Pub Date : 2026-01-01DOI: 10.1016/j.neurol.2025.11.007
M. Sýkora , S. Baranová , E. Parobková , T. Moško , J. Keller , K. Holada , R. Rusina , R. Matěj
Gerstmann–Sträussler–Scheinker syndrome is an extremely rare hereditary human prion disease caused by distinct mutations in the prion protein-encoding gene and is frequently associated with a positive family history. The disease typically presents with progressive cerebellar symptoms such as gaze apraxia with limb ataxia and axial ataxia; thus, the diagnostic process is often challenging due to nonspecific clinical presentation. We present a case of a 73-year-old patient with no family history of dementia and cerebellar symptomatology during the course of rapidly progressing dementia. Owing to the clinical suspicion of prion disease, antemortem analysis of cerebrospinal fluid using a real-time quaking-induced conversion (RT-QuIC) assay was performed, with positive results. Postmortem histopathological examination confirmed a familiar form of human prion disease with concomitant asymptomatic tauopathy. An additional finding was a novel 6 octapeptide repeat insertion mutation in the prion gene. Familiar cases with an increasing number of repeated insertions seem to be associated with a longer overall disease course, milder clinical deterioration and often false-negative RT-QuIC results. The performance of RT-QuIC in inherited prion diseases may vary. Our case, involving a 6 octapeptide repeat insertion mutation, is particularly noteworthy due to the rapidly progressive clinical course and positive RT-QuIC results in both antemortem and postmortem tissue analyses.
{"title":"Gerstmann–Sträussler–Scheinker syndrome neuropathology in a Creutzfeldt–Jakob disease-like phenotype patient caused by a novel 6-OPRI sequence in the PRNP gene","authors":"M. Sýkora , S. Baranová , E. Parobková , T. Moško , J. Keller , K. Holada , R. Rusina , R. Matěj","doi":"10.1016/j.neurol.2025.11.007","DOIUrl":"10.1016/j.neurol.2025.11.007","url":null,"abstract":"<div><div>Gerstmann–Sträussler–Scheinker syndrome is an extremely rare hereditary human prion disease caused by distinct mutations in the prion protein<em>-encoding g</em>ene and is frequently associated with a positive family history. The disease typically presents with progressive cerebellar symptoms such as gaze apraxia with limb ataxia and axial ataxia; thus, the diagnostic process is often challenging due to nonspecific clinical presentation. We present a case of a 73-year-old patient with no family history of dementia and cerebellar symptomatology during the course of rapidly progressing dementia. Owing to the clinical suspicion of prion disease, <em>antemortem</em> analysis of cerebrospinal fluid using a real-time quaking-induced conversion (RT-QuIC) assay was performed, with positive results<em>. Postmortem</em> histopathological examination confirmed a familiar form of human prion disease with concomitant asymptomatic tauopathy. An additional finding was a novel 6 octapeptide repeat insertion mutation in the prion gene. Familiar cases with an increasing number of repeated insertions seem to be associated with a longer overall disease course, milder clinical deterioration and often false-negative RT-QuIC results. The performance of RT-QuIC in inherited prion diseases may vary. Our case, involving a 6 octapeptide repeat insertion mutation, is particularly noteworthy due to the rapidly progressive clinical course and positive RT-QuIC results in both <em>antemortem</em> and <em>postmortem</em> tissue analyses.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"182 1","pages":"Pages 97-105"},"PeriodicalIF":2.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145846223","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.2025.11.004
E.K. Van Obberghen , R. Fabre , L. Bailly , M. Lanteri-Minet
The burden of cluster headache (CH) requires better knowledge of management to improve it.
Objectives
To describe changes in the real-world management of CH treated with subcutaneous sumatriptan and/or oxygen in France over the period 2014–2024.
Methods
This is an analysis of two open data databases from the French Social Health Insurance (‘Open Medic’ and ‘Open LPP’), providing an annual estimate from 2014 to 2024 of the delivery of subcutaneous sumatriptan and/or oxygen, the number of beneficiaries of these treatments and their socio-demographic profile.
Results
Annual deliveries of subcutaneous sumatriptan increased from 286,999 boxes in 2014 to 454,275 boxes in 2024 (58.2% increase). Beneficiaries of subcutaneous sumatriptan increased from 13,638 individuals in 2014 to 19,109 individuals in 2024 (40.1% increase). Annual deliveries of package for the weekly use of oxygen therapy equipment increased from 224,143 in 2014 to 790,768 in 2024 (2.5 times more). Beneficiaries of oxygen for CH increased from 7493 individuals in 2014 to 22,346 individuals in 2024 (2 times more). Over the period 2014–2024, the male to female ratio decreased from 2.3/1 to 1.5/1 and from 1.5/1 to 0.8/1 for individuals receiving subcutaneous sumatriptan and individuals receiving oxygen respectively.
Conclusions
The delivery of subcutaneous sumatriptan and oxygen increased from 2014 to 2024, reflecting an improvement in the management of cluster headache in France. Nevertheless, given the one year-prevalence of this disease and the number of people expected to suffer from it, the number of people benefiting from these two treatments in 2024 indicates that there are still unmet needs. This study confirms the increase in the number of women treated for cluster headache observed over the last twenty years.
{"title":"Trends in the real-world management of cluster headache patients treated by subcutaneous sumatriptan and/or oxygen in France – An analysis of the French National Social Security System Open Data over eleven years (2014–2024)","authors":"E.K. Van Obberghen , R. Fabre , L. Bailly , M. Lanteri-Minet","doi":"10.1016/j.neurol.2025.11.004","DOIUrl":"10.1016/j.neurol.2025.11.004","url":null,"abstract":"<div><div>The burden of cluster headache (CH) requires better knowledge of management to improve it.</div></div><div><h3>Objectives</h3><div>To describe changes in the real-world management of CH treated with subcutaneous sumatriptan and/or oxygen in France over the period 2014–2024.</div></div><div><h3>Methods</h3><div>This is an analysis of two open data databases from the French Social Health Insurance (‘Open Medic’ and ‘Open LPP’), providing an annual estimate from 2014 to 2024 of the delivery of subcutaneous sumatriptan and/or oxygen, the number of beneficiaries of these treatments and their socio-demographic profile.</div></div><div><h3>Results</h3><div>Annual deliveries of subcutaneous sumatriptan increased from 286,999 boxes in 2014 to 454,275 boxes in 2024 (58.2% increase). Beneficiaries of subcutaneous sumatriptan increased from 13,638 individuals in 2014 to 19,109 individuals in 2024 (40.1% increase). Annual deliveries of package for the weekly use of oxygen therapy equipment increased from 224,143 in 2014 to 790,768 in 2024 (2.5 times more). Beneficiaries of oxygen for CH increased from 7493 individuals in 2014 to 22,346 individuals in 2024 (2 times more). Over the period 2014–2024, the male to female ratio decreased from 2.3/1 to 1.5/1 and from 1.5/1 to 0.8/1 for individuals receiving subcutaneous sumatriptan and individuals receiving oxygen respectively.</div></div><div><h3>Conclusions</h3><div>The delivery of subcutaneous sumatriptan and oxygen increased from 2014 to 2024, reflecting an improvement in the management of cluster headache in France. Nevertheless, given the one year-prevalence of this disease and the number of people expected to suffer from it, the number of people benefiting from these two treatments in 2024 indicates that there are still unmet needs. This study confirms the increase in the number of women treated for cluster headache observed over the last twenty years.</div></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"182 1","pages":"Pages 75-81"},"PeriodicalIF":2.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145775593","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.2025.11.001
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}
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