European Journal of Neurology最新文献

{"title":"Anti-GAD Antibodies as an Etiology of Cerebral Cortical Encephalitis: 2 Case Reports","authors":"Bruno Lemarchant,&nbsp;Cristina Birzu,&nbsp;Louis Couzyn,&nbsp;Stéphanie Rogeau,&nbsp;Delphine Leclercq,&nbsp;Hélène Zéphir,&nbsp;Dimitri Psimaras","doi":"10.1111/ene.70096","DOIUrl":"https://doi.org/10.1111/ene.70096","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Cerebral cortical encephalitis (CCE) has been recently described as an entity associated with anti-MOG antibodies and, in some cases, of anti-GABA_AR encephalitis. No clear association with other antibodies has been reported to date. We describe two cases of patients presenting clinical and radiological features of diffuse cortical encephalitis associated with anti-GAD antibodies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>In two patients with CCE, screening for the presence of anti-GAD and other antibodies was performed, along with a complete workup for alternative diagnoses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Two patients showing clinical and radiological features of CCE were tested positive for anti-GAD antibodies. MRI scan revealed multiple bilateral areas of cortico-subcortical FLAIR hyperintensities. They were both tested negative for anti-MOG, anti-NMDAr, and anti-GABA_AR antibodies. An ovarian teratoma was discovered in patient 1. Clinical and radiological evolution was favorable in both patients after cumulated therapies in the acute phase.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>CCE could be a new manifestation of anti-GAD antibodies, with distinct features compared to anti-MOG antibodies related to CCE. We recommend screening for anti-GAD antibodies in the context of CCE, especially in case of atypical features for MOG antibodies-associated disease (MOGAD).</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 3","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70096","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143521832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Can Non-Thymomatous Late-Onset Myasthenia Gravis Benefit From Thymectomy? A Systematic Review and Meta-Analysis","authors":"Jiaxin Chen,&nbsp;Chunhua Su,&nbsp;Huiyu Feng,&nbsp;Henry J. Kaminski","doi":"10.1111/ene.70048","DOIUrl":"https://doi.org/10.1111/ene.70048","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Thymectomy is beneficial for treating early-onset acetylcholine receptor antibody-positive myasthenia gravis (MG); however, its effects on late-onset MG (LOMG) remain less well understood. Given the increasing incidence of MG among the population 50 years old and above, addressing the question of whether thymectomy is effective for this age group is critically important. This study aimed to assess the present evidence for the efficacy of thymectomy in LOMG and identify potential characteristics that may predict the treatment response.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Four electronic databases were searched from their inception to September 10, 2024. Six studies with both thymectomy and medical therapies in LOMG patients, along with another 14 studies with only a surgical group, were enrolled in the meta-analysis. The primary outcome was the response (remission and minimal manifestations status) to thymectomy in LOMG.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In LOMG, response in the surgical group was greater than in the medical therapies alone group (OR = 1.42 [0.86–2.35], <i>p</i> = 0.169), but not significantly. However, subgroup analysis showed that when the age of MG onset was ≥ 45 years old or the age at thymectomy was ≥ 50 years old, thymectomy appeared better than medical therapies alone (OR = 1.92 [1.06–3.48], <i>p</i> = 0.031). Across all 20 studies, 34% (24%–44%) of LOMG patients improved with thymectomy. A higher response was observed in patients with a preoperative duration of less than 3 years from diagnosis [39% (16%–65%), <i>p</i> &lt; 0.001, <i>q</i> &lt; 0.001].</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Thymectomy may be a potentially effective treatment for LOMG, particularly in patients who undergo the procedure soon after diagnosis. A randomized controlled study for LOMG patients is needed.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 3","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70048","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143521882","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cortisol and 10-Year Cognitive Decline in Older People From the General Population","authors":"Simone Amendola,&nbsp;Sami Ouanes,&nbsp;Leonardo Zullo,&nbsp;Miriam Rabl,&nbsp;Giorgio Pistis,&nbsp;Enrique Castelao,&nbsp;Pedro Marques-Vidal,&nbsp;Julien Vaucher,&nbsp;Armin von Gunten,&nbsp;Martin Preisig,&nbsp;Julius Popp","doi":"10.1111/ene.70056","DOIUrl":"https://doi.org/10.1111/ene.70056","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The present study examined bidirectional effects between salivary cortisol and cognitive functioning over time. Furthermore, the role of the APOE-ɛ4 allele as a moderator of the associations was investigated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Using a prospective population-based study, we analyzed data from 752 older adults followed up over 10 years. A random-intercept Cross-Lagged Panel Model was applied to each combination of one cortisol measure (at waking time, 30 min after waking, 11 am, 8 pm, cortisol awakening response, total daily output, and diurnal slope) and one cognitive measure (primary outcome: Clinical Dementia Rating Scale sum of boxes score, CDR-SB; secondary outcome: Mini-Mental State Examination) resulting in 14 (7 × 2) models.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Between-person effects pointed out that a higher cortisol level at 11 am was associated with increased CDR-SB scores, and a higher cortisol awakening response was associated with decreased CDR-SB scores. Within-person effects indicated that cortisol levels at 11 am and 8 pm, and total daily cortisol output were associated with subsequent lower CDR-SB scores. The APOE-ɛ4 allele did not moderate the relationship between cortisol and cognitive functioning.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our findings revealed within-person associations between higher cortisol levels and better cognitive functioning at the subsequent follow-up, suggesting cortisol protective effects for cognitive decline.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 3","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70056","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143521884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Coagulation Factors and White Matter Hyperintensities in Middle-Aged Women With and Without Migraine and Ischemic Stroke","authors":"Mariam Ali,&nbsp;Nelleke van der Weerd,&nbsp;Hendrikus J. A. van Os,&nbsp;Annelise E. Wilms,&nbsp;Ghislaine Holswilder,&nbsp;Katie M. Linstra,&nbsp;Thijs W. van Harten,&nbsp;Suzanne C. Cannegieter,&nbsp;Bob Siegerink,&nbsp;Bart J. M. van Vlijmen,&nbsp;L. Renee Ruhaak,&nbsp;Nyika D. Kruyt,&nbsp;Mark C. Kruit,&nbsp;Antoinette Maassen Van Den Brink,&nbsp;Gisela M. Terwindt,&nbsp;Marieke J. H. Wermer,&nbsp;The CREW Consortium","doi":"10.1111/ene.70063","DOIUrl":"https://doi.org/10.1111/ene.70063","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Migraine increases the risk of ischemic stroke and white matter hyperintensities (WMH), especially in women. Underlying shared mechanisms may include endothelial activation and hypercoagulability. We assessed these markers in middle-aged women with and without migraine and ischemic stroke to explore their role in WMH development.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We cross-sectionally measured fibrinogen and von Willebrand factor antigen (VWF:Ag) levels as markers of endothelial activation, and factor (F)IX and FXI activity (FXI:C) as markers of hypercoagulability in four groups of women aged 40–60 years with (1)ischemic stroke, (2)migraine, (3)both ischemic stroke and migraine, and (4)no stroke or migraine. Multivariable linear regression estimated mean differences in coagulation factor levels between groups 1 and 3, with group 4 as the reference.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 166 women (mean age:51 years), (1) 45 had ischemic stroke, (2) 38 had migraine, (3) 48 had both, and (4) 35 had no stroke or migraine. Mean fibrinogen, FIX, and FXI:C levels were similar in all groups compared with group 4. VWF:Ag levels were higher in the ischemic stroke with migraine group (170 [57]%; adjusted <i>β</i> = 31%; 95% CI = 6%–56%) compared with group 4, but not in the other groups. There was no association between coagulation factors and WMH volume in any group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In women with both stroke and migraine, VWF:Ag levels were increased, while fibrinogen, FIX, and FXI:C were not. This suggests that endothelial activation might be more relevant than a procoagulant state alone in the pathophysiology of ischemic stroke in women with migraine. Coagulation factors did not seem to be related to WMH volume, suggesting other mechanisms may be involved in their development.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 3","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70063","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143521883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sex-Related Differences in Outcomes of Endovascular Treatment in Large Vessel Occlusion Stroke—Analyses From the German Stroke Registry-Endovascular Treatment","authors":"Constanze Single,&nbsp;Annerose Mengel,&nbsp;Kornelia Laichinger,&nbsp;Jennifer Sartor-Pfeiffer,&nbsp;Nadja Selo,&nbsp;Florian Hennersdorf,&nbsp;Benjamin Bender,&nbsp;Milani Deb-Chatterji,&nbsp;Götz Thomalla,&nbsp;Joshua Mbroh,&nbsp;Sven Poli,&nbsp;Ulf Ziemann,&nbsp;Ulrike Ernemann,&nbsp;Katharina Feil,&nbsp;German Stroke Registry—Endovascular Treatment (GSR)","doi":"10.1111/ene.70092","DOIUrl":"https://doi.org/10.1111/ene.70092","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Sex-related differences in acute ischemic stroke may affect outcomes, yet evidence remains inconsistent. This large-scale study investigated sex-related differences in clinical presentation, peri-interventional parameters, and outcomes after endovascular thrombectomy (EVT) for large vessel occlusion (LVO) using data from the German Stroke Registry—Endovascular Treatment (GSR-ET).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We analyzed 11.896 EVT patients (52.2% female) from the GSR-ET (June 2015–December 2021) comparing clinical characteristics, treatment details, and outcomes by sex. Two propensity score matchings (PSM) were applied: (1) logistic regression model with a caliper width of 0.1 on age, pre-stroke modified Rankin Scale (pmRS), and National Institutes of Health Stroke Scale at admission, and (2) 1:1 nearest neighbor matching with a caliper of 0.01. Primary outcomes were good (mRS 0–2) and excellent (mRS 0–1) outcomes at discharge and 90-day follow-up.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Women were older (76.3 ± 12.7 vs. 70.2 ± 12.9 years, <i>p</i> &lt; 0.001) and had higher pre-stroke disability (median pmRS 0 (0, 2) vs. 0 (0, 1), <i>p</i> &lt; 0.001). Cardioembolic strokes were more frequent in women, even after PSM. Despite this, women had better odds of achieving good outcomes at discharge (adjusted OR 1.20, 95% CI 1.04–1.38, <i>p</i> = 0.013), but not at follow-up (OR 0.91, 95% CI 0.78–1.05, <i>p</i> = 0.193). Both PSM analyses confirmed these findings.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>While women demonstrated better short-term functional outcomes after EVT, these benefits diminished in follow-up. The persistence of cardioembolic stroke in women suggests potential sex-specific mechanisms. Understanding and addressing sex-related differences in stroke is essential to optimize acute stroke care and improve outcomes. Future studies should explore biological and socio-economic factors influencing sex-related differences.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Trial Registration</h3>\u0000 \u0000 <p>ClinicalTrials.gov identifier: NCT03356392</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 3","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70092","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143490034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Elevated Serum MCP-2 and TARC Associated With Increased Risk of Death in Guamanian ALS Patients","authors":"Risana N. Chowdhury,&nbsp;Mus'ab A. Azam,&nbsp;Suhaib A. Azam,&nbsp;Shteynman Lana,&nbsp;Erin N. Culver,&nbsp;Ralph M. Garruto,&nbsp;Katherine Wander","doi":"10.1111/ene.70088","DOIUrl":"https://doi.org/10.1111/ene.70088","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>This study explores the relationship between inflammation and longevity in a high-incidence focus of amyotrophic lateral sclerosis (ALS) in post-WWII Guam. Characteristics of this focus include the sudden appearance of the disease in high numbers and the unusually long lifespan (without medical interventions) seen in some cases. We used bio-banked specimens to evaluate the relationship between serum immunoregulators and survival time.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We evaluated sera from 69 Guam ALS cases collected within 2 years of symptom onset by NIH researchers from 1950 to 1983 for 11 immunoregulators via ELISA (CRP, eotaxin-1, RANTES, IL-6, IL-8, IL-10, IFN-γ, IP-10, MCP-1, MCP-2 and TARC). Factor analysis identified two factors responsible for ~68% of the variation in the data. We estimated Cox proportional hazards models to identify immunoregulators associated with time to death.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Each 10-unit increase in factor 2 cytokines (MCP-2 and TARC) was associated with a 38% increase in the risk of death (HR: 1.38; 95% CI: 1.19, 1.65; <i>p</i>: 0.00). <i>Discussion</i>: Like sporadic ALS cases worldwide, inflammation is associated with a shortened lifespan in Guamanian ALS; more specifically, our findings suggest serum levels of MCP-2 and TARC at onset may predict disease duration. Further investigation is needed to determine the role of these immunoregulators in disease prognosis and as targets for diagnostic and therapeutic interventions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 3","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70088","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143481522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Teenager Febrile Dystextia","authors":"Florian Perrin de Brichambaut,&nbsp;Gabrielle Dupuy,&nbsp;Eugénie Sarda,&nbsp;Nathalie Boddaert,&nbsp;Charles-Joris Roux,&nbsp;Ivana Dabaj,&nbsp;Stéphane Marret,&nbsp;Mélodie Aubart,&nbsp;Isabelle Desguerre","doi":"10.1111/ene.70059","DOIUrl":"https://doi.org/10.1111/ene.70059","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Dystextia refers to a kind of aphasia. It is the inability or the difficulty to text with a mobile phone. It has been described 15 years ago in central neurologic pathologies like stroke, migraine with aura, neurologic tumor disease.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case presentation</h3>\u0000 \u0000 <p>We report the case of a 15-year-old boy who presented a febrile dystextia with acute insular lobes lesions in MRI. Human Simplex Virus 1 and lymphocytosis were present in the CSF and intravenous treatment with aciclovir has been initiated. Clinical signs were completely reversible.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>This case enhances the importance of emerging symptoms related to the common use of 21st century technology—such as smartphones—especially among younger patients. It also corroborates the association between the insular lobe and dystextia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This is the first report of herpetic meningoencephalitis revealed through febrile dystextia in a child.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 3","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70059","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143481489","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel PKD1 Mutation (c.G10086T) Drives High Intracranial Aneurysm Risk in Autosomal Dominant Polycystic Kidney Disease","authors":"Lili Gao,&nbsp;Min Lin,&nbsp;Chenghan Wu,&nbsp;Yuansheng Liao,&nbsp;Zuopeng Lin,&nbsp;Xiaohua Yan,&nbsp;Sheng Lin,&nbsp;Yinzhou Wang,&nbsp;Jing Chen,&nbsp;Zhaocong Zheng,&nbsp;Jushan Lin,&nbsp;Sheng Zhang,&nbsp;Jianhua Guan,&nbsp;Yan Qiu,&nbsp;Jilian Liao,&nbsp;Lihua Wu","doi":"10.1111/ene.70086","DOIUrl":"https://doi.org/10.1111/ene.70086","url":null,"abstract":"<div>\u0000 <section>\u0000 <h3> Background</h3>\u0000 <p>Autosomal dominant polycystic kidney disease (ADPKD) is frequently complicated by intracranial aneurysms (IAs). However, the genetic factors driving the elevated IA risk in ADPKD remain poorly understood. In this study, we identified a novel <i>PKD1</i> mutation associated with a remarkably high IA incidence in a large Chinese ADPKD family.</p>\u0000 </section>\u0000 <section>\u0000 <h3> Methods</h3>\u0000 <p>We conducted whole-exome sequencing in a three-generation Chinese ADPKD family (<i>n</i> = 24) characterized by an unusually high IA prevalence. The pathogenicity of the identified <i>PKD1</i> variant was validated through comprehensive functional studies, including protein localization, calcium signaling, and endothelial cell behavior analyses.</p>\u0000 </section>\u0000 <section>\u0000 <h3> Results</h3>\u0000 <p>We discovered a novel <i>PKD1</i> mutation (c.G10086T) that co-segregated with disease in all affected family members. Notably, 38.1% (8/21) of the mutation carriers developed IAs, a significantly higher rate than reported in general ADPKD populations (4%–11.5%). Functional studies revealed that this mutation disrupted polycystin-1 trafficking and impaired calcium signaling, leading to endothelial dysfunction. In vitro experiments demonstrated enhanced angiogenic potential and compromised vascular integrity in cells expressing mutant <i>PKD1</i>.</p>\u0000 </section>\u0000 <section>\u0000 <h3> Conclusions</h3>\u0000 <p>The newly identified <i>PKD1</i>:c.G10086T mutation represents a high-risk genetic variant for IA development in ADPKD. Our findings provide new insights into the vascular complications of ADPKD and suggest that <i>PKD1</i> genotyping may help identify patients requiring intensive IA surveillance. This study supports the development of mutation-specific screening strategies for ADPKD-associated vascular complications.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 2","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70086","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143446971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-Term Outcome and Prognosis of Idiopathic Optic Neuritis: A Cohort Study","authors":"Benjamin Leger,&nbsp;Antoine Gueguen,&nbsp;Augustin Lecler,&nbsp;Marine Boudot de la Motte,&nbsp;Cédric Lamirel,&nbsp;Caroline Bensa,&nbsp;Catherine Vignal,&nbsp;Romain Marignier,&nbsp;Caroline Papeix,&nbsp;Romain Deschamps","doi":"10.1111/ene.70067","DOIUrl":"https://doi.org/10.1111/ene.70067","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Patients diagnosed with optic neuritis (ON) who did not fulfil the diagnostic criteria for multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMO-SD), tested negative myelin oligodendrocyte glycoprotein immunoglobulin G and for which a systemic disease has been excluded are classified as having idiopathic ON (IDON).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This was a monocentric retrospective observational study. Inclusion criteria were as follows: patients with IDON, absence of an alternative diagnosis during the first 2 years, follow-up of at least 5 years.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Thirty-six patients were included. After a median follow-up of 9 years, a diagnosis of IDON was retained for 77.8% (<i>n</i> = 28) of patients, whereas 22.2% (<i>n</i> = 8) converted to an alternative diagnosis after a median of 6 years. Four patients converted to MS, two to clinically isolated syndrome and two to seronegative NMO-SD. Among the 28 patients who remained diagnosed with IDON, 42.9% (<i>n</i> = 12) experienced recurrent ON, occurring mostly (90%) within the first 5 years of the disease. Maintenance therapy was initiated in 10 of the 12 patients, among whom 6 patients had no recurrence under treatment. For the 28 patients who remained with IDON, the final best corrected visual acuity (BCVA) was variable. Respectively, 35.7% and 25.9% of patients had a BCVA inferior to 0.5 and 0.2, whereas 50% recovered a final BCVA of 10/10.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>A significant proportion of the cohort converted to an alternative diagnosis after 2 years, encouraging an extended follow-up of IDON patients. Maintenance therapies were often effective in case of recurrent ON.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 2","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70067","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143446863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and Spectrum of Neuropathies in a Cohort of 585 Patients With Immunoglobulin A Monoclonal Gammopathy","authors":"Valentine Perrain,&nbsp;Valérie Molinier-Frenkel,&nbsp;Jehan Dupuis,&nbsp;Alain Créange,&nbsp;Jean-Pascal Lefaucheur,&nbsp;Thierry Gendre","doi":"10.1111/ene.70087","DOIUrl":"https://doi.org/10.1111/ene.70087","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Neuropathies associated with IgA monoclonal gammopathy are poorly understood, and the interpretation of the presence of such gammopathy in a patient with neuropathy may be challenging.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The neurological and hematological features of all patients newly diagnosed with IgA gammopathy by immunofixation in our center from January 2016 to December 2020 were retrospectively analyzed. Patients with neuropathy were identified through the medical records. The etiology was reviewed by two neurologists and classified into three groups: (i) IgA-related neuropathies, (ii) IgA-unrelated neuropathies with an identified alternative etiology, and (iii) neuropathies of uncertain relationship with IgA (NURIA) based on a negative extensive work-up.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 585 patients with IgA gammopathy, 79 had neuropathy (14%). Neuropathy was IgA-related in 10 patients (13%): eight AL amyloidosis and two POEMS. In this group, the core features were neuropathic pain, autonomic dysfunction, fatigue or weight loss, and a lambda light chain. IgA-unrelated neuropathies were more frequent (<i>N</i> = 64, 81%), encompassing mainly chemotherapy-induced (<i>N</i> = 34) and diabetic (<i>N</i> = 15) neuropathies. Five patients (6%) were classified as NURIA: four had mild sensory-predominant length-dependent axonal neuropathy, and one had severe, progressive, motor-predominant axonal neuropathy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In patients with IgA gammopathy, neuropathies have a low prevalence and a wide etiological spectrum. AL amyloidosis and POEMS syndrome are rare but crucial to identify, as disease-modifying treatments are available. Future studies should help better characterize the rare cases of neuropathy with an uncertain relationship to IgA gammopathy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 2","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70087","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143439171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}