European Journal of Neurology最新文献

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Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study EFACTS自然史研究中弗里德里希共济失调患者5年以上人体测量测量的纵向分析。
IF 4.5 2区 医学
European Journal of Neurology Pub Date : 2025-01-11 DOI: 10.1111/ene.70011
Stella Andrea Lischewski, Kerstin Konrad, Imis Dogan, Claire Didszun, Ana Sofia Costa, Sara Annabelle Schawohl, Paola Giunti, Michael H. Parkinson, Caterina Mariotti, Lorenzo Nanetti, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Zofia Fleszar, Thomas Klockgether, Marcus Grobe-Einsler, Ilaria Giordano, Myriam Rai, Massimo Pandolfo, Jörg B. Schulz, Kathrin Reetz, the EFACTS study group
{"title":"Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study","authors":"Stella Andrea Lischewski,&nbsp;Kerstin Konrad,&nbsp;Imis Dogan,&nbsp;Claire Didszun,&nbsp;Ana Sofia Costa,&nbsp;Sara Annabelle Schawohl,&nbsp;Paola Giunti,&nbsp;Michael H. Parkinson,&nbsp;Caterina Mariotti,&nbsp;Lorenzo Nanetti,&nbsp;Alexandra Durr,&nbsp;Claire Ewenczyk,&nbsp;Sylvia Boesch,&nbsp;Wolfgang Nachbauer,&nbsp;Thomas Klopstock,&nbsp;Claudia Stendel,&nbsp;Francisco Javier Rodríguez de Rivera Garrido,&nbsp;Ludger Schöls,&nbsp;Zofia Fleszar,&nbsp;Thomas Klockgether,&nbsp;Marcus Grobe-Einsler,&nbsp;Ilaria Giordano,&nbsp;Myriam Rai,&nbsp;Massimo Pandolfo,&nbsp;Jörg B. Schulz,&nbsp;Kathrin Reetz,&nbsp;the EFACTS study group","doi":"10.1111/ene.70011","DOIUrl":"10.1111/ene.70011","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Friedreich ataxia is a rare neurodegenerative disorder caused by frataxin deficiency. Both underweight and overweight occur in mitochondrial disorders, each with adverse health outcomes. We investigated the longitudinal evolution of anthropometric abnormalities in Friedreich ataxia and the hypothesis that both weight loss and weight gain are associated with faster disease progression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Participants were drawn from the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). Age- and sex-specific BMI and height scores were calculated using the KIGGS-BMI percentiles for children. Height correction was applied for scoliosis. Longitudinal data were analysed using linear mixed effects models and incremental standard deviation scores and growth mixture models identified subclasses with varying BMI trajectories.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Five hundred and forty-three adults and fifty-nine children were assessed for up to 5 years. In children, severe underweight (26%), underweight (7%), severe short stature (16%) and short stature (23%) were common. The corrected BMI percentile was stable in children, although 48% had negative incremental BMI scores over 1 year and 63% over 3 years versus 10%/year in a normal reference cohort. Overweight was common in adults (19%), with a slight increase in BMI over time. Longer GAA repeat size was linked to lower BMI in adults. Weight trajectory was not associated with ataxia progression in adults.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Significant anthropometric abnormalities were identified, with underweight and short stature prevalent in children and overweight in adults. These findings highlight the need for regular nutritional monitoring and interventions to manage underweight in children and promote healthy weight in adults.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11724196/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142964288","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}
引用次数: 0
Decreased Structural Connectivity Between Thalamic Nuclei and Hippocampus in Temporal Lobe Epilepsy—A Diffusion Tensor Imaging-Based Study 颞叶癫痫患者丘脑核与海马结构连通性下降——基于弥散张量成像的研究。
IF 4.5 2区 医学
European Journal of Neurology Pub Date : 2025-01-11 DOI: 10.1111/ene.70040
Mehmet S. Yildirim, Radheshyam Stepponat, Florian Ph. S. Fischmeister, Matthias Tomschik, Victor Schmidbauer, Farjad Khalaveh, Johannes Koren, Christoph Baumgartner, Ekaterina Pataraia, Silvia Bonelli, Karl Rössler, Gregor Kasprian, Christian Dorfer
{"title":"Decreased Structural Connectivity Between Thalamic Nuclei and Hippocampus in Temporal Lobe Epilepsy—A Diffusion Tensor Imaging-Based Study","authors":"Mehmet S. Yildirim,&nbsp;Radheshyam Stepponat,&nbsp;Florian Ph. S. Fischmeister,&nbsp;Matthias Tomschik,&nbsp;Victor Schmidbauer,&nbsp;Farjad Khalaveh,&nbsp;Johannes Koren,&nbsp;Christoph Baumgartner,&nbsp;Ekaterina Pataraia,&nbsp;Silvia Bonelli,&nbsp;Karl Rössler,&nbsp;Gregor Kasprian,&nbsp;Christian Dorfer","doi":"10.1111/ene.70040","DOIUrl":"10.1111/ene.70040","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Temporal lobe epilepsy (TLE) can lead to structural brain abnormalities, with thalamus atrophy being the most common extratemporal alteration. This study used probabilistic tractography to investigate the structural connectivity between individual thalamic nuclei and the hippocampus in TLE.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Thirty-six TLE patients who underwent pre-surgical 3 Tesla magnetic resonance imaging (MRI) and 18 healthy controls were enrolled in this study. Patients were subdivided into TLE with HS (TLE-HS) and MRI-negative TLE (TLE-MRneg). Tractography and whole brain segmentation, including thalamus parcellation, were performed to determine the number of streamlines per mm<sup>3</sup> between the thalamic nuclei and hippocampus. Connectivity strength and volume of regions were correlated with clinical data.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The volume of the entire thalamus ipsilateral to seizure onset was significantly decreased in TLE-HS compared to controls (Mann–Whitney-<i>U</i> test: <i>p</i><sub>FDR</sub> &lt; 0.01) with the anterior thalamic nuclei (ANT) as important contributor. Furthermore, decreased ipsilateral connectivity strength between the hippocampus and ANT was detected in TLE-HS (<i>p</i><sub>FDR</sub> &lt; 0.01) compared to TLE-MRneg and controls which correlated negatively with the duration of epilepsy (<i>ρ</i> = −0.512, <i>p</i> = 0.025) and positively with seizure frequency (<i>ρ</i> = 0.603, <i>p</i> = 0.006). Moreover, ANT volume correlated negatively with epilepsy duration in TLE-HS (<i>ρ</i> = −0.471, <i>p</i> = 0.042).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>ANT showed atrophy and decreased connectivity in TLE-HS, which correlated with epilepsy duration and seizure frequency. Understanding the dynamics of epileptogenic networks has the potential to shed light on surgery-resistant epilepsy and refine the selection process for ideal neurosurgical candidates, consequently enhancing post-surgical outcomes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11724195/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142964286","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}
引用次数: 0
Hyperreflective retinal foci are associated with retinal degeneration after optic neuritis in neuromyelitis optica spectrum disorders and multiple sclerosis 高反射性视网膜病灶与视神经炎、视脊髓炎、视谱障碍和多发性硬化症后视网膜变性有关。
IF 4.5 2区 医学
European Journal of Neurology Pub Date : 2025-01-10 DOI: 10.1111/ene.70038
Philipp Klyscz, Ifat Vigiser, Gilberto Solorza Buenrostro, Seyedamirhosein Motamedi, Carla Johanna Leutloff, Patrick Schindler, Tanja Schmitz-Hübsch, Friedemann Paul, Hanna Gwendolyn Zimmermann, Frederike Cosima Oertel
{"title":"Hyperreflective retinal foci are associated with retinal degeneration after optic neuritis in neuromyelitis optica spectrum disorders and multiple sclerosis","authors":"Philipp Klyscz,&nbsp;Ifat Vigiser,&nbsp;Gilberto Solorza Buenrostro,&nbsp;Seyedamirhosein Motamedi,&nbsp;Carla Johanna Leutloff,&nbsp;Patrick Schindler,&nbsp;Tanja Schmitz-Hübsch,&nbsp;Friedemann Paul,&nbsp;Hanna Gwendolyn Zimmermann,&nbsp;Frederike Cosima Oertel","doi":"10.1111/ene.70038","DOIUrl":"10.1111/ene.70038","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Hyperreflective retinal foci (HRF) visualized by optical coherence tomography (OCT) potentially represent clusters of microglia. We compared HRF frequencies and their association with retinal neurodegeneration between people with clinically isolated syndrome (pwCIS), multiple sclerosis (pwMS), aquaporin 4-IgG positive neuromyelitis optica spectrum disorder (pwNMOSD), and healthy controls (HC)—as well as between eyes with (ON<sup>+</sup>eyes) and without a history of optic neuritis (ON<sup>−</sup>eyes).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Cross-sectional data of pwCIS, pwMS, and pwNMOSD with previous ON and HC were acquired at Charité—Universitätsmedizin Berlin. HRF analysis was performed manually on the central macular OCT scan. Semi-manual OCT segmentation was performed to acquire the combined ganglion cell and inner plexiform layer (GCIPL), inner nuclear layer (INL), and peripapillary retinal nerve fiber layer (pRNFL) thickness. Group comparisons were performed by linear mixed models.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In total, 227 eyes from 88 patients (21 pwCIS, 32 pwMS, and 35 pwNMOSD) and 35 HCs were included. HRF in GCIPL and INL were more frequently detected in pwCIS, pwMS, and pwNMOSD than HCs (<i>p</i> &lt; 0.001 for all comparisons) with pwCIS exhibiting the greatest numbers. ON<sup>+</sup>eyes of pwMS had less HRF in GCIPL than ON<sup>−</sup>eyes (<i>p</i> = 0.036), but no difference was seen in pwCIS and pwNMOSD. HRF GCIPL were correlated to GCIPL thickness in ON<sup>+</sup>eyes in pwMS (<i>p</i> = 0.040) and pwNMOSD (<i>p</i> = 0.031).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>HRF occur in ON<sup>+</sup>eyes and ON<sup>−</sup>eyes across neuroinflammatory diseases. In pwMS and pwNMOSD, HRF frequency was positively associated with GCIPL thickness indicating that HRF formation might be dependent on retinal ganglion cells.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11718220/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946857","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}
引用次数: 0
Opicapone as adjunct to levodopa in treated Parkinson's disease without motor complications: A randomized clinical trial 阿匹卡彭辅助左旋多巴治疗帕金森病无运动并发症:一项随机临床试验
IF 4.5 2区 医学
European Journal of Neurology Pub Date : 2025-01-10 DOI: 10.1111/ene.16420
Joaquim J. Ferreira, Olivier Rascol, Fabrizio Stocchi, Angelo Antonini, Joana Moreira, Guillermo Castilla-Fernández, José-Francisco Rocha, Joerg Holenz, Werner Poewe, the Epsilon Study investigators
{"title":"Opicapone as adjunct to levodopa in treated Parkinson's disease without motor complications: A randomized clinical trial","authors":"Joaquim J. Ferreira,&nbsp;Olivier Rascol,&nbsp;Fabrizio Stocchi,&nbsp;Angelo Antonini,&nbsp;Joana Moreira,&nbsp;Guillermo Castilla-Fernández,&nbsp;José-Francisco Rocha,&nbsp;Joerg Holenz,&nbsp;Werner Poewe,&nbsp;the Epsilon Study investigators","doi":"10.1111/ene.16420","DOIUrl":"10.1111/ene.16420","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Catechol-O-methyl transferase (COMT) inhibitors are routinely used to manage motor fluctuations in Parkinson's disease (PD). We assessed the effect of opicapone on motor symptom severity in levodopa-treated patients without motor complications.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This was a randomized, double-blind, 24-week, placebo-controlled study of opicapone 50 mg as adjunct to levodopa (NCT04978597). Levodopa-treated patients without motor complications were randomized to 24 weeks of double-blind treatment with adjunct opicapone 50 mg or matching placebo. The primary efficacy endpoint was the mean change from baseline to week 24 in Movement Disorder Society-Unified Parkinson's Disease Rating Scale Part III (MDS-UPDRS-III) total score.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 355 patients were randomized (opicapone 50 mg <i>n</i> = 177, placebo <i>n</i> = 178) and 322 (91%) completed the double-blind period. The adjusted mean [95% CI] change from baseline to week 24 in MDS-UPDRS-III subscore was −6.5 [−7.9, −5.2] in the opicapone group versus −4.3 [−5.7, 3.0] in the placebo group resulting in a significant difference of −2.2 [−3.9, −0.5] favoring opicapone (<i>p</i> = 0.010). There was no difference in the incidence of patients who developed motor complications (5.5% with opicapone vs. 9.8% with placebo) and the incidence of adverse events considered related to study medication was similar between groups (opicapone 10.2% vs. placebo 13.5%).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Treatment with once-daily adjunct opicapone was well tolerated, improved motor severity, and did not induce the development of motor complications. These results support the clinical usefulness of opicapone in the management of PD patients without motor complications.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11718218/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946859","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}
引用次数: 0
Riluzole is associated with reduced risk of heart failure 利鲁唑与降低心力衰竭风险有关。
IF 4.5 2区 医学
European Journal of Neurology Pub Date : 2025-01-09 DOI: 10.1111/ene.70033
Kibum Kim, Sodam Kim, Margaret Katana, Dmitry Terentyev, Przemysław B. Radwański, Mark A. Munger
{"title":"Riluzole is associated with reduced risk of heart failure","authors":"Kibum Kim,&nbsp;Sodam Kim,&nbsp;Margaret Katana,&nbsp;Dmitry Terentyev,&nbsp;Przemysław B. Radwański,&nbsp;Mark A. Munger","doi":"10.1111/ene.70033","DOIUrl":"10.1111/ene.70033","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Reduction of intracellular Na<sup>+</sup> accumulation through late Na<sup>+</sup> current inhibition has been recognized as a target for cardiac Ca<sup>2+</sup> handling which underlies myocardial contractility and relaxation in heart failure (HF). Riluzole, an Na<sup>+</sup> channel blocker with enhancement of Ca<sup>2+</sup>-activated K<sup>+</sup> channel function, used for management of amyotrophic lateral sclerosis (ALS), is effective in suppressing Ca<sup>2+</sup> leak and therefore may improve cardiac function.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>The study aim was to investigate whether riluzole lowers HF incidence.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Rates of HF incident were compared using a commercial insurance and Medicare supplement claims databases. Patients with a filled riluzole prescription (treatment) between 06/2009 and 12/2019 were compared to those with no-riluzole (control). We excluded HF patients during the 180-day baseline period. Study endpoint was the first HF diagnosis from the index riluzole prescription or ALS diagnosis. HF onset was compared between the propensity score matched treatment and control cohorts.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The matched cohort consisted of 4060 pairs of riluzole/control patients. The 24-month cumulative incidence of HF onset for riluzole versus control patients was 4.96% versus 7.27%, calculating hazard ratio (HR) [95% CI, <i>p</i>-value] of 0.55 [0.40–0.76, <i>p</i> &lt; 0.01]. The HR estimates favoring riluzole over the ALS control were consistent across the 3 months to 2-year follow-up. The clinically and statistically significant effect on HF onset was driven by the lower rate of HFrEF with the 2-year HR [95% CI] of 0.46 [0.21–0.99].</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Riluzole is associated with a lower rate of HF onset, suggesting a potential prevention strategy for early management.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11716981/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946873","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}
引用次数: 0
Delineating the genetic landscape of Charcot–Marie–tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants
IF 4.5 2区 医学
European Journal of Neurology Pub Date : 2025-01-08 DOI: 10.1111/ene.16572
Arman Cakar, Ayse Candayan, Gulandam Bagırova, Zehra Oya Uyguner, Serdar Ceylaner, Hacer Durmus, Esra Battaloglu, Yesim Parman
{"title":"Delineating the genetic landscape of Charcot–Marie–tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants","authors":"Arman Cakar,&nbsp;Ayse Candayan,&nbsp;Gulandam Bagırova,&nbsp;Zehra Oya Uyguner,&nbsp;Serdar Ceylaner,&nbsp;Hacer Durmus,&nbsp;Esra Battaloglu,&nbsp;Yesim Parman","doi":"10.1111/ene.16572","DOIUrl":"10.1111/ene.16572","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Charcot–Marie-Tooth (CMT) disease is the most common inherited neuropathy. In this study, we aimed to analyze the genetic spectrum and describe phenotypic features in a large cohort from Türkiye.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Demographic and clinical findings were recorded. Patients were initially screened for <i>PMP22</i> duplication. Targeted sequencing or whole-exome sequencing was performed in duplication-negative patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Overall, 311 patients from 265 families were included. Demyelinating CMT (67.4%) was more common than axonal (20.5%) and intermediate subtypes (11.7%). <i>PMP22</i> duplication was the most frequent mutation, followed by pathogenic variants in <i>GJB1</i>, <i>MFN2</i>, <i>SH3TC2</i>, and <i>GDAP1</i> genes. <i>MPZ</i>-neuropathy was rare in our cohort (3.0%). Interestingly, CMT4 is the second most common type after CMT1. Lower extremity weakness and foot deformities were the most frequent presenting complaints. Striking clinical features included a high frequency of scoliosis in <i>SH3TC2</i>, peripheral hyperexcitability in <i>HINT1</i>, and central nervous system findings in <i>GJB1</i>. Autosomal recessive CMT subtypes had higher CMTESv2 scores when compared to autosomal dominant ones (12.39 ± 4.81 vs. 8.36 ± 4.15, <i>p</i>: 0.023). Twenty-one patients used wheelchairs during their last examination. Among them, 16 had an autosomal recessive subtype. Causative variants were identified in 31 genes, including 28 novel pathogenic or likely pathogenic changes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our findings provided robust data regarding the genetic distribution of CMT in Türkiye, which may pave the path for building population-specific diagnostic gene panels. Rare autosomal recessive subtypes were relatively frequent in our cohort. By analyzing genotype–phenotype correlations, our data may provide clinical clues for clinicians.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11707620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143055881","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}
引用次数: 0
Efficacy and safety of tirofiban in acute ischemic stroke patients with ideal reperfusion: A cohort study of LAA and CE subgroups 替罗非班对急性缺血性脑卒中理想再灌注患者的疗效和安全性:LAA和CE亚组的队列研究。
IF 4.5 2区 医学
European Journal of Neurology Pub Date : 2025-01-08 DOI: 10.1111/ene.70034
Chengsong Yue, Xiang Liu, Changwei Guo, Lilan Wang, Wenlong Zhao, Wenzhe Sun, Jiaxing Song, Jie Yang, Linyu Li, Nizhen Yu, Shihai Yang, Xiaolei Shi, Jiacheng Huang, Weiling Kong, Zhenqiang Li, Shunyu Yang, Shuang Yang, Wenjie Zi, Yi Lin, Fengli Li
{"title":"Efficacy and safety of tirofiban in acute ischemic stroke patients with ideal reperfusion: A cohort study of LAA and CE subgroups","authors":"Chengsong Yue,&nbsp;Xiang Liu,&nbsp;Changwei Guo,&nbsp;Lilan Wang,&nbsp;Wenlong Zhao,&nbsp;Wenzhe Sun,&nbsp;Jiaxing Song,&nbsp;Jie Yang,&nbsp;Linyu Li,&nbsp;Nizhen Yu,&nbsp;Shihai Yang,&nbsp;Xiaolei Shi,&nbsp;Jiacheng Huang,&nbsp;Weiling Kong,&nbsp;Zhenqiang Li,&nbsp;Shunyu Yang,&nbsp;Shuang Yang,&nbsp;Wenjie Zi,&nbsp;Yi Lin,&nbsp;Fengli Li","doi":"10.1111/ene.70034","DOIUrl":"10.1111/ene.70034","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Objectives</h3>\u0000 \u0000 <p>Despite achieving ideal reperfusion (eTICI = 3) through endovascular treatment (EVT), some acute ischemic stroke (AIS) patients still experience poor outcomes. This study aims to evaluate the efficacy and safety of tirofiban in AIS patients with ideal reperfusion, focusing on its effects in large artery atherosclerosis (LAA) and cardioembolic (CE) stroke.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A total of 474 AIS patients from the RESCUE-BT database were included. Patients were assigned to either the tirofiban or placebo group based on the treatment received. The primary outcome was favorable functional recovery at 90 days (mRS ≤2), and safety outcomes included symptomatic intracranial hemorrhage (sICH) and 90-day mortality. Multivariable logistic regression was used to adjust for confounders, and subgroup and interaction analyses assessed tirofiban's efficacy in LAA and CE populations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In the overall population that achieved ideal reperfusion, Tirofiban did not improve clinical outcomes and did not increase the risk of mortality or incidence of sICH (<i>p</i> &gt; 0.05). However, subgroup analysis indicated potential clinical benefits for patients with higher NIHSS scores in the LAA group, especially in the subgroup with NIHSS scores &gt;13 (adjusted OR 4.671, 95% CI [1.545, 14.122]). No significant differences were found in the CE group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Tirofiban showed potential benefits for LAA patients with ideal reperfusion, especially those with NIHSS scores above 13. Careful patient selection is recommended.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11707622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946832","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}
引用次数: 0
The efficacy of remote ischemic conditioning for outcomes in ischemic stroke patients with or without prior stroke: A post hoc analysis of the RICAMIS trial 远程缺血适应对有或无卒中史的缺血性卒中患者预后的影响:一项对RICAMIS试验的事后分析
IF 4.5 2区 医学
European Journal of Neurology Pub Date : 2025-01-07 DOI: 10.1111/ene.70032
Liang Liu, Xiao-Yu Sun, Chang Cui, Miao Liu, Yu Cui, Hui-Sheng Chen
{"title":"The efficacy of remote ischemic conditioning for outcomes in ischemic stroke patients with or without prior stroke: A post hoc analysis of the RICAMIS trial","authors":"Liang Liu,&nbsp;Xiao-Yu Sun,&nbsp;Chang Cui,&nbsp;Miao Liu,&nbsp;Yu Cui,&nbsp;Hui-Sheng Chen","doi":"10.1111/ene.70032","DOIUrl":"10.1111/ene.70032","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Purpose</h3>\u0000 \u0000 <p>To investigate the impact of a history of ischemic stroke or transient ischemic attack (TIA) on the effectiveness of remote ischemic conditioning (RIC) for outcomes in acute ischemic stroke patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a post hoc analysis of the Remote Ischaemic Conditioning for Acute Moderate Ischaemic Stroke (RICAMIS) trial. Patients in RICAMIS were categorized into two groups according to a history of stroke. The primary outcome was an excellent functional outcome, defined as a modified Rankin Scale (mRS) score of 0–1 at 90 days. Instead of comparing patients receiving usual care alone, we investigated the association of the RIC effect with functional outcomes in each group and the interaction between the RIC effect and a history of ischemic stroke or TIA.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We included a total of 1695 patients, of whom 562 patients had a history of ischemic stroke or TIA and 1133 patients without prior ischemic stroke or TIA. In the Never Stroke or TIA group, a higher proportion of excellent functional outcomes was found in the RIC subgroup compared to the control subgroup (adjusted OR = 1.557 [95% CI 1.187–2.043], <i>p</i> = 0.001) but not in Prior Stroke or TIA group (adjusted OR = 1.299 [95% CI 0.893–1.888], <i>p</i> = 0.171). However, no significant interaction between the RIC effect and a history of ischemic stroke or TIA was found among the groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This is the first report suggesting that the RIC effect may be influenced by the history of ischemic stroke or TIA for patients with acute ischemic stroke.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11705414/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946877","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}
引用次数: 0
Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition 脑腱黄瘤病:一个复杂的相互作用之间的临床和遗传异质性的条件。
IF 4.5 2区 医学
European Journal of Neurology Pub Date : 2025-01-06 DOI: 10.1111/ene.70006
Emily O'Keefe, Matthew Kiernan, William Huynh
{"title":"Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition","authors":"Emily O'Keefe,&nbsp;Matthew Kiernan,&nbsp;William Huynh","doi":"10.1111/ene.70006","DOIUrl":"10.1111/ene.70006","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Purpose</h3>\u0000 \u0000 <p>Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease characterized by abnormal bile acid synthesis. It often presents with systemic and neurological manifestations; however, atypical presentations can lead to significant diagnostic challenges. This case report highlights the diagnostic complexities and management considerations in a patient with an uncommon presentation of CTX.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We present a patient with a 25-year history of spastic paraparesis, initially suggestive of hereditary spastic paraplegia (HSP), ultimately diagnosed with CTX associated with a novel CYP27A1 variant of uncertain significance (VUS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A 53-year-old Greek woman presented with a 25-year history of slowly progressive spastic paraparesis. Initial investigations were largely unremarkable, leading to a presumptive diagnosis of a hereditary spastic paraplegia (HSP)-like syndrome. After 5 years of slow disease progression, the patient developed right ankle swelling. MRI revealed significant enlargement of the Achilles tendon, suggestive of xanthoma infiltration. Subsequent genetic testing identified a homozygous variant of uncertain significance (VUS) in the CYP27A1 gene. Biochemical analyses revealed elevated cholestanol levels and cholestanepentol glucuronide in urine, confirming the diagnosis of CTX. Treatment with chenodeoxycholic acid stabilized her condition over 3 years, but advanced disease limited efficacy in improving disability.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This case highlights the diagnostic challenges associated with CTX, stemming from its relative rarity and significant clinical heterogeneity. It emphasizes the importance of a comprehensive approach combining clinical suspicion, imaging, genetic testing and biochemical analyses for accurate diagnosis, interpretation of VUS and management of rare conditions like CTX.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142930890","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}
引用次数: 0
Clot signature in patients with large vessel occlusion stroke and concomitant active cancer 大血管闭塞性卒中并发活动性癌症患者的血块特征。
IF 4.5 2区 医学
European Journal of Neurology Pub Date : 2025-01-06 DOI: 10.1111/ene.70037
Malin Woock, Rosanna Rossi, Duaa Jabrah, Andrew Douglas, Petra Redfors, Annika Nordanstig, Turgut Tatlisumak, Erik Ceder, Dennis Dunker, Jeanette Carlqvist, István Szikora, Georgios Tsivgoulis, Klearchos Psychogios, Georgios Magoufis, Alexandros Rentzos, Karen M. Doyle, Katarina Jood
{"title":"Clot signature in patients with large vessel occlusion stroke and concomitant active cancer","authors":"Malin Woock,&nbsp;Rosanna Rossi,&nbsp;Duaa Jabrah,&nbsp;Andrew Douglas,&nbsp;Petra Redfors,&nbsp;Annika Nordanstig,&nbsp;Turgut Tatlisumak,&nbsp;Erik Ceder,&nbsp;Dennis Dunker,&nbsp;Jeanette Carlqvist,&nbsp;István Szikora,&nbsp;Georgios Tsivgoulis,&nbsp;Klearchos Psychogios,&nbsp;Georgios Magoufis,&nbsp;Alexandros Rentzos,&nbsp;Karen M. Doyle,&nbsp;Katarina Jood","doi":"10.1111/ene.70037","DOIUrl":"10.1111/ene.70037","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Purpose</h3>\u0000 \u0000 <p>Patients with active cancer face an increased risk of ischemic stroke. Also, stroke may be an initial indicator of cancer. In patients with large vessel occlusion (LVO) stroke treated with thrombectomy, analysis of the clot composition may contribute new insights into the pathological connections between these two conditions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We compared the content of 64 consecutively retrieved clots from LVO stroke patients with concomitant active cancer and 64 clots from matched-control LVO stroke patients without a history of cancer. Clots were analyzed with respect to histological composition by Martius Scarlet Blue, von Willebrand factor (vWF), citrullinated histone H3 (H3Cit, a biomarker of NETS), CD42b, and CD3 expression by immunohistochemistry. Orbit Image Analysis was used for quantification. Differences between groups were tested using the Mann–Whitney <i>U</i>-test and Chi-square Test.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Clots from patients with concomitant cancer had a significantly higher content of vWF (median 26 [IQR13-38]% vs. 10 [4–18]%, <i>p</i> &lt; 0.0001) and H3Cit (median 0.11 [IQR0.02–0.46]% vs. 0.05 [0.00–0.28]% <i>p</i> = 0.027) than controls. The presence of collagen &gt;1% within the retrieved clots was highly indicative of cancer, occurring in 16/64 with active cancer and in 3/64 controls, <i>p</i> = 0.002. After correction for multiple comparisons, the statistical significance for H3Cit was lost. Red and white blood cells, platelets, fibrin, and expression of CD3 and CD42b did not differ between the groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Clots from LVO patients with concomitant active cancer possess distinct characteristics, indicating an influence of cancer on the innate immune system, fibroblasts, and the vascular endothelium in the formation of LVO clots.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70037","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142930894","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}
引用次数: 0
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