European Journal of Neurology最新文献

{"title":"Temporal Trends in Hippocampal Sclerosis Surgery: An Observational Study From a Tertiary Epilepsy Centre","authors":"Paola Vassallo,&nbsp;Vaishali Gursal,&nbsp;Weixi Xiong,&nbsp;Dong Zhou,&nbsp;Jane de Tisi,&nbsp;Roland D. Thijs,&nbsp;John S. Duncan,&nbsp;Josemir W. Sander","doi":"10.1111/ene.70041","DOIUrl":"10.1111/ene.70041","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Temporal lobe epilepsy with hippocampal sclerosis (HS) is a surgically remediable syndrome. We determined temporal trends in the prevalence of hippocampal sclerosis surgeries and related factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We analysed a prospective cohort of adults who underwent epilepsy surgery at the NHNN, London, between 1990 and 2019. HS group was compared with other pathologies. Demographics, surgical trends for HS and associations with sex, age, prior neurological insults and febrile seizures were analysed. Temporal trends were assessed by one-way or Welch ANOVA, with post hoc analysis. Surgery latency over three decades was evaluated with the Kruskal–Wallis <i>H</i> test, using Dunn's procedure for pairwise comparisons. Chi-squared analyses examined associations with sex, age at operation, febrile seizures, and between resection side and handedness.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 1069 people operated, 586 had hippocampal sclerosis. After increasing, surgeries declined in the last decade (from 322 to 131), as did the number of people with hippocampal sclerosis and a history of childhood febrile seizures (from 87 to 23). The median interval from epilepsy onset to surgery increased from 22 to 24 and 27 years over each decade. Female sex and febrile seizures were associated with pathology (HS vs. non-HS) but not age at surgery, previous neurological insults, or the resection side and handedness.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Our study confirms the decline in hippocampal surgeries. This trend may be due to changes in the syndrome's natural history, possibly from improved paediatric care, and an increase in complex cases. The impact of delayed referrals, surgical risk fears and newer anti-seizure medications remains unclear.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11727258/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142970227","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":"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}

{"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 mm³ 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>_FDR &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>_FDR &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}

{"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⁺eyes) and without a history of optic neuritis (ON⁻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⁺eyes of pwMS had less HRF in GCIPL than ON⁻eyes (<i>p</i> = 0.036), but no difference was seen in pwCIS and pwNMOSD. HRF GCIPL were correlated to GCIPL thickness in ON⁺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⁺eyes and ON⁻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}

{"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}

{"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⁺ accumulation through late Na⁺ current inhibition has been recognized as a target for cardiac Ca²⁺ handling which underlies myocardial contractility and relaxation in heart failure (HF). Riluzole, an Na⁺ channel blocker with enhancement of Ca²⁺-activated K⁺ channel function, used for management of amyotrophic lateral sclerosis (ALS), is effective in suppressing Ca²⁺ 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}

{"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}

{"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}

{"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}

{"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}