42, <em>P</em> <!-->=<!--> <!-->0.003), respectively. However, no significant associations were found between PaO₂levels and 28-, 60-, or 90-day mortality. Subgroup analysis showed an interaction between in-hospital mortality and PaO₂ level in patients with chronic lung disease (<em>P</em> <!-->=<!--> <!-->0.002). Sensitivity analysis showed that the relationship still existed after excluding extreme PaO₂ values.</div></div><div><h3>Conclusions</h3><div>Elevated arterial oxygen tension within the first 24<!--> <!-->hours of admission was independently associated with increased in-hospital mortality in patients with intracerebral hemorrhage.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 8","pages":"Pages 748-758"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144800099","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":"Transthyretin variant cerebral amyloid angiopathy fulfilling the modified Boston criteria: Retrospective data from the Bicêtre hospital cohort","authors":"J.-B. Brunet de Courssou ,&nbsp;L. Gorza ,&nbsp;M. Babin ,&nbsp;G. Nasser ,&nbsp;C. Ancelet ,&nbsp;C. Labeyrie ,&nbsp;C. Denier ,&nbsp;C. Cauquil","doi":"10.1016/j.neurol.2025.07.012","DOIUrl":"10.1016/j.neurol.2025.07.012","url":null,"abstract":"<div><h3>Background</h3><div>Hereditary transthyretin amyloidosis (ATTRv) is the most common hereditary amyloidosis, affecting mainly the peripheral nervous system and the heart. Central nervous system (CNS) involvement is regarded as rare, apart in some <em>TTR</em> variants, although leptomeningeal amyloid deposit had been described in the frequent Val30Met variant. Cerebral amyloid angiopathy (CAA) is a neurovascular disease characterized by amyloid deposits in brain vasculature, leading to ischemic and hemorrhagic events. The main cause is sporadic CAA with β-amyloid deposits but hereditary causes are possible.</div></div><div><h3>Methods</h3><div>We analyzed a cohort of ATTRv symptomatic patients treated at Bicêtre university hospital who underwent brain magnetic resonance imaging (MRI) regardless of indication.</div></div><div><h3>Results</h3><div>Twenty out of 64 ATTRv patients (31%) fulfilled radiological criteria of possible or probable CAA (suspected CAA) according to the modified Boston criteria with an unusually high 77% (10/13) frequency of leptomeningeal enhancement. Clinically, suspected CAA patients tended to have more focal central neurological symptoms, seizures and memory complaints than ATTRv patients without those MRI features.</div></div><div><h3>Conclusion</h3><div>ATTRv-related CAA should be considered in case of CAA with suggestive systemic features or familial history, as specific treatments and genetic counseling now exist for ATTRv. Conversely, CNS symptoms and brain MRI abnormalities should be sought in ATTRv patients.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 8","pages":"Pages 801-807"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144859467","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":"Training in movement disorders during neurology residency in France: A national survey on educational gaps and future perspectives","authors":"M. Aubignat ,&nbsp;S. Potel ,&nbsp;G. Carey ,&nbsp;V. Schneider ,&nbsp;V. Mira ,&nbsp;T. Ollivier ,&nbsp;S. Grimaldi ,&nbsp;T. Wirth ,&nbsp;E. Roze ,&nbsp;C. Desjardins ,&nbsp;behalf of the MAJE study group","doi":"10.1016/j.neurol.2025.07.014","DOIUrl":"10.1016/j.neurol.2025.07.014","url":null,"abstract":"<div><div>Movement disorders (MDs) subspecialty is a key discipline in neurology, requiring dedicated expertise and training for accurate diagnosis and management. However, structured data on neurology residency training in this field in France are lacking. This study aims to evaluate the accessibility, quality, and consistency of MDs education among French neurology residents and to identify areas for improvement. A national online survey was conducted from August to November 2024 among neurology residents across France. The questionnaire assessed theoretical and practical exposure to MDs, procedural training, self-reported confidence in managing MDs, and residents’ expectations regarding training. Responses were analyzed descriptively, with comparisons across residency years and hospital types. Data were obtained from 151 neurology residents at 24 university hospitals. MDs training was highly heterogeneous: 47.3% reported receiving ≤<!--> <!-->5<!--> <!-->h of theoretical MDs education, while only 2.7% exceeded 20<!--> <!-->h. Practical exposure was limited, with 25.2% of residents having attended MD consultations under supervision, and only 4% having performed botulinum toxin injections under supervision. Confidence in managing MDs was generally low, particularly for dystonia (60.9% felt unprepared) and Tourette syndrome/tics (79.5% felt unprepared). Residents identified major gaps in structured education, procedural training, and access to mentorship. They advocated for a standardized MDs curriculum, increased supervised practical training, and the development of innovative educational tools. In conclusion, MD training during neurology residency in France is inconsistent, with significant gaps in both theoretical and practical exposure. Standardizing MD education, expanding supervised procedural training, and fostering mentorship programs are essential steps to improve resident skills.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 8","pages":"Pages 808-816"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144856183","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":"Investigating neuroanatomical correlates of neuropathic pain in multiple sclerosis: A pilot comparative study using advanced MRI techniques","authors":"G. Fillebeen ,&nbsp;M. Ocampo-Pineda ,&nbsp;E. Ruberte ,&nbsp;L. Melie-Garcia ,&nbsp;J. Kuhle ,&nbsp;F.T. Kurz ,&nbsp;K.-O. Lovblad ,&nbsp;P.H. Lalive ,&nbsp;A.M. Lascano","doi":"10.1016/j.neurol.2025.06.011","DOIUrl":"10.1016/j.neurol.2025.06.011","url":null,"abstract":"<div><h3>Background</h3><div>Previous studies exploring the anatomical correlates of pain in multiple sclerosis (MS) have relied on structural magnetic resonance imaging (MRI) and descriptive methodologies.</div></div><div><h3>Objective</h3><div>To establish radiological correlates of neuropathic pain in MS patients through the objective segmentation and analysis of brain MRI.</div></div><div><h3>Methods</h3><div>This exploratory pilot study included three distinct groups: MS patients with neuropathic pain (<em>n</em> <!-->=<!--> <!-->8), MS patients without pain (<em>n</em> <!-->=<!--> <!-->11), and individuals with small fiber neuropathy (SFN, <em>n</em> <!-->=<!--> <!-->6). Neuropathic pain was confirmed using laser-evoked potentials (LEPs), ensuring an objective assessment of pain function. All participants underwent brain MRI, with MS patients additionally undergoing spinal MRI. Brain region segmentation was conducted using two advanced automated tools: SAMSEG (Sequence Adaptive Multimodal SEGmentation) and SynthSEG. Pain-related brain regions, including the thalamus, brainstem, basal ganglia, prefrontal cortex, and somatosensory cortex, were analyzed and compared amongst the three groups.</div></div><div><h3>Results</h3><div>The volume of the right pallidum was significantly reduced in MS patients with pain compared to those without pain, as measured by SynthSeg but not with SAMSEG. Individual analysis of regions of interest showed significant results of diffusion tensor imaging analysis in the external capsule, internal capsule, posterior thalamic radiation, and superior longitudinal fasciculus. Quantitative analysis of spinal cord lesions revealed no significant differences between the groups.</div></div><div><h3>Conclusions</h3><div>These findings highlight a potential of advanced neuroimaging techniques to uncover brain-based correlates of neuropathic pain in MS, though further studies with larger sample sizes are warranted for validation.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 8","pages":"Pages 765-774"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144967011","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":"Quality of life in patients with spontaneous intracranial hypotension: A systematic review and meta-analysis","authors":"J. Ognard ,&nbsp;G. El Hajj ,&nbsp;S. Ghozy ,&nbsp;J.K. Cutsforth-Gregory ,&nbsp;A.A. Madhavan ,&nbsp;R. Kadirvel ,&nbsp;D.F. Kallmes ,&nbsp;W. Brinjikji","doi":"10.1016/j.neurol.2025.08.002","DOIUrl":"10.1016/j.neurol.2025.08.002","url":null,"abstract":"<div><h3>Background</h3><div>Not only are diagnosis and management of spontaneous intracranial hypotension (SIH) challenging due to heterogeneous symptoms and limited treatment effectiveness, but SIH's impact on health-related quality of life (HRQoL) is under-documented.</div></div><div><h3>Objectives</h3><div>In this systematic review, we aim to evaluate the assessment of QoL in SIH patients, identify impacted QoL domains, and explore treatment-related changes in QoL with a meta-analysis.</div></div><div><h3>Methods</h3><div>Following PRISMA recommendations, we conducted a systematic literature search using a comprehensive set of keywords related to QoL and SIH. Databases were searched from the inception to July 2025. Studies were included if they provided reports on the quality of life for SIH patients. A meta-analysis using mean difference (MD) of baseline and after-treatment QoL scores was conducted. The risk of bias was assessed using the Newcastle-Ottawa scale.</div></div><div><h3>Results</h3><div>Of 1435 initial publications, 20 studies met the inclusion criteria, representing a total of 1106 patients with SIH. EQ-5D-5L and HIT-6 were the most frequently used tools, with pooled results showing significant improvement post-treatment in perceived health (Visual analog scale score improved from 38.9 to 72.2; MD of 42.4 [95% CI 26.2–58.7]) and headache impact (HIT-6 scores improved from 66.1 to 49.3; MD of 20.1 [95% CI: 14.7–25.6]). Despite treatment, studies reported moderate to severe physical, mental, and social limitations.</div></div><div><h3>Discussion</h3><div>The reporting of QoL is inconsistent and the tools used to assess QoL in SIH patients are heterogenous. While treatment provides help, some symptoms persist and highlight the need for specific QoL assessment, with tools tailored to SIH.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 8","pages":"Pages 725-741"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144856182","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":"Utility of tissue-based assays to elucidate an autoantibody-negative paraneoplastic syndrome: Lessons from a case report","authors":"G. Cogan ,&nbsp;D. Reguigne ,&nbsp;L.D. Do ,&nbsp;G. Picard ,&nbsp;M. Mongin ,&nbsp;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}