Pub Date : 2026-01-01DOI: 10.1016/j.neurol.2025.11.001
A. Moulignier , J. Guillaume , V. Pourcher , E. Maillart , E. Januel , C. Papeix
Background
The coexistence of HIV infection and multiple sclerosis (MS) is uncommon, and poorly characterized. Whether HIV-related immune modulation influences MS, progression remains uncertain. Despite theoretical immunological interactions, real-world data are scarce.
Objectives
To compare long-term disability outcomes in persons living with HIV (PLWHIVs) with MS (MS-PLWHIVs) versus matched HIV-negative MS controls (MS-controls).
Methods
This observational retrospective matched cohort study used databases from two French tertiary MS centers (1991–2021). Each MS-PLWHIV was matched with up to five MS-controls for MS subtype (relapsing-remitting or primary-progressive), sex, age at first MS attack (±5 years), and first-to-second attack interval (±5 years). The primary outcome was time to reach sustained EDSS-6 (cane use for ≥ 12 months). Time-to-event analyses used Kaplan–Meier estimates and Cox regression adjusted for matching variables.
Results
We identified 16 MS-PLWHIVs and 75 matched MS-controls, with comparable baseline MS characteristics and a median follow-up > 20 years. MS-PLWHIVs received significantly fewer MS disease-modifying therapies (MS-DMTs) (median: 0 [0–1] vs. 2 [1–3.5], P < 0.001), and only 19% were still treated at study end versus 75% of controls. Notwithstanding this treatment gap, MS-PLWHIVs reached EDSS-6 a median of 8 years later than controls (22.8 vs. 14.5 years, P = 0.05). However, the risk of reaching EDSS-6 did not differ significantly (adjusted HR: 1.60 [95% CI: 0.6–4.2], P = 0.6). One-third of patients in each group converted to secondary progressive MS.
Conclusion
Despite fewer MS-DMTs, MS-PLWHIVs did not show worse disability progression and even appeared to progress more slowly. While HIV-related immune modulation could contribute, this remains speculative. These findings, though limited by small sample size and retrospective design, provide rare long-term data on this understudied comorbidity.
{"title":"Impact of HIV on disability progression in multiple sclerosis: An observational retrospective matched cohort study","authors":"A. Moulignier , J. Guillaume , V. Pourcher , E. Maillart , E. Januel , C. Papeix","doi":"10.1016/j.neurol.2025.11.001","DOIUrl":"10.1016/j.neurol.2025.11.001","url":null,"abstract":"<div><h3>Background</h3><div>The coexistence of HIV infection and multiple sclerosis (MS) is uncommon, and poorly characterized. Whether HIV-related immune modulation influences MS, progression remains uncertain. Despite theoretical immunological interactions, real-world data are scarce.</div></div><div><h3>Objectives</h3><div>To compare long-term disability outcomes in persons living with HIV (PLWHIVs) with MS (MS-PLWHIVs) versus matched HIV-negative MS controls (MS-controls).</div></div><div><h3>Methods</h3><div>This observational retrospective matched cohort study used databases from two French tertiary MS centers (1991–2021). Each MS-PLWHIV was matched with up to five MS-controls for MS subtype (relapsing-remitting or primary-progressive), sex, age at first MS attack (±5 years), and first-to-second attack interval (±5 years). The primary outcome was time to reach sustained EDSS-6 (cane use for<!--> <!-->≥<!--> <!-->12 months). Time-to-event analyses used Kaplan–Meier estimates and Cox regression adjusted for matching variables.</div></div><div><h3>Results</h3><div>We identified 16 MS-PLWHIVs and 75 matched MS-controls, with comparable baseline MS characteristics and a median follow-up<!--> <!-->><!--> <!-->20 years. MS-PLWHIVs received significantly fewer MS disease-modifying therapies (MS-DMTs) (median: 0 [0–1] vs. 2 [1–3.5], <em>P</em> <!--><<!--> <!-->0.001), and only 19% were still treated at study end versus 75% of controls. Notwithstanding this treatment gap, MS-PLWHIVs reached EDSS-6 a median of 8 years later than controls (22.8 vs. 14.5 years, <em>P</em> <!-->=<!--> <!-->0.05). However, the risk of reaching EDSS-6 did not differ significantly (adjusted HR: 1.60 [95% CI: 0.6–4.2], <em>P</em> <!-->=<!--> <!-->0.6). One-third of patients in each group converted to secondary progressive MS.</div></div><div><h3>Conclusion</h3><div>Despite fewer MS-DMTs, MS-PLWHIVs did not show worse disability progression and even appeared to progress more slowly. While HIV-related immune modulation could contribute, this remains speculative. These findings, though limited by small sample size and retrospective design, provide rare long-term data on this understudied comorbidity.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"182 1","pages":"Pages 65-74"},"PeriodicalIF":2.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145769066","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 : 2026-01-01DOI: 10.1016/j.neurol.2025.11.002
A. Nishi
{"title":"Fertility ratio of functional/dissociative seizures compared to other neuropsychiatric disorders","authors":"A. Nishi","doi":"10.1016/j.neurol.2025.11.002","DOIUrl":"10.1016/j.neurol.2025.11.002","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"182 1","pages":"Pages 109-110"},"PeriodicalIF":2.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145769105","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 : 2026-01-01DOI: 10.1016/j.neurol.2025.11.003
B. Vovard , J. Faure-de Baets , P. Codron , P. Allain , J. Cassereau
Objectives
The aim of this review was to evaluate the current evidence on which part of social cognition is impaired in amyotrophic lateral sclerosis (ALS) patients among emotion recognition, affective empathy and Theory of Mind (ToM) and to suggest improvements in social cognition testing protocols.
Methods
A systematic review was conducted according to PRISMA guidelines. We included controlled cross-sectional or longitudinal studies published in English before September 1, 2024, that assessed social cognition in non-demented ALS patients. Searches were performed in Medline, Embase, Web of Science, and PsycINFO using specific MeSH terms. Studies using social cognition tests as a primary or secondary outcome were included.
Results
Thirty-four studies were analyzed. Impairments in emotion recognition — especially for negative emotions — were frequently reported, even in cognitively preserved ALS patients. Results for cognitive ToM were mixed and may be confounded by executive dysfunction or test limitations. In contrast, affective ToM deficits were more consistently identified. However, no included study directly assessed affective empathy. Tests used in the reviewed studies were often overly specific and lacked ecological validity, which may explain inconsistent results across domains and weak correlations with imaging or executive function.
Conclusion
Social cognition is increasingly recognized as a key non-motor domain affected in ALS. However, current assessment tools may lack the sensitivity and ecological validity needed to capture real-life deficits. The implementation of dynamic, multimodal assessments such as real-life social interaction tests or tests like the Movie Assessment for Social Cognition (MASC) could improve detection and guide clinical interventions but remain to be validated for ALS patients.
目的：本综述旨在评估肌萎缩侧索硬化症（ALS）患者在情绪识别、情感共情和心理理论（ToM）中哪部分社会认知受损的现有证据，并提出社会认知测试方案的改进建议。方法：根据PRISMA指南进行系统评价。我们纳入了2024年9月1日之前以英文发表的对照横断面或纵向研究，这些研究评估了非痴呆性ALS患者的社会认知。在Medline， Embase， Web of Science和PsycINFO中使用特定的MeSH术语进行搜索。使用社会认知测试作为主要或次要结果的研究被纳入。结果：共分析34项研究。情绪识别障碍——尤其是负面情绪——经常被报道，甚至在认知能力完好的ALS患者中也是如此。认知性汤姆的结果是混杂的，可能与执行功能障碍或测试限制相混淆。相比之下，情感性ToM缺陷的识别更为一致。然而，没有纳入研究直接评估情感共情。所审查的研究中使用的测试通常过于具体，缺乏生态有效性，这可能解释了跨领域结果不一致以及与成像或执行功能的弱相关性。结论：社会认知被越来越多的人认为是ALS患者受影响的关键非运动领域。然而，目前的评估工具可能缺乏捕捉现实生活中的缺陷所需的敏感性和生态有效性。实施动态、多模式的评估，如现实生活中的社会互动测试或社会认知电影评估（MASC）等测试，可以提高检测和指导临床干预，但仍有待于对ALS患者进行验证。
{"title":"Assessment of social cognition impairments in patients with amyotrophic lateral sclerosis: How can it be improved? A systematic review","authors":"B. Vovard , J. Faure-de Baets , P. Codron , P. Allain , J. Cassereau","doi":"10.1016/j.neurol.2025.11.003","DOIUrl":"10.1016/j.neurol.2025.11.003","url":null,"abstract":"<div><h3>Objectives</h3><div>The aim of this review was to evaluate the current evidence on which part of social cognition is impaired in amyotrophic lateral sclerosis (ALS) patients among emotion recognition, affective empathy and Theory of Mind (ToM) and to suggest improvements in social cognition testing protocols.</div></div><div><h3>Methods</h3><div>A systematic review was conducted according to PRISMA guidelines. We included controlled cross-sectional or longitudinal studies published in English before September 1, 2024, that assessed social cognition in non-demented ALS patients. Searches were performed in Medline, Embase, Web of Science, and PsycINFO using specific MeSH terms. Studies using social cognition tests as a primary or secondary outcome were included.</div></div><div><h3>Results</h3><div>Thirty-four studies were analyzed. Impairments in emotion recognition — especially for negative emotions — were frequently reported, even in cognitively preserved ALS patients. Results for cognitive ToM were mixed and may be confounded by executive dysfunction or test limitations. In contrast, affective ToM deficits were more consistently identified. However, no included study directly assessed affective empathy. Tests used in the reviewed studies were often overly specific and lacked ecological validity, which may explain inconsistent results across domains and weak correlations with imaging or executive function.</div></div><div><h3>Conclusion</h3><div>Social cognition is increasingly recognized as a key non-motor domain affected in ALS. However, current assessment tools may lack the sensitivity and ecological validity needed to capture real-life deficits. The implementation of dynamic, multimodal assessments such as real-life social interaction tests or tests like the Movie Assessment for Social Cognition (MASC) could improve detection and guide clinical interventions but remain to be validated for ALS patients.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"182 1","pages":"Pages 10-25"},"PeriodicalIF":2.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145769061","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 : 2026-01-01DOI: 10.1016/j.neurol.2025.12.002
J. Henri , S. Redon , A. Donnet
Introduction
Migraine severity is often assessed by attack frequency, but this single dimension fails to reflect the full burden of disease. We aimed to validate a pragmatic multidimensional definition of severe migraine in a tertiary care setting.
Methods
We conducted an observational study including 96 consecutive adult migraine patients diagnosed according to ICHD-3 criteria at a tertiary pain center (Marseille, January–April 2024). Data collected included migraine days/month, HIT-6, MIGSEV, and HAD scores. Patients were categorized by frequency (< 8 vs. ≥ 8 days/month), HIT-6 (< 60, 60–64, ≥ 65), and MIGSEV grades (1–3).
Results
Median monthly frequency was 8 days. Patients with ≥ 8 days/month had significantly higher HIT-6 scores (P = 0.044). Among patients with < 8 days/month, both HIT-6 ≥ 65 and MIGSEV grade 3 identified individuals with greater functional disability and higher depressive symptoms, comparable to those in the high-frequency group. No demographic or comorbidity variables significantly distinguished severe cases.
Discussion
A multidimensional definition of severe migraine is supported: (A) ≥ 8 days/month, or (B) < 8 days/month with HIT-6 ≥ 65 and/or MIGSEV grade 3. This definition integrates frequency, functional impact, and perceived severity, providing a simple and reproducible framework to identify high-burden patients. It may improve preventive treatment decisions, referral to specialized care, and harmonization of research inclusion criteria.
{"title":"Refining the definition of severe migraine: Evidence from a prospective observational study","authors":"J. Henri , S. Redon , A. Donnet","doi":"10.1016/j.neurol.2025.12.002","DOIUrl":"10.1016/j.neurol.2025.12.002","url":null,"abstract":"<div><h3>Introduction</h3><div>Migraine severity is often assessed by attack frequency, but this single dimension fails to reflect the full burden of disease. We aimed to validate a pragmatic multidimensional definition of severe migraine in a tertiary care setting.</div></div><div><h3>Methods</h3><div>We conducted an observational study including 96 consecutive adult migraine patients diagnosed according to ICHD-3 criteria at a tertiary pain center (Marseille, January–April 2024). Data collected included migraine days/month, HIT-6, MIGSEV, and HAD scores. Patients were categorized by frequency (<<!--> <!-->8 vs. ≥<!--> <!-->8<!--> <!-->days/month), HIT-6 (<<!--> <!-->60, 60–64,<!--> <!-->≥<!--> <!-->65), and MIGSEV grades (1–3).</div></div><div><h3>Results</h3><div>Median monthly frequency was 8<!--> <!-->days. Patients with<!--> <!-->≥<!--> <!-->8<!--> <!-->days/month had significantly higher HIT-6 scores (<em>P</em> <!-->=<!--> <!-->0.044). Among patients with<!--> <!--><<!--> <!-->8<!--> <!-->days/month, both HIT-6<!--> <!-->≥<!--> <!-->65 and MIGSEV grade 3 identified individuals with greater functional disability and higher depressive symptoms, comparable to those in the high-frequency group. No demographic or comorbidity variables significantly distinguished severe cases.</div></div><div><h3>Discussion</h3><div>A multidimensional definition of severe migraine is supported: (A)<!--> <!-->≥<!--> <!-->8<!--> <!-->days/month, or (B)<!--> <!--><<!--> <!-->8<!--> <!-->days/month with HIT-6<!--> <!-->≥<!--> <!-->65 and/or MIGSEV grade 3. This definition integrates frequency, functional impact, and perceived severity, providing a simple and reproducible framework to identify high-burden patients. It may improve preventive treatment decisions, referral to specialized care, and harmonization of research inclusion criteria.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"182 1","pages":"Pages 92-96"},"PeriodicalIF":2.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145820586","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 : 2026-01-01DOI: 10.1016/j.neurol.2025.10.005
N. Minier , V. Olié , M. Consigny , J. Coadic , E. Nowak , Y. Béjot , S. Timsit , A. Gabet
Background
Clinical severity assessed by the National Institutes of Health Stroke Scale (NIHSS) score is not available in national hospital database.
Methods
Data from the French National Health Data System (SNDS) in the region of the Brest Stroke Registry (BSR), were used to calculate a probability of death among hospitalized ischemic strokes (IS) and intracerebral hemorrhages (ICH), relying on multivariable logistic regressions using available stroke/patient characteristics. Data from the BSR, have been used to derive equations putting in relation initial NIHSS and probability of death. These equations were used to estimate initial NIHSS based on probability of death. Data from the Dijon Stroke Registry were used to assess the concordance between predicted and observed initial stroke severity levels outside of the geographical area of its training dataset.
Results
In the years 2012–2019, the BSR reported 5883 IS and 816 ICH among people aged 16 or above, while 5623 IS and 787 ICH could be identified in the SNDS. Ten-day mortality was found to be the best proxy for initial stroke severity. In the Dijon Stroke Registry, among 1,254 IS, our algorithm predicted 53.0% events of minor severity (initial NIHSS ≤ 4), 38.6% events of intermediate severity (5–20), and 8.5% events of high severity (≥ 21), compared to known prevalence of 53.0%, 38.0%, and 9.0%, respectively. No reliable predictions could be made for ICH.
Conclusion
The possible estimation of prevalence of initial stroke severity levels with satisfying performances in healthcare database is likely to improve epidemiological surveillance of this disease at national and local level.
{"title":"Estimation of initial stroke severity in hospital databases using NIHSS score from population-based stroke registries","authors":"N. Minier , V. Olié , M. Consigny , J. Coadic , E. Nowak , Y. Béjot , S. Timsit , A. Gabet","doi":"10.1016/j.neurol.2025.10.005","DOIUrl":"10.1016/j.neurol.2025.10.005","url":null,"abstract":"<div><h3>Background</h3><div>Clinical severity assessed by the National Institutes of Health Stroke Scale (NIHSS) score is not available in national hospital database.</div></div><div><h3>Methods</h3><div>Data from the French National Health Data System (SNDS) in the region of the Brest Stroke Registry (BSR), were used to calculate a probability of death among hospitalized ischemic strokes (IS) and intracerebral hemorrhages (ICH), relying on multivariable logistic regressions using available stroke/patient characteristics. Data from the BSR, have been used to derive equations putting in relation initial NIHSS and probability of death. These equations were used to estimate initial NIHSS based on probability of death. Data from the Dijon Stroke Registry were used to assess the concordance between predicted and observed initial stroke severity levels outside of the geographical area of its training dataset.</div></div><div><h3>Results</h3><div>In the years 2012–2019, the BSR reported 5883 IS and 816 ICH among people aged 16 or above, while 5623 IS and 787 ICH could be identified in the SNDS. Ten-day mortality was found to be the best proxy for initial stroke severity. In the Dijon Stroke Registry, among 1,254 IS, our algorithm predicted 53.0% events of minor severity (initial NIHSS<!--> <!-->≤<!--> <!-->4), 38.6% events of intermediate severity (5–20), and 8.5% events of high severity (≥ 21), compared to known prevalence of 53.0%, 38.0%, and 9.0%, respectively. No reliable predictions could be made for ICH.</div></div><div><h3>Conclusion</h3><div>The possible estimation of prevalence of initial stroke severity levels with satisfying performances in healthcare database is likely to improve epidemiological surveillance of this disease at national and local level.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"182 1","pages":"Pages 49-58"},"PeriodicalIF":2.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146044088","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 : 2025-12-29DOI: 10.1016/j.neurol.2025.11.008
J-B Davion, C Tard, L Fragoso, A Wilu-Wilu, L Defebvre, X Delbeuck
Introduction: Myotonic dystrophy type 1 (DM1) is a genetic multisystemic disorder, affecting the muscles but also the brain and other organs, and impacting quality of life (QoL). Most of previous studies focused on health-related QoL and its predictors, which might restrict the possibility to observe the consequences of more general factors on QoL.
Methods: We studied QoL from a more global point of view in adult non-congenital DM1 patients included in the DM-VASCOG cohort using the World Health Organization Quality of Life Brief Version (WHOQOL-BREF) questionnaire, which discriminates four domains (physical health, psychological state, social relationships, and environment). Social participation was also evaluated using a questionnaire designed to assess the frequency of and the degree of satisfaction with the patient's involvement in social activities. Associations of these questionnaires with demographic, DM1-related, neuropsychological and behavioral measures were analyzed.
Results: Among our 122 DM1 patients, lower scores for the physical QoL were observed compared to other dimensions (P<0.001). QoL predictors were different among the physical (motor function, fatigue), psychological (anxiety, depression), social (education, depression) and environmental (anxiety, depression, fatigue) dimensions. Frequency of social participation in DM1 patients was associated with executive functions (Stroop test), while satisfaction with social participation was associated with depression and fatigue.
Conclusion: The different dimensions of QoL and social participation in adult DM1 are associated with different modifiable factors. The effect on QoL of interventions focusing on these factors should be studied in future DM1 trials.
{"title":"Predictors of quality of life and social participation in myotonic dystrophy type 1.","authors":"J-B Davion, C Tard, L Fragoso, A Wilu-Wilu, L Defebvre, X Delbeuck","doi":"10.1016/j.neurol.2025.11.008","DOIUrl":"https://doi.org/10.1016/j.neurol.2025.11.008","url":null,"abstract":"<p><strong>Introduction: </strong>Myotonic dystrophy type 1 (DM1) is a genetic multisystemic disorder, affecting the muscles but also the brain and other organs, and impacting quality of life (QoL). Most of previous studies focused on health-related QoL and its predictors, which might restrict the possibility to observe the consequences of more general factors on QoL.</p><p><strong>Methods: </strong>We studied QoL from a more global point of view in adult non-congenital DM1 patients included in the DM-VASCOG cohort using the World Health Organization Quality of Life Brief Version (WHOQOL-BREF) questionnaire, which discriminates four domains (physical health, psychological state, social relationships, and environment). Social participation was also evaluated using a questionnaire designed to assess the frequency of and the degree of satisfaction with the patient's involvement in social activities. Associations of these questionnaires with demographic, DM1-related, neuropsychological and behavioral measures were analyzed.</p><p><strong>Results: </strong>Among our 122 DM1 patients, lower scores for the physical QoL were observed compared to other dimensions (P<0.001). QoL predictors were different among the physical (motor function, fatigue), psychological (anxiety, depression), social (education, depression) and environmental (anxiety, depression, fatigue) dimensions. Frequency of social participation in DM1 patients was associated with executive functions (Stroop test), while satisfaction with social participation was associated with depression and fatigue.</p><p><strong>Conclusion: </strong>The different dimensions of QoL and social participation in adult DM1 are associated with different modifiable factors. The effect on QoL of interventions focusing on these factors should be studied in future DM1 trials.</p>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145865156","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 : 2025-12-26DOI: 10.1016/j.neurol.2025.12.003
E Retailleau, N Dorison, G Poulen, A Roubertie, O Trouillard, J Baik, E Conabady, M-C François-Heude, E Chauvet-Piat, M-A Spitz, C Ravelli, P Vayssière, C Nilles, C Desjardins, C Dubacq, E Roze
Introduction: Pathogenic variants in ADCY5 cause mixed hyperkinetic movement disorders (MxMD-ADCY5) that can be occasionally refractory to medical treatment. While deep brain stimulation of the globus pallidus internus (GPi-DBS) has been previously used, knowledge on its indication, efficacy and safety is poor and mainly based on anecdotal reports and short case series.
Methods: We retrospectively reviewed clinical, genetic, therapeutic, and surgical data from patients with ADCY5-related movement disorders who underwent GPi-DBS, operated in two French expert centres or previously published.
Results: We obtained data from 23 patients for analysis. There were two distinct indications for GPi-DBS. The first group consisted of patients with long-standing, pharmacoresistant hyperkinetic movements. The second group included patients with acute motor exacerbations - fulfilling criteria for status dystonicus - and conceptually aligned with the recently proposed framework of severe acute motor exacerbation (SAME). Overall, GPi-DBS was safe and led to mild-to-moderate improvement of the motor condition in the two groups of patients.
Conclusion: GPi-DBS can be considered as a relevant therapeutic option for MxMD-ADCY5 in case of pharmacological treatment failure both in patients with chronic motor impairment and those with paroxysmal exacerbations meeting criteria for SAME. Given the response to DBS in the two groups of patients, it is plausible that MxMD-ADCY5 reflects basal ganglia dysfunction mediated by dysregulated cAMP signalling, and that DBS acts by restoring homeostatic inhibitory control in these circuits.
{"title":"Deep brain stimulation in patients with mixed movement disorders linked to ADCY5.","authors":"E Retailleau, N Dorison, G Poulen, A Roubertie, O Trouillard, J Baik, E Conabady, M-C François-Heude, E Chauvet-Piat, M-A Spitz, C Ravelli, P Vayssière, C Nilles, C Desjardins, C Dubacq, E Roze","doi":"10.1016/j.neurol.2025.12.003","DOIUrl":"https://doi.org/10.1016/j.neurol.2025.12.003","url":null,"abstract":"<p><strong>Introduction: </strong>Pathogenic variants in ADCY5 cause mixed hyperkinetic movement disorders (MxMD-ADCY5) that can be occasionally refractory to medical treatment. While deep brain stimulation of the globus pallidus internus (GPi-DBS) has been previously used, knowledge on its indication, efficacy and safety is poor and mainly based on anecdotal reports and short case series.</p><p><strong>Methods: </strong>We retrospectively reviewed clinical, genetic, therapeutic, and surgical data from patients with ADCY5-related movement disorders who underwent GPi-DBS, operated in two French expert centres or previously published.</p><p><strong>Results: </strong>We obtained data from 23 patients for analysis. There were two distinct indications for GPi-DBS. The first group consisted of patients with long-standing, pharmacoresistant hyperkinetic movements. The second group included patients with acute motor exacerbations - fulfilling criteria for status dystonicus - and conceptually aligned with the recently proposed framework of severe acute motor exacerbation (SAME). Overall, GPi-DBS was safe and led to mild-to-moderate improvement of the motor condition in the two groups of patients.</p><p><strong>Conclusion: </strong>GPi-DBS can be considered as a relevant therapeutic option for MxMD-ADCY5 in case of pharmacological treatment failure both in patients with chronic motor impairment and those with paroxysmal exacerbations meeting criteria for SAME. Given the response to DBS in the two groups of patients, it is plausible that MxMD-ADCY5 reflects basal ganglia dysfunction mediated by dysregulated cAMP signalling, and that DBS acts by restoring homeostatic inhibitory control in these circuits.</p>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145846846","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 : 2025-12-01DOI: 10.1016/j.neurol.2025.09.004
J. Dumurgier , B. Défontaines , K. Gallouj , B. Garcin , A. Garnier-Crussard , J. Lagarde , J.-M. Pauly , A. Rollin Sillaire , I. Rouch-Leroyer , M. Sarazin , M. Verny , D. Wallon
Alzheimer's disease (AD) is the most common neurodegenerative disorder and the leading cause of major neurocognitive disorder in older adults. Its diagnosis has evolved from clinical to clinico-biological criteria, integrating biomarkers such as beta-amyloid and phosphorylated tau in cerebrospinal fluid or specific positron emission tomography (PET) imaging. Recent therapeutic advances, including anti-amyloid immunotherapies, highlight the need for early and accurate diagnosis. Clinical presentation is heterogeneous and may include amnestic or non-amnestic forms. Diagnosis should be suspected in patients with progressive cognitive decline and confirmed through neuropsychological assessment and biomarker testing. Blood-based biomarkers are promising but not yet validated for routine use. Magnetic resonance imaging (MRI) is recommended for all patients with recent cognitive decline. The role of general practitioners in early detection is critical. These recommendations, developed by the French federation of memory clinics, provide guidance on diagnosis stages, biomarker indications, first-line assessments, referral criteria, and communication of diagnosis. They aim to standardize clinical practice and support timely, individualized care.
{"title":"Diagnosis of Alzheimer's disease: Recommendations from the French Federation of Memory Clinics","authors":"J. Dumurgier , B. Défontaines , K. Gallouj , B. Garcin , A. Garnier-Crussard , J. Lagarde , J.-M. Pauly , A. Rollin Sillaire , I. Rouch-Leroyer , M. Sarazin , M. Verny , D. Wallon","doi":"10.1016/j.neurol.2025.09.004","DOIUrl":"10.1016/j.neurol.2025.09.004","url":null,"abstract":"<div><div>Alzheimer's disease (AD) is the most common neurodegenerative disorder and the leading cause of major neurocognitive disorder in older adults. Its diagnosis has evolved from clinical to clinico-biological criteria, integrating biomarkers such as beta-amyloid and phosphorylated tau in cerebrospinal fluid or specific positron emission tomography (PET) imaging. Recent therapeutic advances, including anti-amyloid immunotherapies, highlight the need for early and accurate diagnosis. Clinical presentation is heterogeneous and may include amnestic or non-amnestic forms. Diagnosis should be suspected in patients with progressive cognitive decline and confirmed through neuropsychological assessment and biomarker testing. Blood-based biomarkers are promising but not yet validated for routine use. Magnetic resonance imaging (MRI) is recommended for all patients with recent cognitive decline. The role of general practitioners in early detection is critical. These recommendations, developed by the French federation of memory clinics, provide guidance on diagnosis stages, biomarker indications, first-line assessments, referral criteria, and communication of diagnosis. They aim to standardize clinical practice and support timely, individualized care.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 10","pages":"Pages 1021-1029"},"PeriodicalIF":2.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145207523","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 : 2025-12-01DOI: 10.1016/j.neurol.2025.09.008
D. Sablot , S. Rivas Lamelo , P. Renou , N. Nasr , P. Lavallee , C. Plantard , K. Blanc-Lasserre , V. Domigo , I. Sibon , Y. Béjot , C. Cordonnier , S. Alamowitch
Introduction
Transient ischemic attacks (TIAs) are associated with a high risk of early ischemic stroke. Timely and organized care is essential to prevent recurrence, as recommended by national guidelines. This survey aimed to describe current TIA management practices in French Stroke Units (SUs) and identify gaps relative to national and international recommendations.
Method
A declarative survey was sent by email to 139 French SU managers. Six reminders were sent to non-responders and partial responders. A link to the survey was also available on the French Neurovascular Society website from March 18 to November 1, 2023.
Results
A total of 123 SUs (88.5%) responded. A TIA clinic was identified in 15 SU (12% of respondents). In the other 108 SUs, no specific written procedure (63%), or a written procedure was applied at the SU (32%), and the corresponding healthcare territory (5%). The median time from admission to extra- and intra-cervical vessel imaging was 6 hours (IQR: 3–24), but in 25% of SUs, it was not provided in the first 24 hours after hospitalization. The median times to transthoracic echocardiogram and transesophageal echocardiogram were 4 days (IQR: 2–7) and 7 days (IQR: 4–14), respectively.
Conclusions
This study shows that dedicated TIA clinics are uncommon in France, but they are associated with faster diagnostic work-ups and shorter hospital stays. Expanding such structured care models within SUs could enhance the timeliness, consistency, and quality of TIA management nationwide, ultimately reducing the risk of recurrent stroke.
{"title":"Transient ischemic attack care pathways in stroke units: Findings from a French nationwide survey","authors":"D. Sablot , S. Rivas Lamelo , P. Renou , N. Nasr , P. Lavallee , C. Plantard , K. Blanc-Lasserre , V. Domigo , I. Sibon , Y. Béjot , C. Cordonnier , S. Alamowitch","doi":"10.1016/j.neurol.2025.09.008","DOIUrl":"10.1016/j.neurol.2025.09.008","url":null,"abstract":"<div><h3>Introduction</h3><div>Transient ischemic attacks (TIAs) are associated with a high risk of early ischemic stroke. Timely and organized care is essential to prevent recurrence, as recommended by national guidelines. This survey aimed to describe current TIA management practices in French Stroke Units (SUs) and identify gaps relative to national and international recommendations.</div></div><div><h3>Method</h3><div>A declarative survey was sent by email to 139 French SU managers. Six reminders were sent to non-responders and partial responders. A link to the survey was also available on the French Neurovascular Society website from March 18 to November 1, 2023.</div></div><div><h3>Results</h3><div>A total of 123 SUs (88.5%) responded. A TIA clinic was identified in 15 SU (12% of respondents). In the other 108 SUs, no specific written procedure (63%), or a written procedure was applied at the SU (32%), and the corresponding healthcare territory (5%). The median time from admission to extra- and intra-cervical vessel imaging was 6<!--> <!-->hours (IQR: 3–24), but in 25% of SUs, it was not provided in the first 24<!--> <!-->hours after hospitalization. The median times to transthoracic echocardiogram and transesophageal echocardiogram were 4<!--> <!-->days (IQR: 2–7) and 7<!--> <!-->days (IQR: 4–14), respectively.</div></div><div><h3>Conclusions</h3><div>This study shows that dedicated TIA clinics are uncommon in France, but they are associated with faster diagnostic work-ups and shorter hospital stays. Expanding such structured care models within SUs could enhance the timeliness, consistency, and quality of TIA management nationwide, ultimately reducing the risk of recurrent stroke.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"181 10","pages":"Pages 998-1007"},"PeriodicalIF":2.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145452898","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}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号