Pub Date : 2025-01-01DOI: 10.1016/j.neurol.2024.09.007
M.I. Kediha , M. Tazir , D. Sternberg , B. Eymard , L. Ali Pacha
Background
Congenital myasthenic syndromes (CMS) are a heterogeneous group of rare genetic disorders. The acetyl choline receptor contains five subunits, with a predominance of mutations affecting the epsilon subunit gene called cholinergic receptor nicotinic epsilon (CHRNE) gene.
Objective
To study the clinical phenotype of 17 families with CHRNE gene mutations.
Methods
We report a series of 17 families with 22 affected patients carrying different mutations encoding CHRNE proteins.
Results
We studied their clinical and biological phenotypes, as well as their evolutionary profile and their response to the different therapies proposed. A phenotypic comparison was made between the families carrying the founding Maghrebian mutation and the other mutations found in this series.
Conclusion
The CHRNE gene mutations are the most frequent ones in CMS. The phenotypes reported in this study are heterogeneous, and can depend on the causative mutation.
{"title":"Congenital myasthenic syndromes by Epsilon subunit mutations: Phenotypic profiles of 17 Algerian families","authors":"M.I. Kediha , M. Tazir , D. Sternberg , B. Eymard , L. Ali Pacha","doi":"10.1016/j.neurol.2024.09.007","DOIUrl":"10.1016/j.neurol.2024.09.007","url":null,"abstract":"<div><h3>Background</h3><div>Congenital myasthenic syndromes (CMS) are a heterogeneous group of rare genetic disorders. The acetyl choline receptor contains five subunits, with a predominance of mutations affecting the epsilon subunit gene called cholinergic receptor nicotinic epsilon (<em>CHRNE</em>) gene.</div></div><div><h3>Objective</h3><div>To study the clinical phenotype of 17 families with <em>CHRNE</em> gene mutations.</div></div><div><h3>Methods</h3><div>We report a series of 17 families with 22 affected patients carrying different mutations encoding <em>CHRNE</em> proteins.</div></div><div><h3>Results</h3><div>We studied their clinical and biological phenotypes, as well as their evolutionary profile and their response to the different therapies proposed. A phenotypic comparison was made between the families carrying the founding Maghrebian mutation and the other mutations found in this series.</div></div><div><h3>Conclusion</h3><div>The <em>CHRNE</em> gene mutations are the most frequent ones in CMS. The phenotypes reported in this study are heterogeneous, and can depend on the causative mutation.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 1","pages":"Pages 79-84"},"PeriodicalIF":2.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392923","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 : 2025-01-01DOI: 10.1016/j.neurol.2023.12.011
T. Bonduelle , M. Ollivier , A. Gradel , J. Aupy
Status epilepticus (SE) represents one of the most common neurological emergencies, associated with high mortality and an important risk of functional sequelae in survivors. Magnetic resonance imaging (MRI) offers the possibility of early and noninvasive observation of seizure-induced parenchymal disturbances secondary to the epileptic process. In the present review, we propose a descriptive and comprehensive understanding of current knowledge concerning seizure-induced MRI abnormalities in SE, also called peri-ictal MRI abnormalities (PMAs). We then discuss how PMAs, as a noninvasive biomarker, could be helpful to optimize patient prognostication in SE management. Finally, we discuss alternative promising MRI approaches, including arterial spin labeling (ASL), susceptibility-weighted imaging (SWI), dynamic contrast-enhanced (DCE) MRI and dynamic susceptibility contrast (DSC) MRI that could refine our understanding of SE, particularly in non-convulsive form.
{"title":"Brain MRI in status epilepticus: Relevance of findings","authors":"T. Bonduelle , M. Ollivier , A. Gradel , J. Aupy","doi":"10.1016/j.neurol.2023.12.011","DOIUrl":"10.1016/j.neurol.2023.12.011","url":null,"abstract":"<div><div><span><span>Status epilepticus<span> (SE) represents one of the most common neurological emergencies, associated with high mortality and an important risk of functional sequelae in survivors. Magnetic resonance imaging (MRI) offers the possibility of early and noninvasive observation of seizure-induced parenchymal disturbances secondary to the epileptic process. In the present review, we propose a descriptive and comprehensive understanding of current knowledge concerning seizure-induced MRI abnormalities in SE, also called peri-ictal MRI abnormalities (PMAs). We then discuss how PMAs, as a noninvasive biomarker, could be helpful to optimize patient prognostication in SE management. Finally, we discuss alternative promising MRI approaches, including </span></span>arterial spin labeling (ASL), susceptibility-weighted imaging (SWI), dynamic contrast-enhanced (DCE) MRI and </span>dynamic susceptibility contrast (DSC) MRI that could refine our understanding of SE, particularly in non-convulsive form.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 1","pages":"Pages 31-41"},"PeriodicalIF":2.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140111321","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 : 2025-01-01DOI: 10.1016/j.neurol.2024.04.006
P. Corcia , P. Couratier , C. Ingre
Primary lateral sclerosis (PLS) is a motor neuron condition marked by pure upper motor neuron (UMN) degeneration. PLS represents around 3% of all motor neuron diseases. Classically the prognosis of PLS is less severe than those of amyotrophic lateral sclerosis (ALS). This explains the necessity to distinguish both conditions as early as possible. The key hallmark between the two diseases is the involvement of the lower motor neuron (LMN) system which is classically considered spared in PLS contrary to ALS. Although it seemed clinically easy to distinguish PLS from ALS with the aid of clinical and complementary examinations, there is a large body of evidence highlighting that the LMN system might be impaired in PLS. This led us to suggest that PLS might be considered as an almost pure UMN ALS phenotype.
原发性侧索硬化症（PLS）是一种以单纯上运动神经元（UMN）变性为特征的运动神经元疾病。原发性侧索硬化症约占所有运动神经元疾病的 3%。与肌萎缩侧索硬化症（ALS）相比，原发性肌萎缩侧索硬化症的预后通常较轻。因此，有必要尽早区分这两种疾病。这两种疾病的主要特征是下运动神经元（LMN）系统受累，与 ALS 相反，下运动神经元系统在 PLS 中通常被认为是不受影响的。虽然在临床上，借助临床和辅助检查似乎很容易将 PLS 与 ALS 区分开来，但有大量证据表明，LMN 系统可能在 PLS 中受损。这使我们认为，PLS 可被视为一种几乎纯粹的 UMN ALS 表型。
{"title":"Could PLS represent a UMN-predominant ALS syndrome?","authors":"P. Corcia , P. Couratier , C. Ingre","doi":"10.1016/j.neurol.2024.04.006","DOIUrl":"10.1016/j.neurol.2024.04.006","url":null,"abstract":"<div><div><span>Primary lateral sclerosis<span><span> (PLS) is a motor neuron condition marked by pure </span>upper motor neuron (UMN) degeneration. PLS represents around 3% of all </span></span>motor neuron diseases<span>. Classically the prognosis of PLS is less severe than those of amyotrophic lateral sclerosis<span> (ALS). This explains the necessity to distinguish both conditions as early as possible. The key hallmark between the two diseases is the involvement of the lower motor neuron (LMN) system which is classically considered spared in PLS contrary to ALS. Although it seemed clinically easy to distinguish PLS from ALS with the aid of clinical and complementary examinations, there is a large body of evidence highlighting that the LMN system might be impaired in PLS. This led us to suggest that PLS might be considered as an almost pure UMN ALS phenotype.</span></span></div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 1","pages":"Pages 52-57"},"PeriodicalIF":2.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141088653","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 : 2025-01-01DOI: 10.1016/j.neurol.2024.06.005
C. Jougleux , H. Joly , H. Brissard , B. Lenne , S. François , F. Hamelin , N. Derache , J. Morin , F. Reuter , R. Colamarino , A. Ruet
Cognitive impairment is one of the invisible symptoms of Multiple sclerosis (MS), which could be associated with depression, unemployment, reduced social interaction, inability to drive, and compromised quality of life. Moreover, the presence of cognitive impairment can be considered as a long-term prognostic factor and in the follow-up of disability. So, cognitive assessment is a crucial element in clinical follow-up of patients with MS (pwMS). International recommendations mention the use of the Brief International Cognitive Assessment in MS (BICAMS). The BICAMS, that has been recently validated in French is a brief non-exhaustive assessment, developed as a short screening battery, hence needing other supplemented tests. The present paper aims to propose a consensus, approved by expert French consensus from the Cognition group of the SF-SEP (http://sfsep.org [Société Francophone de la Sclérose en Plaques]), for cognitive assessment of pwMS suggesting the tools that should be used in order to apprehend the other cognitive impairments that could appear in MS.
认知障碍是多发性硬化症（MS）的隐形症状之一，可能与抑郁、失业、社交减少、无法驾驶和生活质量下降有关。此外，认知障碍的存在可被视为长期预后因素和残疾随访因素。因此，认知评估是对多发性硬化症患者（pwMS）进行临床随访的关键因素。国际建议提及使用多发性硬化症简明国际认知评估（BICAMS）。BICAMS 最近在法国得到了验证，它是一种简短而非详尽的评估方法，作为一种简短的筛查方法而开发，因此需要其他辅助测试。本文旨在提出一项共识，该共识得到了 SF-SEP (http://sfsep.org [Société Francophone de la Sclérose en Plaques])认知小组法国专家的认可，该共识建议使用哪些工具来对多发性硬化症患者可能出现的其他认知障碍进行认知评估。
{"title":"French consensus procedure for neuropsychological assessment in multiple sclerosis","authors":"C. Jougleux , H. Joly , H. Brissard , B. Lenne , S. François , F. Hamelin , N. Derache , J. Morin , F. Reuter , R. Colamarino , A. Ruet","doi":"10.1016/j.neurol.2024.06.005","DOIUrl":"10.1016/j.neurol.2024.06.005","url":null,"abstract":"<div><div><span><span>Cognitive impairment is one of the invisible symptoms of </span>Multiple sclerosis<span> (MS), which could be associated with depression, unemployment, reduced social interaction<span><span>, inability to drive, and compromised quality of life. Moreover, the presence of cognitive impairment can be considered as a long-term </span>prognostic factor and in the follow-up of disability. So, cognitive assessment is a crucial element in clinical follow-up of patients with MS (pwMS). International recommendations mention the use of the Brief International Cognitive Assessment in MS (BICAMS). The BICAMS, that has been recently validated in French is a brief non-exhaustive assessment, developed as a short screening battery, hence needing other supplemented tests. The present paper aims to propose a consensus, approved by expert French consensus from the Cognition group of the SF-SEP (</span></span></span><span><span>http://sfsep.org</span><svg><path></path></svg></span><span> [Société Francophone de la Sclérose en Plaques]), for cognitive assessment of pwMS suggesting the tools that should be used in order to apprehend the other cognitive impairments that could appear in MS.</span></div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 1","pages":"Pages 58-66"},"PeriodicalIF":2.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141604079","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 : 2024-12-21DOI: 10.1016/j.neurol.2024.11.004
D Amstutz, M Sousa, M E Maradan-Gachet, I Debove, E Lhommée, P Krack
Introduction: Neuropsychiatric symptoms are highly prevalent in Parkinson's disease (PD) and significantly affect the quality of life of patients and their significant others. The aim of this work is to describe typical neuropsychiatric symptoms and their treatment.
Methods: This is a narrative opinion paper, illustrated by a fictional case report. The most common neuropsychiatric symptoms such as depressive symptoms, anxiety, apathy, psychotic symptoms, impulse control disorders, as well as cognitive impairment are discussed in the context of prodromal stage, early stage, fluctuations stage, post-surgical intervention, and late stage of PD.
Results: Multiple factors such as pathophysiology, dopaminergic medication, deep brain stimulation, personality traits and individual life circumstances influence neuropsychiatric symptoms. Since the complexity and causes of neuropsychiatric symptoms can change, management strategies have to be adapted and individualised throughout the disease trajectory.
Discussion: Recognising neuropsychiatric symptoms within the framework of the disease stage and identifying their potential causes is pivotal to provide adequate interventions.
{"title":"Psychiatric and cognitive symptoms of Parkinson's disease: A life's tale.","authors":"D Amstutz, M Sousa, M E Maradan-Gachet, I Debove, E Lhommée, P Krack","doi":"10.1016/j.neurol.2024.11.004","DOIUrl":"https://doi.org/10.1016/j.neurol.2024.11.004","url":null,"abstract":"<p><strong>Introduction: </strong>Neuropsychiatric symptoms are highly prevalent in Parkinson's disease (PD) and significantly affect the quality of life of patients and their significant others. The aim of this work is to describe typical neuropsychiatric symptoms and their treatment.</p><p><strong>Methods: </strong>This is a narrative opinion paper, illustrated by a fictional case report. The most common neuropsychiatric symptoms such as depressive symptoms, anxiety, apathy, psychotic symptoms, impulse control disorders, as well as cognitive impairment are discussed in the context of prodromal stage, early stage, fluctuations stage, post-surgical intervention, and late stage of PD.</p><p><strong>Results: </strong>Multiple factors such as pathophysiology, dopaminergic medication, deep brain stimulation, personality traits and individual life circumstances influence neuropsychiatric symptoms. Since the complexity and causes of neuropsychiatric symptoms can change, management strategies have to be adapted and individualised throughout the disease trajectory.</p><p><strong>Discussion: </strong>Recognising neuropsychiatric symptoms within the framework of the disease stage and identifying their potential causes is pivotal to provide adequate interventions.</p>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142877823","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 : 2024-12-19DOI: 10.1016/j.neurol.2024.11.003
N Valyraki, G Ahle, E Tabouret, R Houot, F Jardin, H Ghesquières, A Schmitt, J Paillassa, S Choquet, C Soussain, R Ursu, L Nichelli, M Legarff-Tavernier, B Mathon, L Rozenblum, K Mokhtari, K Hoang-Xuan, C Houillier
Purpose: Primary central nervous system lymphoma (PCNSL) mainly affects the brain (>90% cases); there are very little data pertaining to PCNSL involving the spinal cord.
Methods: We retrospectively selected from the French LOC network database adult immunocompetent patients diagnosed with PCNSL involving the spinal cord between 2011 and 2022.
Results: Of the 2043 patients records retrieved from the database, 16 patients (median age: 62.5 years, median Karnofsky performance status: 40) satisfied our study's selection criteria. The median diagnostic delay was 97 days. Upon diagnosis, 10 patients could not walk, and seven had an indwelling urinary catheter. All of the patients had undergone MRI that revealed expansive lesion(s) with homogeneous contrast enhancement. Brain lesions were found in nine patients and CSF IL-10 was increased in 9 of 10 patients. The diagnosis of PCNSL was made based on brain biopsy (n=6), spinal cord biopsy or surgery (n=6) or cytologic analysis of CSF (n=4). All the patients were treated with high-dose methotrexate-based chemotherapy, followed by spinal cord irradiation (n=1) or autograft (n=4). The median PFS and OS were 29 and 51 months, respectively. Among the responders, 33% remained in a wheelchair, and only 25% regained the ability to walk without assistance.
Conclusion: Considering the high risks associated with a spinal cord biopsy, the rarity of the disease and the lack of specificity of its clinicoradiological presentation, the diagnosis of spinal cord lymphoma is often delayed. Searching for other lymphomatous locations or assaying CSF IL-10 may be helpful in this disease, which can cause irreversible handicap.
目的：原发性中枢神经系统淋巴瘤（Primary central nervous system lymphoma， PCNSL）主要累及大脑（> ~ 90%）；关于PCNSL涉及脊髓的数据很少。方法：我们回顾性地从法国LOC网络数据库中选择2011年至2022年间诊断为累及脊髓的PCNSL的成人免疫功能正常患者。结果：从数据库中检索到的2043例患者记录中，有16例患者（中位年龄：62.5岁，中位Karnofsky性能状态：40）满足我们的研究选择标准。中位诊断延迟为97天。确诊后，10名患者不能行走，7名患者有留置导尿管。所有患者均行MRI检查，病变呈扩张性，造影增强均匀。9例患者出现脑损伤，9例患者脑脊液IL-10升高。PCNSL的诊断基于脑活检（n=6）、脊髓活检或手术（n=6）或脑脊液细胞学分析（n=4）。所有患者均接受大剂量甲氨蝶呤化疗，随后进行脊髓照射（n=1）或自体移植（n=4）。中位PFS和OS分别为29个月和51个月。在应答者中，33%的人仍然坐在轮椅上，只有25%的人在没有帮助的情况下恢复了行走能力。结论：考虑到脊髓活检的高风险，罕见的疾病和缺乏特异性的临床放射学表现，脊髓淋巴瘤的诊断往往被推迟。寻找其他淋巴瘤位置或检测CSF IL-10可能对这种疾病有帮助，这种疾病可能导致不可逆转的障碍。
{"title":"Primary central nervous system lymphoma of the spinal cord: A LOC network cohort study.","authors":"N Valyraki, G Ahle, E Tabouret, R Houot, F Jardin, H Ghesquières, A Schmitt, J Paillassa, S Choquet, C Soussain, R Ursu, L Nichelli, M Legarff-Tavernier, B Mathon, L Rozenblum, K Mokhtari, K Hoang-Xuan, C Houillier","doi":"10.1016/j.neurol.2024.11.003","DOIUrl":"https://doi.org/10.1016/j.neurol.2024.11.003","url":null,"abstract":"<p><strong>Purpose: </strong>Primary central nervous system lymphoma (PCNSL) mainly affects the brain (>90% cases); there are very little data pertaining to PCNSL involving the spinal cord.</p><p><strong>Methods: </strong>We retrospectively selected from the French LOC network database adult immunocompetent patients diagnosed with PCNSL involving the spinal cord between 2011 and 2022.</p><p><strong>Results: </strong>Of the 2043 patients records retrieved from the database, 16 patients (median age: 62.5 years, median Karnofsky performance status: 40) satisfied our study's selection criteria. The median diagnostic delay was 97 days. Upon diagnosis, 10 patients could not walk, and seven had an indwelling urinary catheter. All of the patients had undergone MRI that revealed expansive lesion(s) with homogeneous contrast enhancement. Brain lesions were found in nine patients and CSF IL-10 was increased in 9 of 10 patients. The diagnosis of PCNSL was made based on brain biopsy (n=6), spinal cord biopsy or surgery (n=6) or cytologic analysis of CSF (n=4). All the patients were treated with high-dose methotrexate-based chemotherapy, followed by spinal cord irradiation (n=1) or autograft (n=4). The median PFS and OS were 29 and 51 months, respectively. Among the responders, 33% remained in a wheelchair, and only 25% regained the ability to walk without assistance.</p><p><strong>Conclusion: </strong>Considering the high risks associated with a spinal cord biopsy, the rarity of the disease and the lack of specificity of its clinicoradiological presentation, the diagnosis of spinal cord lymphoma is often delayed. Searching for other lymphomatous locations or assaying CSF IL-10 may be helpful in this disease, which can cause irreversible handicap.</p>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142872765","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 : 2024-12-06DOI: 10.1016/j.neurol.2024.11.002
A Storck, M Fleury, G Tacchi, G Maffon, L Kremer, K Bigaut
{"title":"SUNCT onset following ophthalmic-distribution zoster: Description of a case and review of the literature.","authors":"A Storck, M Fleury, G Tacchi, G Maffon, L Kremer, K Bigaut","doi":"10.1016/j.neurol.2024.11.002","DOIUrl":"https://doi.org/10.1016/j.neurol.2024.11.002","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792357","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 : 2024-12-02DOI: 10.1016/j.neurol.2024.10.007
I Ketata, E Ellouz
Background: Vascular diseases (VDs) are increasingly studied in multiple sclerosis (MS) due to their significant impact on disability and mortality. Our aim was to evaluate VD incidence rates and determine the prevalence of VD-related mortality.
Material and methods: Our study followed the PRISMA 2020 guidelines. We searched PubMed, Google Scholar, Europe PMC, and Web of Science from the inception up to April 30th, 2024. Data analysis was performed using the R statistics package program. Sensitivity analysis, subgroup analysis, and meta-regression were conducted for significant heterogeneity.
Results: We collected 23 studies. Patients with MS exhibited significantly higher rates of VD compared with controls. Patients with MS showed a significantly higher rate of heart failure (HF), venous thromboembolism (VTE), peripheral vascular disease (PVD), and stroke, although the incidence rate of atrial fibrillation/flutter was significantly lower compared with controls. High blood pressure tended to be lower compared with controls. The highest rate of VD was within the first 10years of follow-up, significantly for myocardial infraction, VTE, and stroke, compared with controls. Regarding mortality, the prevalence of VD-related mortality among deceased individuals with MS was 16.7% [95% CI 11.8;22.0].
Conclusion: Our meta-analysis revealed a significant dynamic nexus between MS and VD. MS may act as an independent risk factor for certain VDs, yet it could also be a protective factor against others. Physicians should consider VD and mortality related to VD when managing patients with MS.
背景：血管疾病（VDs）在多发性硬化症（MS）中的研究越来越多，因为它们对残疾和死亡率有重要影响。我们的目的是评估VD发病率并确定VD相关死亡率的流行率。材料和方法：我们的研究遵循PRISMA 2020指南。我们搜索了PubMed， b谷歌Scholar， Europe PMC和Web of Science，从网站成立到2024年4月30日。使用R统计软件包程序进行数据分析。对异质性进行敏感性分析、亚组分析和meta回归分析。结果：我们收集了23项研究。与对照组相比，MS患者表现出明显更高的VD发生率。MS患者心力衰竭（HF）、静脉血栓栓塞（VTE）、外周血管疾病（PVD）和中风的发生率明显高于对照组，但心房颤动/扑动的发生率明显低于对照组。与对照组相比，高血压倾向于较低。与对照组相比，VD发病率最高的是在随访的前10年，心肌梗死、静脉血栓栓塞和中风的发生率最高。关于死亡率，MS患者中vd相关死亡率的患病率为16.7% [95% CI 11.8;22.0]。结论：我们的荟萃分析揭示了MS和VD之间显著的动态联系。多发性硬化症可能是某些VDs的独立风险因素，但它也可能是对其他VDs的保护因素。在治疗多发性硬化症患者时，医生应考虑到VD和与VD相关的死亡率。
{"title":"Multiple sclerosis and vascular nexus: A systematic review and meta-analysis of incidence and mortality.","authors":"I Ketata, E Ellouz","doi":"10.1016/j.neurol.2024.10.007","DOIUrl":"https://doi.org/10.1016/j.neurol.2024.10.007","url":null,"abstract":"<p><strong>Background: </strong>Vascular diseases (VDs) are increasingly studied in multiple sclerosis (MS) due to their significant impact on disability and mortality. Our aim was to evaluate VD incidence rates and determine the prevalence of VD-related mortality.</p><p><strong>Material and methods: </strong>Our study followed the PRISMA 2020 guidelines. We searched PubMed, Google Scholar, Europe PMC, and Web of Science from the inception up to April 30th, 2024. Data analysis was performed using the R statistics package program. Sensitivity analysis, subgroup analysis, and meta-regression were conducted for significant heterogeneity.</p><p><strong>Results: </strong>We collected 23 studies. Patients with MS exhibited significantly higher rates of VD compared with controls. Patients with MS showed a significantly higher rate of heart failure (HF), venous thromboembolism (VTE), peripheral vascular disease (PVD), and stroke, although the incidence rate of atrial fibrillation/flutter was significantly lower compared with controls. High blood pressure tended to be lower compared with controls. The highest rate of VD was within the first 10years of follow-up, significantly for myocardial infraction, VTE, and stroke, compared with controls. Regarding mortality, the prevalence of VD-related mortality among deceased individuals with MS was 16.7% [95% CI 11.8;22.0].</p><p><strong>Conclusion: </strong>Our meta-analysis revealed a significant dynamic nexus between MS and VD. MS may act as an independent risk factor for certain VDs, yet it could also be a protective factor against others. Physicians should consider VD and mortality related to VD when managing patients with MS.</p>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142771852","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 : 2024-12-01DOI: 10.1016/j.neurol.2023.09.005
Meriem Tazir , Sonia Nouioua
Distal hereditary motor neuropathies (dHMN) are a group of heterogeneous hereditary disorders characterized by a slowly progressive distal pure motor neuropathy. Electrophysiology, with normal motor and sensory conduction velocities, can suggest the diagnosis of dHMN and guide the genetic study. More than thirty genes are currently associated with HMNs, but around 60 to 70% of cases of dHMN remain uncharacterized genetically. Recent cohort studies showed that HSPB1, GARS, BICB2 and DNAJB2 are among the most frequent dHMN genes and that the prevalence of the disease was calculated as 2.14 and 2.3 per 100,000. The determination of the different genes involved in dHMNs made it possible to observe a genotypic overlap with some other neurogenetic disorders and other hereditary neuropathies such as CMT2, mainly with the HSPB1, HSPB8, BICD2 and TRPV4 genes of AD-inherited transmission and recently observed with SORD gene of AR transmission which seems relatively frequent and potentially curable. Distal hereditary motor neuropathy that predominates in the upper limbs is linked mainly to three genes: GARS, BSCL2 and REEP1, whereas dHMN with vocal cord palsy is associated with SLC5A7, DCTN1 and TRPV4 genes. Among the rare AR forms of dHMN like IGHMBP2 and DNAJB2, the SIGMAR1 gene mutations as well as VRK1 variants are associated with a motor neuropathy phenotype often associated with upper motoneuron involvement. The differential diagnosis of these latter arises with juvenile forms of amyotrophic lateral sclerosis, that could be caused also by variations of these genes, as well as hereditary spastic paraplegia. A differential diagnosis of dHMN related to Brown Vialetto Van Laere syndrome due to riboflavin transporter deficiency is important to consider because of the therapeutic possibility.
{"title":"Distal hereditary motor neuropathies","authors":"Meriem Tazir , Sonia Nouioua","doi":"10.1016/j.neurol.2023.09.005","DOIUrl":"10.1016/j.neurol.2023.09.005","url":null,"abstract":"<div><div><span>Distal hereditary motor neuropathies (dHMN) are a group of heterogeneous hereditary disorders characterized by a slowly progressive distal pure motor neuropathy. Electrophysiology, with normal motor and sensory conduction velocities, can suggest the diagnosis of dHMN<span> and guide the genetic study. More than thirty genes are currently associated with HMNs, but around 60 to 70% of cases of dHMN remain uncharacterized genetically. Recent cohort studies showed that </span></span><em>HSPB1</em>, <em>GARS</em>, <em>BICB2</em> and <em>DNAJB2</em> are among the most frequent dHMN genes and that the prevalence of the disease was calculated as 2.14 and 2.3 per 100,000. The determination of the different genes involved in dHMNs made it possible to observe a genotypic overlap with some other neurogenetic disorders and other hereditary neuropathies such as CMT2, mainly with the <em>HSPB1</em>, <em>HSPB8</em>, <em>BICD2</em> and <em>TRPV4</em> genes of AD-inherited transmission and recently observed with <span><span>SORD</span></span> gene of AR transmission which seems relatively frequent and potentially curable. Distal hereditary motor neuropathy that predominates in the upper limbs is linked mainly to three genes: <em>GARS</em>, <em>BSCL2</em> and <em>REEP1</em>, whereas dHMN with vocal cord palsy is associated with <em>SLC5A7</em>, <em>DCTN1</em> and <em>TRPV4</em> genes. Among the rare AR forms of dHMN like <em>IGHMBP2</em> and <em>DNAJB2</em>, the <em>SIGMAR1</em> gene mutations as well as <em>VRK1</em><span> variants are associated with a motor neuropathy phenotype often associated with upper motoneuron involvement. The differential diagnosis of these latter arises with juvenile forms of amyotrophic lateral sclerosis, that could be caused also by variations of these genes, as well as hereditary spastic paraplegia. A differential diagnosis of dHMN related to Brown Vialetto Van Laere syndrome due to riboflavin transporter deficiency is important to consider because of the therapeutic possibility.</span></div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 10","pages":"Pages 1031-1036"},"PeriodicalIF":2.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140857963","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 : 2024-12-01DOI: 10.1016/j.neurol.2024.07.001
V. Leclercq , J.-C. Corvol
Introduction
Parkinson's disease (PD) is a neurodegenerative disorder characterized by motor and non-motor symptoms, among which impulse control disorders behaviors (ICD) emerge as significant non-motor manifestations. ICD in PD patients, including pathological gambling, hypersexuality, compulsive buying, among others, lead to considerable impairment and reduced quality of life. This review aims to explore the multifaceted risk factors associated with ICD in PD patients, including clinical, pharmacological, and genetic aspects, to enhance early identification, prevention, and management strategies.
Methods
A comprehensive review of literature was conducted to identify studies investigating risk factors for ICD in PD. Data from clinical, pharmacological, and genetic studies were analyzed to elucidate the complex interplay of factors contributing to ICD development.
Results
Clinical risk factors such as young age, male gender, and specific personality traits were consistently associated with a higher incidence of ICD. Environmental factors such as cultural nuances and geographic location influence ICD prevalence. Disease characteristics include early PD onset, longer disease duration, motor fluctuations, anxiety, depression, sleep disorders, and apathy. Pharmaceutical risk factors involve dopaminergic drugs, with dopamine agonists showing a dose-dependent association with ICD. Genetic risk factors highlight the involvement of dopaminergic and serotoninergic systems, with various neurotransmitter pathways implicated.
Conclusions
ICDs are common and severe in PD. Understanding the multifaceted risk factors for ICD in PD is crucial for identifying patients at high risk to develop these adverse effects and developing targeted interventions to prevent their occurrence. Given their frequency and potential consequences for the patient and their family, the current strategy is to systematically screen for ICDs throughout patient follow-up, particularly when prescribing dopamine agonists.
{"title":"Impulse control disorder: Review on clinical, pharmacologic, and genetic risk factors","authors":"V. Leclercq , J.-C. Corvol","doi":"10.1016/j.neurol.2024.07.001","DOIUrl":"10.1016/j.neurol.2024.07.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Parkinson's disease (PD) is a neurodegenerative disorder characterized by motor and non-motor symptoms, among which impulse control disorders behaviors (ICD) emerge as significant non-motor manifestations. ICD in PD patients, including pathological gambling, hypersexuality, compulsive buying, among others, lead to considerable impairment and reduced quality of life. This review aims to explore the multifaceted risk factors associated with ICD in PD patients, including clinical, pharmacological, and genetic aspects, to enhance early identification, prevention, and management strategies.</div></div><div><h3>Methods</h3><div>A comprehensive review of literature was conducted to identify studies investigating risk factors for ICD in PD. Data from clinical, pharmacological, and genetic studies were analyzed to elucidate the complex interplay of factors contributing to ICD development.</div></div><div><h3>Results</h3><div>Clinical risk factors such as young age, male gender, and specific personality traits were consistently associated with a higher incidence of ICD. Environmental factors such as cultural nuances and geographic location influence ICD prevalence. Disease characteristics include early PD onset, longer disease duration, motor fluctuations, anxiety, depression, sleep disorders, and apathy. Pharmaceutical risk factors involve dopaminergic drugs, with dopamine agonists showing a dose-dependent association with ICD. Genetic risk factors highlight the involvement of dopaminergic and serotoninergic systems, with various neurotransmitter pathways implicated.</div></div><div><h3>Conclusions</h3><div>ICDs are common and severe in PD. Understanding the multifaceted risk factors for ICD in PD is crucial for identifying patients at high risk to develop these adverse effects and developing targeted interventions to prevent their occurrence. Given their frequency and potential consequences for the patient and their family, the current strategy is to systematically screen for ICDs throughout patient follow-up, particularly when prescribing dopamine agonists.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 10","pages":"Pages 1071-1077"},"PeriodicalIF":2.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142126573","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}
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