Revue neurologiquePub Date : 2025-10-01Epub Date: 2025-09-03DOI: 10.1016/j.neurol.2025.06.014
M. Renouil , I.I. Grigorashvili-Coin , M.-L. Jacquemont , A. Gelot , V. Trommsdorff , A. Pervillé , F. Darcel , M. Bintner , A. Choumert
{"title":"Clinical presentation and natural history of RAVINE leukoencephalopathy in Reunion Island","authors":"M. Renouil , I.I. Grigorashvili-Coin , M.-L. Jacquemont , A. Gelot , V. Trommsdorff , A. Pervillé , F. Darcel , M. Bintner , A. Choumert","doi":"10.1016/j.neurol.2025.06.014","DOIUrl":"10.1016/j.neurol.2025.06.014","url":null,"abstract":"<div><h3>Introduction</h3><div>RAVINE leukoencephalopathy (RLE) is a hereditary autosomal recessive disease characterized by typical clinical and radiological signs that has so far been observed only in patients of Reunionese origin. The term RAVINE is a French acronym for the main clinical features of the disease: <em>Réunion, Anorexie, Vomissements Incoercibles, signes NEurologiques</em> (Reunion, Anorexia, Intractable Vomiting, NEurological signs). Patients with RLE carry the IVS1-1778A>G mutation of the <em>SLC7A2</em> gene in the homozygous state. Here we present the first complete clinical description and natural history of RLE.</div></div><div><h3>Material and methods</h3><div>The medical records of all patients born to Reunionese parents and presenting with suspected RLE were reviewed. The diagnosis of RLE was confirmed by detection of the homozygous mutation IVS1-1178A>G of the <em>SLC7A2</em> gene. The clinical and paraclinical data of patients with genetically confirmed RLE were retrospectively analyzed to determine the clinical presentation and natural history of the disease.</div></div><div><h3>Results</h3><div>Our retrospective analysis of the clinical and paraclinical data of 40 patients with genetically confirmed RLE distinguished 3 types of the disease based on the evolution of symptoms. Symptoms were classified into 4 stages of development: stage A, or digestive-like stage, characterized by digestive symptoms and to a lesser extent by neurological symptoms; stage B, or clinically latent stage; stage C, or exacerbation stage, marked by attacks of neurological symptoms; and stage D, or decline stage, characterized by loss of walking ability and progression towards death. Patients with type I RLE (37.5%), or monophasic RLE, experience only the severe stage A. Death occurs before the age of 28<!--> <!-->months in a very narrow time window (23.0<!--> <!-->±<!--> <!-->2.2<!--> <!-->months). Patients with type II RLE (16.7%), or biphasic RLE, move directly from stage A to stage D. Patients with type III RLE (45.8%), or multiphasic RLE, experience all 4 stages with varying degrees of symptom severity. This is the most frequent type of RLE. The joint occurrence of central apnea and vocal cord paralysis during stage A is indicative of unfavorable prognosis. Corticosteroid therapy seems to be effective during stage A and in some cases during stage C.</div></div><div><h3>Discussion</h3><div>This retrospective study provides the first complete clinical description and natural history of RLE. Three types of the disease were distinguished based on the evolution of symptoms. The diagnosis of RLE can be established outside of Reunion Island as many Reunionese couples have emigrated to other parts of the world.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 8","pages":"Pages 775-789"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145134922","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}
Revue neurologiquePub Date : 2025-10-01Epub Date: 2025-08-05DOI: 10.1016/j.neurol.2025.07.004
D.M. Chitimus , C. Adam , C. Cauquil , B. Keren , N. Heming , S. Amthor , D. Annane , G. Nicolas , P. Laforêt , C. Métay , C. Lefeuvre
{"title":"Homozygous DNAJB4 deletion revealing myopathy with acute respiratory failure","authors":"D.M. Chitimus , C. Adam , C. Cauquil , B. Keren , N. Heming , S. Amthor , D. Annane , G. Nicolas , P. Laforêt , C. Métay , C. Lefeuvre","doi":"10.1016/j.neurol.2025.07.004","DOIUrl":"10.1016/j.neurol.2025.07.004","url":null,"abstract":"<div><div>Homozygous mutations in the <em>DNAJB4</em> (NM_007034) gene impair HSP40 function, leading to early respiratory failure due to diaphragm involvement and rigid-spine-like characteristics. We describe the case of a 23-year-old male patient who was admitted for acute respiratory failure and motor deficit of the distal upper limbs. Creatine kinase values were elevated (10x upper normal limit), while the pulmonary function tests showed restrictive respiratory syndrome (forced vital capacity at 20% of theoretical values). The deltoid muscle biopsy findings were consistent with myofibrillar myopathy. Genetic analysis by NGS panel sequencing identified a homozygous deletion c.(?_1)_(1014_?)del, p.? (HGVS nomenclature) of the entire <em>DNAJB4</em> gene, confirmed by qPCR. Both healthy parents exhibited the variant at the heterozygous state. Our results demonstrate that homozygous c.(?1)(1014_?)del, p.? deletion in <em>DNAJB4</em> leads to a hereditary myopathy, further underscoring the gene's crucial role in muscle maintenance and function.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 8","pages":"Pages 759-764"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144795263","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}
Revue neurologiquePub Date : 2025-10-01Epub Date: 2025-07-25DOI: 10.1016/j.neurol.2025.07.002
F. Boulin , A.-L. Bédat-Millet , A. Didier-Laurent , F. Louillet , G. Quesney , B. Hébant , B. Sudrié-Arnaud , D. Maltête , M.L. Welter , L. Guyant-Maréchal , L. Zourdani
{"title":"Neurological damage from recreational nitrous oxide use: Two distinct electroclinical profiles in a retrospective cohort","authors":"F. Boulin , A.-L. Bédat-Millet , A. Didier-Laurent , F. Louillet , G. Quesney , B. Hébant , B. Sudrié-Arnaud , D. Maltête , M.L. Welter , L. Guyant-Maréchal , L. Zourdani","doi":"10.1016/j.neurol.2025.07.002","DOIUrl":"10.1016/j.neurol.2025.07.002","url":null,"abstract":"<div><div>The recreational nitrous oxide (N<sub>2</sub>O) use is increasingly recognized as a cause of serious neurological disorders, particularly among young individuals. This retrospective multicenter study aimed to describe the clinical, biological, and electrophysiological features of 41 patients with neurological impairments linked to recreational N<sub>2</sub>O use. Most patients presented myeloneuropathy and motor-dominant, length-dependent, axonal neuropathy involving the lower limbs. Notably, two distinct electroclinical patterns emerged from nerve conduction studies and electromyography: a predominant sensorimotor axonal neuropathy (78.4% of cases) and a pure motor neuropathy (13.5%), both primarily involving the lower limbs. Despite normal serum B12 levels in most cases, elevated homocysteine and methylmalonic acid levels confirmed a functional vitamin B12 deficiency. These findings highlight the characteristic electrophysiological profiles associated with recreational N<sub>2</sub>O use and underscore the importance of early detection and targeted management to prevent long-term disability.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 8","pages":"Pages 742-747"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718280","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}
Revue neurologiquePub Date : 2025-10-01Epub Date: 2025-08-06DOI: 10.1016/j.neurol.2025.07.003
C. Tian , H. Zhou , M. Yuan
{"title":"Hyperoxemia and its impact on in-hospital mortality in intracerebral hemorrhage patients: A retrospective cohort study","authors":"C. Tian , H. Zhou , 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 (PaO<sub>2</sub>) 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 PaO<sub>2</sub> values — 828 patients for final analysis. Based on PaO<sub>2</sub> levels within 24<!--> <!-->hours of admission, patients were divided into three groups: high (><!--> <!-->150<!--> <!-->mmHg), medium (100–150<!--> <!-->mmHg), and low (<<!--> <!-->100<!--> <!-->mmHg). A logistic mixed-effects regression model was used to analyze the relationship between PaO<sub>2</sub> 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 PaO<sub>2</sub> group and high PaO<sub>2</sub> 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 PaO<sub>2</sub>levels and 28-, 60-, or 90-day mortality. Subgroup analysis showed an interaction between in-hospital mortality and PaO<sub>2</sub> level in patients with chronic lung disease (<em>P</em> <!-->=<!--> <!-->0.002). Sensitivity analysis showed that the relationship still existed after excluding extreme PaO<sub>2</sub> 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}
Revue neurologiquePub Date : 2025-10-01Epub Date: 2025-08-14DOI: 10.1016/j.neurol.2025.07.012
J.-B. Brunet de Courssou , L. Gorza , M. Babin , G. Nasser , C. Ancelet , C. Labeyrie , C. Denier , C. Cauquil
{"title":"Transthyretin variant cerebral amyloid angiopathy fulfilling the modified Boston criteria: Retrospective data from the Bicêtre hospital cohort","authors":"J.-B. Brunet de Courssou , L. Gorza , M. Babin , G. Nasser , C. Ancelet , C. Labeyrie , C. Denier , 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}
Revue neurologiquePub Date : 2025-10-01Epub Date: 2025-08-25DOI: 10.1016/j.neurol.2025.06.011
G. Fillebeen , M. Ocampo-Pineda , E. Ruberte , L. Melie-Garcia , J. Kuhle , F.T. Kurz , K.-O. Lovblad , P.H. Lalive , A.M. Lascano
{"title":"Investigating neuroanatomical correlates of neuropathic pain in multiple sclerosis: A pilot comparative study using advanced MRI techniques","authors":"G. Fillebeen , M. Ocampo-Pineda , E. Ruberte , L. Melie-Garcia , J. Kuhle , F.T. Kurz , K.-O. Lovblad , P.H. Lalive , 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}
Revue neurologiquePub Date : 2025-10-01Epub Date: 2025-08-13DOI: 10.1016/j.neurol.2025.07.014
M. Aubignat , S. Potel , G. Carey , V. Schneider , V. Mira , T. Ollivier , S. Grimaldi , T. Wirth , E. Roze , C. Desjardins , behalf of the MAJE study group
{"title":"Training in movement disorders during neurology residency in France: A national survey on educational gaps and future perspectives","authors":"M. Aubignat , S. Potel , G. Carey , V. Schneider , V. Mira , T. Ollivier , S. Grimaldi , T. Wirth , E. Roze , C. Desjardins , 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}
Revue neurologiquePub Date : 2025-10-01Epub Date: 2025-08-13DOI: 10.1016/j.neurol.2025.08.002
J. Ognard , G. El Hajj , S. Ghozy , J.K. Cutsforth-Gregory , A.A. Madhavan , R. Kadirvel , D.F. Kallmes , W. Brinjikji
{"title":"Quality of life in patients with spontaneous intracranial hypotension: A systematic review and meta-analysis","authors":"J. Ognard , G. El Hajj , S. Ghozy , J.K. Cutsforth-Gregory , A.A. Madhavan , R. Kadirvel , D.F. Kallmes , 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}
Revue neurologiquePub Date : 2025-10-01Epub Date: 2025-08-13DOI: 10.1016/j.neurol.2025.07.013
G. Cogan , D. Reguigne , L.D. Do , G. Picard , M. Mongin , B. Degos
{"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}
Revue neurologiquePub Date : 2025-10-01Epub Date: 2025-08-08DOI: 10.1016/j.neurol.2025.07.006
S. Melikova , A. Mammadbayli , A. Guekht
{"title":"Factors predicting seizure control and delivery outcomes in women with epilepsy with planned and unplanned pregnancy","authors":"S. Melikova , A. Mammadbayli , 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> <!--><<!--> <!-->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> <!--><<!--> <!-->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> <!--><<!--> <!-->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}