Revue neurologique最新文献

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Homozygous DNAJB4 deletion revealing myopathy with acute respiratory failure 纯合子DNAJB4缺失显示肌病伴急性呼吸衰竭。
IF 2.3 4区 医学
Revue neurologique Pub Date : 2025-08-05 DOI: 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 ,&nbsp;C. Adam ,&nbsp;C. Cauquil ,&nbsp;B. Keren ,&nbsp;N. Heming ,&nbsp;S. Amthor ,&nbsp;D. Annane ,&nbsp;G. Nicolas ,&nbsp;P. Laforêt ,&nbsp;C. Métay ,&nbsp;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":"2025-08-05","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}
引用次数: 0
Literature review: CAR T-cell therapy as a promising immunotherapeutic approach for medulloblastoma 文献综述:CAR - t细胞疗法是治疗成神经管细胞瘤的一种很有前途的免疫治疗方法。
IF 2.3 4区 医学
Revue neurologique Pub Date : 2025-08-05 DOI: 10.1016/j.neurol.2025.07.005
C. Eksteen , J. Riedemann , H. Johnson , A.-M. Engelbrecht
{"title":"Literature review: CAR T-cell therapy as a promising immunotherapeutic approach for medulloblastoma","authors":"C. Eksteen ,&nbsp;J. Riedemann ,&nbsp;H. Johnson ,&nbsp;A.-M. Engelbrecht","doi":"10.1016/j.neurol.2025.07.005","DOIUrl":"10.1016/j.neurol.2025.07.005","url":null,"abstract":"<div><div>Medulloblastoma (MB) accounts for approximately 20–25% of all childhood brain tumours and 63% of intracranial embryonic tumours, with an annual incidence of around 5 cases per million in the paediatric population. This high-grade neuroepithelial tumour of the posterior fossa can develop at any age during childhood, adolescence and even adulthood, often spreading via cerebrospinal fluid. While most MB cases are sporadic, they can be associated with genetic predisposition syndromes. Although these genetic mutations present potential therapeutic targets, the limited number of mutations and few existing therapies aimed at these neoantigens pose significant challenges. Despite aggressive multimodal treatment approaches, approximately 30% of patients ultimately succumb to MB, and survivors frequently face long-term side effects that severely impact their quality of life. MB harbours unique molecular factors, necessitating careful consideration of therapeutic targets such as the blood-brain barrier, tumour microenvironment, and the differing responses of cancer stem cells versus bulk tumour tissue. Conventional treatment typically involves maximal safe resection, risk-adapted chemotherapy, and/or radiation craniospinal irradiation. While there is general agreement on the benefits of chemotherapy for MB patients, adverse side effects remain prevalent, underscoring the need for alternative therapeutic strategies. Given the heterogeneous nature of MBs and the lack of salvage treatment, immunotherapy has emerged as a promising novel treatment avenue. This personalized approach aims to enhance specificity and potentially reduce side effects. Among these innovative methods, adoptive cell therapy, particularly chimeric antigen receptor T (CAR T) cell therapy, shows great promise. This review will explore the potential of CAR T-cell therapies in targeting MB, building on their successful application in other solid tumours.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 8","pages":"Pages 703-712"},"PeriodicalIF":2.3,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144789872","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neurological damage from recreational nitrous oxide use: Two distinct electroclinical profiles in a retrospective cohort 娱乐性氧化亚氮的神经损伤:回顾性队列中两种不同的电临床特征。
IF 2.3 4区 医学
Revue neurologique Pub Date : 2025-07-25 DOI: 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 ,&nbsp;A.-L. Bédat-Millet ,&nbsp;A. Didier-Laurent ,&nbsp;F. Louillet ,&nbsp;G. Quesney ,&nbsp;B. Hébant ,&nbsp;B. Sudrié-Arnaud ,&nbsp;D. Maltête ,&nbsp;M.L. Welter ,&nbsp;L. Guyant-Maréchal ,&nbsp;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":"2025-07-25","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}
引用次数: 0
Evaluation of choroidal thickness changes in patients with migraine using optical coherence tomography 光学相干断层成像评价偏头痛患者脉络膜厚度变化。
IF 2.3 4区 医学
Revue neurologique Pub Date : 2025-07-24 DOI: 10.1016/j.neurol.2025.06.004
M. Rekik , Y. Walha , K.S. Moalla , S. Kammoun , C. Mhiri , M. Dammak , A. Trigui
{"title":"Evaluation of choroidal thickness changes in patients with migraine using optical coherence tomography","authors":"M. Rekik ,&nbsp;Y. Walha ,&nbsp;K.S. Moalla ,&nbsp;S. Kammoun ,&nbsp;C. Mhiri ,&nbsp;M. Dammak ,&nbsp;A. Trigui","doi":"10.1016/j.neurol.2025.06.004","DOIUrl":"10.1016/j.neurol.2025.06.004","url":null,"abstract":"<div><h3>Introduction</h3><div>Optical coherence tomography (OCT) has enabled the study of ocular impairments associated with certain neurological pathologies, such as migraine. This common condition represents a risk factor for ocular ischemic complications. We investigated changes in choroidal thickness (CT) in migraine patients with and without aura (MWA and MWoA respectively) compared to healthy controls using OCT and identified factors influencing the occurrence of these anomalies in migraine.</div></div><div><h3>Methods</h3><div>This was a cross-sectional case-control study including migraine patients and control subjects. All patients and controls underwent a complete ophthalmological examination and CT measurements using a spectral domain-OCT device (DRI OCT Triton; Topcon Corp, Japan). The duration of migraine, the frequency and duration of migraine attacks, the migraine disability assessment (MIDAS) and migraine severity scale (MIGSEV) questionnaire scores were recorded.</div></div><div><h3>Results</h3><div>One hundred and twenty eyes from 60 patients (60 eyes in the MWoA group and 60 eyes in the MWA group) were included. The control group included 30 age- and gender-matched healthy participants (60 eyes). OCT revealed that CT was significantly reduced in MWoA and MWA groups compared with the control group and in the MWA group compared to MWoA group. The duration of migraine and attacks as well as the disease severity were correlated with CT. Multiregression analysis showed that disease severity was the main determinant of CT.</div></div><div><h3>Conclusion</h3><div>Our study highlights the significant impact of both types of migraine on choroidal structure. OCT proves to be promising in understanding migraine pathophysiology and potentially serves as a valuable biomarker for diagnosis and monitoring.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 7","pages":"Pages 638-643"},"PeriodicalIF":2.3,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Can a virtual reality tool detect minor executive functions impairment in patients with multiple sclerosis? 虚拟现实工具能否检测多发性硬化症患者的轻微执行功能障碍?
IF 2.3 4区 医学
Revue neurologique Pub Date : 2025-07-23 DOI: 10.1016/j.neurol.2025.06.009
R. Delsanti , E. Le Mercier , A. Briant , N. Derache , C. Arnaud , P. Branger , G. Defer
{"title":"Can a virtual reality tool detect minor executive functions impairment in patients with multiple sclerosis?","authors":"R. Delsanti ,&nbsp;E. Le Mercier ,&nbsp;A. Briant ,&nbsp;N. Derache ,&nbsp;C. Arnaud ,&nbsp;P. Branger ,&nbsp;G. Defer","doi":"10.1016/j.neurol.2025.06.009","DOIUrl":"10.1016/j.neurol.2025.06.009","url":null,"abstract":"<div><h3>Introduction</h3><div>Traditional neuropsychological tests do not always identify executive disorders in patients with multiple sclerosis (MS), despite their complaints. Many studies suggest that virtual reality (VR) may be useful to evaluate cognitive functions as close as possible to patients’ daily activities. We investigated the validity of a VR tool in the assessment of executive impairment in MS patients.</div></div><div><h3>Methods</h3><div>Thirty patients with relapsing-remitting multiple sclerosis (RRMS) and 30 matched healthy controls performed a shopping task using the Virtual Action Planning-Supermarket (VAP-S) which simulates a supermarket environment (main measures: total test duration, distance traveled, incorrect actions, number of stops, duration of stops and time to pay) with a familiarization phase followed by a test phase. In addition, neuropsychological tests assessing executive functions were proposed. Inter-group comparisons were conducted using adapted statistical tests and correlation analyses between the VAP-S and the traditional tests results were performed.</div></div><div><h3>Results</h3><div>No significant difference was observed between the two groups in traditional tests. However, during the VAP-S familiarization phase, RRMS patients performed worse than controls, showing differences in distance traveled (<em>P</em> <!-->=<!--> <!-->0.042), total test duration (<em>P</em> <!-->=<!--> <!-->0.021) and number of stops (<em>P</em> <!-->=<!--> <!-->0.034). In the VAP-S test phase, no difference was found. Correlations were observed between some of the VAP-S scores and traditional tests results in both groups.</div></div><div><h3>Conclusion</h3><div>A VR tool appears to be more effective than traditional tests in detecting mild executive difficulties in MS patients. We noticed a learning effect during the test phase, suggesting that VR could support cognitive rehabilitation and improve daily living.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 7","pages":"Pages 681-690"},"PeriodicalIF":2.3,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Zilucoplan as a fast-acting treatment for severe myasthenic exacerbation: A case series Zilucoplan作为严重肌无力加重的速效治疗:一个病例系列。
IF 2.3 4区 医学
Revue neurologique Pub Date : 2025-07-19 DOI: 10.1016/j.neurol.2025.06.010
V. Fabry , B. Acket , P. Girardie , L. Espagno , O. Cointault , P. Cintas
{"title":"Zilucoplan as a fast-acting treatment for severe myasthenic exacerbation: A case series","authors":"V. Fabry ,&nbsp;B. Acket ,&nbsp;P. Girardie ,&nbsp;L. Espagno ,&nbsp;O. Cointault ,&nbsp;P. Cintas","doi":"10.1016/j.neurol.2025.06.010","DOIUrl":"10.1016/j.neurol.2025.06.010","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 7","pages":"Pages 696-698"},"PeriodicalIF":2.3,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675577","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}
引用次数: 0
Migraine management in France: Practices of general practitioners and neurologists 偏头痛在法国的管理:全科医生和神经科医生的做法。
IF 2.3 4区 医学
Revue neurologique Pub Date : 2025-07-17 DOI: 10.1016/j.neurol.2025.06.006
C. Lucas , V. Raclot , M. Gugenheim , H. Lefebvre , B. Braithwaite , A. Ducros
{"title":"Migraine management in France: Practices of general practitioners and neurologists","authors":"C. Lucas ,&nbsp;V. Raclot ,&nbsp;M. Gugenheim ,&nbsp;H. Lefebvre ,&nbsp;B. Braithwaite ,&nbsp;A. Ducros","doi":"10.1016/j.neurol.2025.06.006","DOIUrl":"10.1016/j.neurol.2025.06.006","url":null,"abstract":"<div><h3>Background</h3><div>In 2024, despite updated French guidelines, migraine remains underdiagnosed and undertreated. We conducted a comprehensive survey to evaluate the management of migraine patients by French general practitioners (GPs) and neurologists, and to identify factors linked to low prescription rates of recommended treatments.</div></div><div><h3>Methods</h3><div>A total of 320 GPs and 215 neurologists practicing in France were analyzed after completing an online questionnaire (between June and October 2023) regarding their prescribing behaviors and influencing factors, whose potential associations were analyzed statistically.</div></div><div><h3>Results</h3><div>GPs most commonly prescribe triptans (71.6%) and non-steroidal anti-inflammatory drugs (NSAIDs, 66.6%) for acute migraine treatment, and propranolol (71.6%) as prophylaxis. Lower prescribing rates were associated with shorter practice duration, negative perceptions of risk-benefit and lack of recent migraine training. Conversely, recent migraine training significantly reduced low prescription rates of prophylactic treatments. Neurologists frequently prescribe triptans (93.5%) and NSAIDs (89.3%) for acute treatment, as well as propranolol (76.3%) and amitriptyline (61.4%) as prophylaxis. The prescription of newer treatments like calcitonin gene-related peptide monoclonal antibodies is limited, with only 7.0% of respondents frequently using them.</div></div><div><h3>Conclusion</h3><div>While GPs and neurologists often use recommended acute treatments, prophylactic and newer therapies are less commonly prescribed, despite recently updated French guidelines on migraine management.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 7","pages":"Pages 652-666"},"PeriodicalIF":2.3,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144668265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prevalence and management of psychosis in an outpatient population with Parkinson's disease: A real-life descriptive study 帕金森病患者门诊人群精神病的患病率和管理:一项真实的描述性研究。
IF 2.3 4区 医学
Revue neurologique Pub Date : 2025-07-16 DOI: 10.1016/j.neurol.2025.06.008
G. Costentin , M. Diguet , D. Wallon , L. Grangeon , D. Maltête
{"title":"Prevalence and management of psychosis in an outpatient population with Parkinson's disease: A real-life descriptive study","authors":"G. Costentin ,&nbsp;M. Diguet ,&nbsp;D. Wallon ,&nbsp;L. Grangeon ,&nbsp;D. Maltête","doi":"10.1016/j.neurol.2025.06.008","DOIUrl":"10.1016/j.neurol.2025.06.008","url":null,"abstract":"<div><h3>Background</h3><div>Previous studies reporting prevalence of psychosis were predominantly cross-sectional, with a limited focus on the full spectrum of features seen in psychosis associated with Parkinson's disease (PDPsy).</div></div><div><h3>Objectives</h3><div>To assess the prevalence of PDPsy, explore the association of PDPsy with demographic, drug-related, and disease-related characteristics and describe the management of PDPsy in an outpatient population with PD.</div></div><div><h3>Methods</h3><div>We analysed the psychosis prevalence and clinical correlates in PD patients seen for an outpatient visit at the Parkinson Expert Centre of Rouen. PD patients were evaluated with detailed clinical history taken by an investigator trained in PD (DM). Psychosis was diagnosed according to NINDS diagnostic criteria. PDPsy characteristics were collected using a standardized questionnaire composed of ten qualitative items on hallucinations, minor phenomena, and delusions. All PD patients considered to have a previous or ongoing PDPsy underwent an interview to assess the age at onset, exacerbating and relieving factors, the management and outcomes.</div></div><div><h3>Results</h3><div>From June to December 2021, 315 outpatients with PD were included in the study, 42% had previous or ongoing psychosis, mostly visual hallucinations. PD patients with PDPsy were older, with a more advanced form of the disease and were treated with a higher dose of anti-Parkinson drugs. Psychotic symptoms can be adequately managed with nonpharmacoligical approaches, while in other patients, reduction or withdrawal of drugs, or introduction of clozapine was necessary.</div></div><div><h3>Conclusions</h3><div>Untreated PDPsy is associated with impaired quality of life, and significant distress to caregivers and patients. Early detection of psychotic symptoms may yield prognostic and therapeutic benefits.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 7","pages":"Pages 674-680"},"PeriodicalIF":2.3,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144650288","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}
引用次数: 0
Description of peripheral nervous system involvement in wild-type transthyretin amyloidosis: A clinical and electrophysiological study 野生型转甲状腺蛋白淀粉样变累及周围神经系统的描述:一项临床和电生理研究。
IF 2.3 4区 医学
Revue neurologique Pub Date : 2025-07-15 DOI: 10.1016/j.neurol.2025.06.007
R. Barriol, B. Lemarchant, F. Cassim, J.-B. Davion, L. Defebvre, J.-B. Gibier, AmyloLille , N. Lamblin, C. Tard
{"title":"Description of peripheral nervous system involvement in wild-type transthyretin amyloidosis: A clinical and electrophysiological study","authors":"R. Barriol,&nbsp;B. Lemarchant,&nbsp;F. Cassim,&nbsp;J.-B. Davion,&nbsp;L. Defebvre,&nbsp;J.-B. Gibier,&nbsp;AmyloLille ,&nbsp;N. Lamblin,&nbsp;C. Tard","doi":"10.1016/j.neurol.2025.06.007","DOIUrl":"10.1016/j.neurol.2025.06.007","url":null,"abstract":"<div><h3>Introduction</h3><div>Wild-type transthyretin amyloidosis (ATTRwt) is not clearly known to be associated with peripheral neurological complications. The aim of our study was to characterize neurological involvement in ATTRwt, as well as its evolution over time, using clinical and electrodiagnostic (EDX) data.</div></div><div><h3>Methods</h3><div>We prospectively included patients diagnosed with ATTRwt who were addressed by cardiologists. All patients underwent neurological evaluation, including examination (neuropathy impairment score) and an EDX study including electrochemical skin conductance and/or sympathetic skin response testing. Motor, sensory, and small fiber composite sum scores were calculated based on the EDX data. Clinical and EDX scores were then reassessed during the follow-up period.</div></div><div><h3>Results</h3><div>Fifty-two patients were included, 94% of whom were treated with tafamidis. At inclusion 98% of patients presented peripheral nerve involvement at EDX, the most common being carpal tunnel syndrome (88%), polyneuropathy (67%), and ulnar tunnel syndrome (21%). Twenty-nine patients were reevaluated and mean follow-up was 16.7<!--> <!-->months with no significant change of clinical or neurophysiological data.</div></div><div><h3>Discussion</h3><div>In our cohort, a large majority of ATTRwt patients showed peripheral nerve involvement, generally expressed as the combination of different neurological syndromes (entrapment syndromes, large and/or small fiber polyneuropathy, radicular impairment). Polyneuropathy in ATTRwt seemed stable over our follow-up period. Clinical and EDX screening should be conducted in ATTRwt patients with symptoms suggestive of neurological involvement in order not to oversee these frequent complications which could affect therapeutic decision making.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 7","pages":"Pages 667-673"},"PeriodicalIF":2.3,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144650287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Criteria for the use of plasmapheresesis in optic neuritis: A practice review from French expert centers 视神经炎血浆置换的使用标准:法国专家中心的实践回顾。
IF 2.3 4区 医学
Revue neurologique Pub Date : 2025-07-15 DOI: 10.1016/j.neurol.2025.06.005
A. Gaulier , V. Touitou , M.-B. Rougier , M.P. Robert , H. Merle , M. Aubart , P. Cabre , C. Cochard , N. Stolowy , J. De Seze , A. Gueguen , J. Aboab , H. Zephir , A. Ungureanu , A. Caignard , C. Scherer , M. Gobert , S. Saheb , N. Fage , J.-B. Ducloyer , P. Lebranchu
{"title":"Criteria for the use of plasmapheresesis in optic neuritis: A practice review from French expert centers","authors":"A. Gaulier ,&nbsp;V. Touitou ,&nbsp;M.-B. Rougier ,&nbsp;M.P. Robert ,&nbsp;H. Merle ,&nbsp;M. Aubart ,&nbsp;P. Cabre ,&nbsp;C. Cochard ,&nbsp;N. Stolowy ,&nbsp;J. De Seze ,&nbsp;A. Gueguen ,&nbsp;J. Aboab ,&nbsp;H. Zephir ,&nbsp;A. Ungureanu ,&nbsp;A. Caignard ,&nbsp;C. Scherer ,&nbsp;M. Gobert ,&nbsp;S. Saheb ,&nbsp;N. Fage ,&nbsp;J.-B. Ducloyer ,&nbsp;P. Lebranchu","doi":"10.1016/j.neurol.2025.06.005","DOIUrl":"10.1016/j.neurol.2025.06.005","url":null,"abstract":"<div><h3>Introduction</h3><div>Some patients remain severely disabled after an episode of optic neuritis. Several studies have shown that plasmapheresis (PE) can improve visual prognosis in the absence of satisfactory recovery after corticosteroids. However, there is no clear ophthalmological criterion for doing PE, and practices vary widely. The objective of the present study was to better define the rationales for use of PE.</div></div><div><h3>Material and methods</h3><div>We investigated the real-life indications for PE in French expert centers. Based on the responses to a questionnaire and the current literature, we further provided guidelines aiming to standardize the use of PE for the management of optic neuritis.</div></div><div><h3>Results</h3><div>Twenty expert centers completed the questionnaire. Together, they accounted for 90% of patients treated by PE in France during the study period. The main criteria for using PE were as follows: severely impaired visual acuity despite corticosteroids (mean visual acuity<!--> <!-->&lt;<!--> <!-->0.6 logMAR or 20/80), high suspicion for neuromyelitis optica spectrum disorder, bilateral optic neuritis, or a profound visual field alteration.</div></div><div><h3>Conclusion</h3><div>This study provides insightful information about the real-life indications for PE in French centers for the treatment of optic neuritis. Based on our findings and the available data in the literature, we provide a decision-making algorithm for the management of optic neuritis.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 7","pages":"Pages 644-651"},"PeriodicalIF":2.3,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144650286","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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