Pub Date : 2025-04-04DOI: 10.1016/j.neurol.2025.03.003
R Checri, S Baldassari, S Baulac
Brain somatic mutations are increasingly recognized as major drivers of focal epilepsy particularly in malformations of cortical development. While traditionally relying on surgically resected tissue for genetic analysis, recent advances in molecular techniques now enable the recovery and analysis of DNA from stereo-electroencephalography (SEEG) electrodes. This minimally invasive approach provides unprecedented opportunities to identify somatic mutations in patients who may not undergo resective surgery. Here, we review the current state of molecular analyses from SEEG electrodes, including recent developments in DNA sequencing, transcriptomics, and epigenetic profiling. We discuss how genetic testing may be integrated into presurgical evaluations, providing new opportunities for comprehensive molecular phenotyping of focal epilepsies. These innovations hold promises in enhancing surgical outcome prediction and guiding toward targeted therapies.
{"title":"Detection of brain somatic mutations from stereo-EEG electrodes in focal epilepsy: Current advances and future perspectives.","authors":"R Checri, S Baldassari, S Baulac","doi":"10.1016/j.neurol.2025.03.003","DOIUrl":"https://doi.org/10.1016/j.neurol.2025.03.003","url":null,"abstract":"<p><p>Brain somatic mutations are increasingly recognized as major drivers of focal epilepsy particularly in malformations of cortical development. While traditionally relying on surgically resected tissue for genetic analysis, recent advances in molecular techniques now enable the recovery and analysis of DNA from stereo-electroencephalography (SEEG) electrodes. This minimally invasive approach provides unprecedented opportunities to identify somatic mutations in patients who may not undergo resective surgery. Here, we review the current state of molecular analyses from SEEG electrodes, including recent developments in DNA sequencing, transcriptomics, and epigenetic profiling. We discuss how genetic testing may be integrated into presurgical evaluations, providing new opportunities for comprehensive molecular phenotyping of focal epilepsies. These innovations hold promises in enhancing surgical outcome prediction and guiding toward targeted therapies.</p>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143788886","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}
Pub Date : 2025-04-02DOI: 10.1016/j.neurol.2025.03.008
H Catenoix, W Grabon, S Rheims, S Vukusic, R Marignier
Epilepsy is a notable comorbidity in multiple sclerosis (MS), with a prevalence significantly higher than in the general population. This co-occurrence suggests shared pathophysiological mechanisms, including cortical demyelination, chronic inflammation and neurodegeneration, which predispose MS patients to seizures. Advanced imaging studies highlight the role of cortical lesions and atrophy in epileptogenesis, while inflammatory processes further lower the seizure threshold. Additionally, MS-associated network dysfunction disrupts normal neural activity, contributing to seizure susceptibility. This review synthesizes epidemiological, neuroimaging, and clinical evidence to elucidate the complex relationship between epilepsy and MS. It emphasizes the importance of personalized care and the need for further research to refine treatment protocols, improve outcomes, and enhance the quality of life for this unique patient population.
{"title":"Multiple sclerosis and epilepsy.","authors":"H Catenoix, W Grabon, S Rheims, S Vukusic, R Marignier","doi":"10.1016/j.neurol.2025.03.008","DOIUrl":"https://doi.org/10.1016/j.neurol.2025.03.008","url":null,"abstract":"<p><p>Epilepsy is a notable comorbidity in multiple sclerosis (MS), with a prevalence significantly higher than in the general population. This co-occurrence suggests shared pathophysiological mechanisms, including cortical demyelination, chronic inflammation and neurodegeneration, which predispose MS patients to seizures. Advanced imaging studies highlight the role of cortical lesions and atrophy in epileptogenesis, while inflammatory processes further lower the seizure threshold. Additionally, MS-associated network dysfunction disrupts normal neural activity, contributing to seizure susceptibility. This review synthesizes epidemiological, neuroimaging, and clinical evidence to elucidate the complex relationship between epilepsy and MS. It emphasizes the importance of personalized care and the need for further research to refine treatment protocols, improve outcomes, and enhance the quality of life for this unique patient population.</p>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780974","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}
Pub Date : 2025-04-01DOI: 10.1016/j.neurol.2025.01.410
O. Grimaud , S. Kerbrat , L. Menant , S. Timsit , J.-M. André , E. Nowak , V. Olié , C. Padilla , N. Le Meur
Background
Health disparities along the rural-urban spectrum are a growing concern. The objective of this study was to determine whether in France, clinical profile, care and outcome after ischemic stroke differed between patients affiliated to the statutory health insurance system dedicated to the agricultural economic sector (i.e., Mutualité Sociale Agricole [MSA]) and all other patients.
Methods
Data on all patients aged ≥ 20 years hospitalized for ischemic stroke in mainland France in 2018 were extracted from the French National Health Insurance Data System. Age-standardized percentages were used to compare the care accessed by MSA versus other stroke patients. Associations between health insurance scheme and case fatality were assessed using Poisson regression.
Results
Of 87,864 stroke cases 7928 (9%) were MSA patients. MSA patients were more often rural dwellers (75.4 versus 32%) and older (median age: 84 versus 76 years). In the 12 months prior to the stroke, access to general practitioner (GP) was similar, but MSA patients were less likely to have an appointment with a cardiologist. Pre-stroke drug prescriptions suggested a better cardiovascular profile in male MSA patients (e.g., antidiabetics: 18.1 versus 21.5%). A part from a lower access to stroke unit (e.g., women: 55.3 versus 59%) other acute care indicators, including reperfusion therapy, were comparable. The crude 7-day case fatality was higher for MSA patients (Relative Risk [RR]: 1.44, 95% CI [1.32–1.57]), but this disadvantage reduced to non-significant level after adjustment for age, comorbidities and stroke management (adjusted RR: 1.07 95% CI [0.98–1.18])
Conclusions
For the mostly farming, rural, MSA population, pre-stroke, acute and post-stroke care did not differ markedly from that provided to other patients. The lower density of GP in rural areas and the remoteness from specialized center did not result in less access to preventive and acute stroke care for MSA patients in 2018.
{"title":"Ischemic stroke care for patients affiliated to the French agricultural health insurance scheme: A national study","authors":"O. Grimaud , S. Kerbrat , L. Menant , S. Timsit , J.-M. André , E. Nowak , V. Olié , C. Padilla , N. Le Meur","doi":"10.1016/j.neurol.2025.01.410","DOIUrl":"10.1016/j.neurol.2025.01.410","url":null,"abstract":"<div><h3>Background</h3><div>Health disparities along the rural-urban spectrum are a growing concern. The objective of this study was to determine whether in France, clinical profile, care and outcome after ischemic stroke differed between patients affiliated to the statutory health insurance system dedicated to the agricultural economic sector (i.e., <em>Mutualité Sociale Agricole</em> [MSA]) and all other patients.</div></div><div><h3>Methods</h3><div>Data on all patients aged<!--> <!-->≥<!--> <!-->20 years hospitalized for ischemic stroke in mainland France in 2018 were extracted from the French National Health Insurance Data System. Age-standardized percentages were used to compare the care accessed by MSA versus other stroke patients. Associations between health insurance scheme and case fatality were assessed using Poisson regression.</div></div><div><h3>Results</h3><div>Of 87,864 stroke cases 7928 (9%) were MSA patients. MSA patients were more often rural dwellers (75.4 versus 32%) and older (median age: 84 versus 76 years). In the 12 months prior to the stroke, access to general practitioner (GP) was similar, but MSA patients were less likely to have an appointment with a cardiologist. Pre-stroke drug prescriptions suggested a better cardiovascular profile in male MSA patients (e.g., antidiabetics: 18.1 versus 21.5%). A part from a lower access to stroke unit (e.g., women: 55.3 versus 59%) other acute care indicators, including reperfusion therapy, were comparable. The crude 7-day case fatality was higher for MSA patients (Relative Risk [RR]: 1.44, 95% CI [1.32–1.57]), but this disadvantage reduced to non-significant level after adjustment for age, comorbidities and stroke management (adjusted RR: 1.07 95% CI [0.98–1.18])</div></div><div><h3>Conclusions</h3><div>For the mostly farming, rural, MSA population, pre-stroke, acute and post-stroke care did not differ markedly from that provided to other patients. The lower density of GP in rural areas and the remoteness from specialized center did not result in less access to preventive and acute stroke care for MSA patients in 2018.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 4","pages":"Pages 298-304"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483894","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}
Pub Date : 2025-04-01DOI: 10.1016/j.neurol.2025.01.413
R. Buon , C. Tessier , L. Watrin , G. Gueyraud , V. Larrue , C. Gollion
Background and purpose
Incidence of stroke among young adults is on the rise worldwide. Inequities remain among minorities and little is known about stroke characteristics among young Pacific patients. French Polynesia (FP), located in the middle of the South Pacific Ocean, could provide insight into this problem.
Methods
Patients aged 18–54 years consecutively treated for first-ever acute ischemic stroke in Tahiti, FP, from January 2022 to December 2023 were compared to a reference cohort enrolled from January 2017 to July 2021 in Toulouse, France. Patients’ characteristics were recorded and cause of stroke was classified using the ASCOD (A: atherosclerosis; S: small vessel disease; C: cardiac pathology; O: other causes; D: dissection) classification system.
Results
In total, 187 patients were included in Tahiti (Polynesians) and compared to 743 patients in Toulouse (mainland French [MF]). Median age was 47 years old in both groups. Hypertension, diabetes, hyperlipidemia, obesity, atrial fibrillation and mechanical valve were significantly higher in Polynesian patients, whereas MF patients were more likely to be men, tobacco users, and to have a stroke related to a foramen oval with atrial septal aneurysm (all P < 0.05). Multivariate analysis revealed higher prevalence of grade 1 (potentially causal) atherothrombotic (adjusted OR [aOR]: 1.775; 95% CI: 1.117–2.820; P = 0.015) and cardio-embolic stroke in Tahiti (aOR: 2.966; 95% CI: 1.956–4.496; P < 0.001), and higher rate of dissections in Toulouse (aOR: 4.545; 95% CI: 1.616–12.821; P = 0.004). Cervical atherosclerosis was significantly associated with MF patients (aOR: 5.587; 95% CI: 2.326–13.514; P < 0.001), and intracranial atherosclerosis with Polynesian patients (aOR: 3.257; 95% CI: 1.364–7.778; P = 0.008).
Conclusion
Polynesian and MF young adults with stroke appeared to have widely different characteristics and cause of stroke. These disparities underscore the necessity for tailored prevention programs and therapeutic approaches that address the unique risk profile and etiological patterns observed in Pacific Islanders.
{"title":"TOUlouse TAhiTI Stroke Study (TOUTATIS): A comparative analysis of young pacific islanders with ischemic stroke","authors":"R. Buon , C. Tessier , L. Watrin , G. Gueyraud , V. Larrue , C. Gollion","doi":"10.1016/j.neurol.2025.01.413","DOIUrl":"10.1016/j.neurol.2025.01.413","url":null,"abstract":"<div><h3>Background and purpose</h3><div>Incidence of stroke among young adults is on the rise worldwide. Inequities remain among minorities and little is known about stroke characteristics among young Pacific patients. French Polynesia (FP), located in the middle of the South Pacific Ocean, could provide insight into this problem.</div></div><div><h3>Methods</h3><div>Patients aged 18–54<!--> <!-->years consecutively treated for first-ever acute ischemic stroke in Tahiti, FP, from January 2022 to December 2023 were compared to a reference cohort enrolled from January 2017 to July 2021 in Toulouse, France. Patients’ characteristics were recorded and cause of stroke was classified using the ASCOD (A: atherosclerosis; S: small vessel disease; C: cardiac pathology; O: other causes; D: dissection) classification system.</div></div><div><h3>Results</h3><div>In total, 187 patients were included in Tahiti (Polynesians) and compared to 743 patients in Toulouse (mainland French [MF]). Median age was 47<!--> <!-->years old in both groups. Hypertension, diabetes, hyperlipidemia, obesity, atrial fibrillation and mechanical valve were significantly higher in Polynesian patients, whereas MF patients were more likely to be men, tobacco users, and to have a stroke related to a foramen oval with atrial septal aneurysm (all <em>P</em> <!--><<!--> <!-->0.05). Multivariate analysis revealed higher prevalence of grade 1 (potentially causal) atherothrombotic (adjusted OR [aOR]: 1.775; 95% CI: 1.117–2.820; <em>P</em> <!-->=<!--> <!-->0.015) and cardio-embolic stroke in Tahiti (aOR: 2.966; 95% CI: 1.956–4.496; <em>P</em> <!--><<!--> <!-->0.001), and higher rate of dissections in Toulouse (aOR: 4.545; 95% CI: 1.616–12.821; <em>P</em> <!-->=<!--> <!-->0.004). Cervical atherosclerosis was significantly associated with MF patients (aOR: 5.587; 95% CI: 2.326–13.514; <em>P</em> <!--><<!--> <!-->0.001), and intracranial atherosclerosis with Polynesian patients (aOR: 3.257; 95% CI: 1.364–7.778; <em>P</em> <!-->=<!--> <!-->0.008).</div></div><div><h3>Conclusion</h3><div>Polynesian and MF young adults with stroke appeared to have widely different characteristics and cause of stroke. These disparities underscore the necessity for tailored prevention programs and therapeutic approaches that address the unique risk profile and etiological patterns observed in Pacific Islanders.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 4","pages":"Pages 342-348"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568076","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}
Pub Date : 2025-04-01DOI: 10.1016/j.neurol.2025.01.412
M. Brison , W. Bouleftour , J.-B. Pelletier , F. Vassal , F. Barral-Clavel , E. Jadaud , C. Boutet , J.-P. Camdessanche , F. Forest , C. Ramirez
Context
Delays in cancer management have been reported during the COVID-19 pandemic. Neuro-oncology patients represent a real challenge as their disease can progress rapidly without appropriate care. However, data available for these patients over this period is scarce.
Objective
Therefore, the aim of this study was to examine the impact of the COVID-19 pandemic on therapeutic care within a specific population at a French institute. A retrospective descriptive study was conducted using electronic medical records. All patients who underwent surgery for glioma in a neurosurgery unit between January 1st, 2019 and December 31st, 2020 were included.
Results
A total of 114 patients were operated for a glioma; 70 patients in 2019 (before the pandemic) and 44 in 2020 (during the pandemic). Among these patients, 89% were diagnosed with a high-grade glioma, including 81% with glioblastoma. The mean time between first symptoms and imaging process increased from 35 days in 2019 to 40 days in 2020. However, in the subsequent steps of the care pathway, timelines improved at each stage with a reduction up to four days. The time reduction was statistically significant for two specific stages of care: (i) the interval between the surgery and the histomolecular diagnosis, with a reduction of two days, and (ii) the period between the histomoleculardiagnosis and the consultation for results announcement, with a reduction of three days. In summary, on average, the first treatment was initiated 49 days post-surgery in 2019 and 36 days post-surgery in 2020.
Conclusion
This study showed that the COVID-19 outbreak positively impacted the therapeutic care pathway of patients with glioma at a French institute. Although the improvement can be measured in days, this acceleration of care was nonetheless crucial for the population studied.
{"title":"The COVID-19 pandemic reduced delays in the care pathway for patients with glioma at a French institute","authors":"M. Brison , W. Bouleftour , J.-B. Pelletier , F. Vassal , F. Barral-Clavel , E. Jadaud , C. Boutet , J.-P. Camdessanche , F. Forest , C. Ramirez","doi":"10.1016/j.neurol.2025.01.412","DOIUrl":"10.1016/j.neurol.2025.01.412","url":null,"abstract":"<div><h3>Context</h3><div>Delays in cancer management have been reported during the COVID-19 pandemic. Neuro-oncology patients represent a real challenge as their disease can progress rapidly without appropriate care. However, data available for these patients over this period is scarce.</div></div><div><h3>Objective</h3><div>Therefore, the aim of this study was to examine the impact of the COVID-19 pandemic on therapeutic care within a specific population at a French institute. A retrospective descriptive study was conducted using electronic medical records. All patients who underwent surgery for glioma in a neurosurgery unit between January 1st, 2019 and December 31st, 2020 were included.</div></div><div><h3>Results</h3><div>A total of 114 patients were operated for a glioma; 70 patients in 2019 (before the pandemic) and 44 in 2020 (during the pandemic). Among these patients, 89% were diagnosed with a high-grade glioma, including 81% with glioblastoma. The mean time between first symptoms and imaging process increased from 35<!--> <!-->days in 2019 to 40<!--> <!-->days in 2020. However, in the subsequent steps of the care pathway, timelines improved at each stage with a reduction up to four days. The time reduction was statistically significant for two specific stages of care: (i) the interval between the surgery and the histomolecular diagnosis, with a reduction of two days, and (ii) the period between the histomoleculardiagnosis and the consultation for results announcement, with a reduction of three days. In summary, on average, the first treatment was initiated 49 days post-surgery in 2019 and 36<!--> <!-->days post-surgery in 2020.</div></div><div><h3>Conclusion</h3><div>This study showed that the COVID-19 outbreak positively impacted the therapeutic care pathway of patients with glioma at a French institute. Although the improvement can be measured in days, this acceleration of care was nonetheless crucial for the population studied.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 4","pages":"Pages 314-319"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483842","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}
Pub Date : 2025-04-01DOI: 10.1016/j.neurol.2025.01.375
D. Veillard , K. Baumstarck , A. Ousmen , S. Hamonic , G. Edan , P. Auquier
Purpose
Taking into account the experience of patients living with chronic diseases, like multiple sclerosis (MS), in the assessment of the quality of their care pathway contributes significantly to improve these quality and their own state of health. This challenge requires better identification of the determinants of this experience. The study aimed to explore the determinants of the experience of MS patients in France concerning their care pathway quality.
Patient and methods
This study was based on a dedicated cross-sectional national survey that took place in 2021. Teams from regional MS networks and MS unit at the hospital, as well as patients’ associations, invited patients to participate throughout France. Patients’ experience was assessed using the Musicare questionnaire. The determinants explored concerned their sociodemographic characteristics, quality of life and disease characteristics. To explore association between MusiCare questionnaire dimension scores and these determinants, bivariate and multivariate analysis were performed.
Results
Data were exploitable for 1971 patients living throughout France. Multivariate analysis identified significant relationships between all but one of the Musicare dimensions and several of the determinants considered in this study. The presence of a supportive caregiver, better quality of life scores, receiving specialized follow-up for MS, being a male patient and long-term illness significantly improves patient experience on one or more dimensions of the Musicare questionnaire.
Conclusion
Some of these results are consistent with those of previous studies on other chronic diseases. They require confirmation, but they pave the way for targeted interventions for these patients in France.
{"title":"Determinants of the experience of patients living with multiple sclerosis in terms of care pathway quality: An original French study","authors":"D. Veillard , K. Baumstarck , A. Ousmen , S. Hamonic , G. Edan , P. Auquier","doi":"10.1016/j.neurol.2025.01.375","DOIUrl":"10.1016/j.neurol.2025.01.375","url":null,"abstract":"<div><h3>Purpose</h3><div>Taking into account the experience of patients living with chronic diseases, like multiple sclerosis (MS), in the assessment of the quality of their care pathway contributes significantly to improve these quality and their own state of health. This challenge requires better identification of the determinants of this experience. The study aimed to explore the determinants of the experience of MS patients in France concerning their care pathway quality.</div></div><div><h3>Patient and methods</h3><div>This study was based on a dedicated cross-sectional national survey that took place in 2021. Teams from regional MS networks and MS unit at the hospital, as well as patients’ associations, invited patients to participate throughout France. Patients’ experience was assessed using the Musicare questionnaire. The determinants explored concerned their sociodemographic characteristics, quality of life and disease characteristics. To explore association between MusiCare questionnaire dimension scores and these determinants, bivariate and multivariate analysis were performed.</div></div><div><h3>Results</h3><div>Data were exploitable for 1971 patients living throughout France. Multivariate analysis identified significant relationships between all but one of the Musicare dimensions and several of the determinants considered in this study. The presence of a supportive caregiver, better quality of life scores, receiving specialized follow-up for MS, being a male patient and long-term illness significantly improves patient experience on one or more dimensions of the Musicare questionnaire.</div></div><div><h3>Conclusion</h3><div>Some of these results are consistent with those of previous studies on other chronic diseases. They require confirmation, but they pave the way for targeted interventions for these patients in France.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 4","pages":"Pages 289-297"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143433590","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}
Pub Date : 2025-04-01DOI: 10.1016/j.neurol.2025.02.003
B. Leger , E. Chaugne , M. Boudot de la Motte , M. Boucenna , C. Papeix
{"title":"Racemose neurocysticercosis with meningitis and infectious vasculitis: A case report","authors":"B. Leger , E. Chaugne , M. Boudot de la Motte , M. Boucenna , C. Papeix","doi":"10.1016/j.neurol.2025.02.003","DOIUrl":"10.1016/j.neurol.2025.02.003","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 4","pages":"Pages 364-366"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568074","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}
Pub Date : 2025-04-01DOI: 10.1016/j.neurol.2025.02.005
H. Joly , H. Brissart , R. Fabre , S. Cambiaggio , M. Zerlini , C. Honan , C. Lebrun-Frenay
Work difficulties are a primary issue of multiple sclerosis (MS). This is because disease onset usually occurs during a time when establishing a career and employment is of paramount importance. The MSWDQ-23 (Multiple Sclerosis Work Difficulties Questionnaire) was developed to assess work difficulties in MS. The WORKSEP project aimed to adapt and validate the French MSWDQ-23 and develop cutoff scores through a multicentric study in 14 centers across France. Two hundred and six persons with MS were recruited: 149 with relapsing-remitting MS and 57 with progressive forms of MS. They completed the MSWDQ-23 in French, the DEX to assess the subjective cognitive executive complaint, and the SF-36 evaluating mental (MC) and physical (PC) health-related quality of life. The results indicated that the French version of MSWDQ-23 has high internal consistency (Cronbach's α: 0.93) and test-retest reliability (ICC = 0.83). A confirmatory factor analysis demonstrated a scale structure identical to the original English version comprising physical barriers (PB), psychological and cognitive barriers (PCB), and external barriers (EB). The construct and convergent validity were strong. A higher level of work difficulties at PB score was related to a higher level of disability at the EDSS and lower PC quality of life, and a higher level of PCB was related to higher cognitive executive complaints and lower MC quality of life. ROC curves based on the difference between employed and unemployed patients allowed for determining cutoff values of 32 for the total score, 37 for PB, and 27 for PCB. This study allowed the validation of the MSWDQ-23 in the French language and is the first to propose a cutoff. Determining the cutoff value enables identifying patients needing intervention and targets the limitations that MS patients may encounter in the workplace. This easy-to-use instrument provides the opportunity to propose an adapted rehabilitation program or work adjustments to improve the quality of life in patients with MS.
{"title":"French validation of the Multiple Sclerosis Work Difficulties Questionnaire (MSWDQ-23) with determination of cutoff scores: A valuable tool in clinical practice","authors":"H. Joly , H. Brissart , R. Fabre , S. Cambiaggio , M. Zerlini , C. Honan , C. Lebrun-Frenay","doi":"10.1016/j.neurol.2025.02.005","DOIUrl":"10.1016/j.neurol.2025.02.005","url":null,"abstract":"<div><div>Work difficulties are a primary issue of multiple sclerosis (MS). This is because disease onset usually occurs during a time when establishing a career and employment is of paramount importance. The MSWDQ-23 (Multiple Sclerosis Work Difficulties Questionnaire) was developed to assess work difficulties in MS. The WORKSEP project aimed to adapt and validate the French MSWDQ-23 and develop cutoff scores through a multicentric study in 14 centers across France. Two hundred and six persons with MS were recruited: 149 with relapsing-remitting MS and 57 with progressive forms of MS. They completed the MSWDQ-23 in French, the DEX to assess the subjective cognitive executive complaint, and the SF-36 evaluating mental (MC) and physical (PC) health-related quality of life. The results indicated that the French version of MSWDQ-23 has high internal consistency (Cronbach's α: 0.93) and test-retest reliability (ICC<!--> <!-->=<!--> <!-->0.83). A confirmatory factor analysis demonstrated a scale structure identical to the original English version comprising physical barriers (PB), psychological and cognitive barriers (PCB), and external barriers (EB). The construct and convergent validity were strong. A higher level of work difficulties at PB score was related to a higher level of disability at the EDSS and lower PC quality of life, and a higher level of PCB was related to higher cognitive executive complaints and lower MC quality of life. ROC curves based on the difference between employed and unemployed patients allowed for determining cutoff values of 32 for the total score, 37 for PB, and 27 for PCB. This study allowed the validation of the MSWDQ-23 in the French language and is the first to propose a cutoff. Determining the cutoff value enables identifying patients needing intervention and targets the limitations that MS patients may encounter in the workplace. This easy-to-use instrument provides the opportunity to propose an adapted rehabilitation program or work adjustments to improve the quality of life in patients with MS.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 4","pages":"Pages 349-362"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605965","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}
Pub Date : 2025-04-01DOI: 10.1016/j.neurol.2025.02.002
V. Pourcher , M. Boudot de La Motte , M. Touat , R. Deschamps , C. Dehais , C. Houillier , F. Domont , S. Bonnin , M.-B. Le Stang , C. Rodriguez , M. Eloit , G. Peytavin , E. Maillart
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Pub Date : 2025-04-01DOI: 10.1016/j.neurol.2025.02.004
Mélanie Leroy , Anne Laure Aziz , Susanna Schraen , Vincent Deramecourt , Emilie Skrobala , Simon Lecerf , Florence Pasquier , Vincent Huin , Maxime Bertoux , Thibaud Lebouvier
Background
The cerebrospinal fluid (CSF) Aβ42/40 ratio has proven to be a more reliable biomarker for amyloid pathology than CSF Aβ42 in Alzheimer's disease (AD), helping to correctly classify patients with positive tau biomarkers (T+) that would otherwise have remained outside of the AD continuum. It was shown that the Aβ42/40 ratio better captures a relative decrease of Aβ42 in patients with high CSF Aβ. However, whether patients with high-amyloid (HiA) AD, in whom A+ is defined by the Aβ42/40 ratio, exactly compare with their low-amyloid (LoA) counterparts, in whom A+ is defined by Aβ42 solely, deserves further analysis.
Methods
We retrospectively included patients with A+T+ AD and evidence of cognitive and neurodegenerative changes (N+). LoA patients were operationally defined as patients with T+N+ and low CSF Aβ42, while HiA patients were defined as patients with T+N+ and normal CSF Aβ42 but abnormal Aβ42/40 ratio. Tau CSF biomarkers, neuropsychological profile, rates of cognitive decline, structural and metabolic imaging, ApoE genotype and brain neuropathology were compared between the HiA and LoA groups.
Results
At the time of the lumbar puncture, LoA patients were significantly younger than the HiA patients (68.9 ± 8.7 years vs. 71.8 ± 9.4; P = 0.0015) and had a lower Mini-Mental Status Examination (MMSE) (18.7 ± 6.4 vs. 20.7 ± 6.2; P = 0.0005). There was no difference in the neuropsychological profile nor in the annual rates of cognitive decline between the two groups with early AD. No differences were retrieved between groups on CSF Tau and P-Tau biomarkers, atrophy and brain metabolism, distribution of the APOE4 allele and APOE4/E4 genotype, and neuropathology.
Conclusions
Overall, our study supports the surrogate use of the Aβ42/40 ratio as an equivalent to Aβ42 to define AD. We showed that HiA CSF profiles were not associated with differences in cognition, brain structures and metabolism, APOE genotype tau CSF biomarkers or the rates of cognitive decline, but may be the associated with later-onset and early-stage AD.
{"title":"Comparing high and low amyloid producers in Alzheimer's disease: An in-depth analysis","authors":"Mélanie Leroy , Anne Laure Aziz , Susanna Schraen , Vincent Deramecourt , Emilie Skrobala , Simon Lecerf , Florence Pasquier , Vincent Huin , Maxime Bertoux , Thibaud Lebouvier","doi":"10.1016/j.neurol.2025.02.004","DOIUrl":"10.1016/j.neurol.2025.02.004","url":null,"abstract":"<div><h3>Background</h3><div>The cerebrospinal fluid (CSF) Aβ<sub>42/40</sub> ratio has proven to be a more reliable biomarker for amyloid pathology than CSF Aβ<sub>42</sub> in Alzheimer's disease (AD), helping to correctly classify patients with positive tau biomarkers (T+) that would otherwise have remained outside of the AD continuum. It was shown that the Aβ<sub>42/40</sub> ratio better captures a relative decrease of Aβ<sub>42</sub> in patients with high CSF Aβ. However, whether patients with high-amyloid (HiA) AD, in whom A+ is defined by the Aβ<sub>42/40</sub> ratio, exactly compare with their low-amyloid (LoA) counterparts, in whom A+ is defined by Aβ<sub>42</sub> solely, deserves further analysis.</div></div><div><h3>Methods</h3><div>We retrospectively included patients with A+T+ AD and evidence of cognitive and neurodegenerative changes (N+). LoA patients were operationally defined as patients with T+N+ and low CSF Aβ<sub>42</sub>, while HiA patients were defined as patients with T+N+ and normal CSF Aβ<sub>42</sub> but abnormal Aβ<sub>42/40</sub> ratio. Tau CSF biomarkers, neuropsychological profile, rates of cognitive decline, structural and metabolic imaging, ApoE genotype and brain neuropathology were compared between the HiA and LoA groups.</div></div><div><h3>Results</h3><div>At the time of the lumbar puncture, LoA patients were significantly younger than the HiA patients (68.9<!--> <!-->±<!--> <!-->8.7<!--> <!-->years vs. 71.8<!--> <!-->±<!--> <!-->9.4; <em>P</em> <!-->=<!--> <!-->0.0015) and had a lower Mini-Mental Status Examination (MMSE) (18.7<!--> <!-->±<!--> <!-->6.4 vs. 20.7<!--> <!-->±<!--> <!-->6.2; <em>P</em> <!-->=<!--> <!-->0.0005). There was no difference in the neuropsychological profile nor in the annual rates of cognitive decline between the two groups with early AD. No differences were retrieved between groups on CSF Tau and P-Tau biomarkers, atrophy and brain metabolism, distribution of the <em>APOE4</em> allele and <em>APOE4</em>/<em>E4</em> genotype, and neuropathology.</div></div><div><h3>Conclusions</h3><div>Overall, our study supports the surrogate use of the Aβ<sub>42/40</sub> ratio as an equivalent to Aβ<sub>42</sub> to define AD. We showed that HiA CSF profiles were not associated with differences in cognition, brain structures and metabolism, <em>APOE</em> genotype tau CSF biomarkers or the rates of cognitive decline, but may be the associated with later-onset and early-stage AD.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 4","pages":"Pages 332-341"},"PeriodicalIF":2.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143586589","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}