European Journal of Neurology最新文献

{"title":"The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.","authors":"Ioanna Alefanti, Christos Koros, Viktoria Tsami, Athina Maria Simitsi, Chrisoula Kartanou, Nikolaos Papagiannakis, Maria Bozi, Roubina Antonelou, Matina Maniati, Ann-Kathrin Hauser, Stefanos Varvaressos, Anastasios Bonakis, Konstantinos Lourentzos, Periklis Makrythanasis, Sokratis G Papageorgiou, Christos Proukakis, Constantinos Potagas, Thomas Gasser, Georgios Koutsis, Georgia Karadima, Leonidas Stefanis","doi":"10.1111/ene.16562","DOIUrl":"10.1111/ene.16562","url":null,"abstract":"<p><strong>Background: </strong>The p.A53T variant in the SNCA gene was considered, until recently, to be the only SNCA variant causing familial Parkinson's disease (PD) in the Greek population. We identified a novel heterozygous p.A30G (c.89 C>G) SNCA pathogenic variant in five affected individuals of three Greek families, leading to autosomal dominant PD. This study aims to further explore the presence and phenotypic expression of this variant in the Greek PD population.</p><p><strong>Methods: </strong>Restriction fragment length polymorphism (RFLPs) was used for genotyping of 664 Greek PD cases. Detailed clinical information was obtained for the carriers and p.A30G-positive samples underwent haplotype analysis.</p><p><strong>Results: </strong>We identified 10 additional p.A30G-positive PD patients (1.5%), of whom 4 were sporadic cases (0.9%). They manifested typical Parkinsonian motor dysfunction, with a mean age of onset of 51.7 years (range: 33-62) and a broad spectrum of non-motor symptoms. The absence of affected first degree relatives in four out of ten index cases, and the presence of a phenocopy in an additional family, suggest that the p.A30G variant manifests reduced penetrance. The common haplotype among the p.A30G carriers confirmed a founder effect. Furthermore, two asymptomatic carriers were identified, with possible premotor manifestations.</p><p><strong>Conclusions: </strong>These findings underscore that the p.A30G SNCA pathogenic variant represents an important, albeit rare, cause of genetic PD in the Greek population. This is the first time in which a genetic synucleinopathy, with a variant in the SNCA gene, is clearly linked to an appreciable frequency of sporadic PD in a particular population.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 2","pages":"e16562"},"PeriodicalIF":4.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11775907/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058552","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":"Cross-Country Inequalities in Disease Burden and Quality of Care of Stroke, 1990-2021: A Systematic Analysis of the Global Burden of Disease Study 2021.","authors":"Zeyu Luo, Denan Jiang, Shiyi Shan, Jiali Zhou, Weidi Sun, Jing Wu, Jiayao Ying, Liying Zhou, Yajie Zhu, Peige Song, Kazem Rahimi","doi":"10.1111/ene.70050","DOIUrl":"10.1111/ene.70050","url":null,"abstract":"<p><strong>Background and purpose: </strong>This study aims to assess the disease burden and care quality along with cross-country inequalities for stroke at global, regional, and national levels from 1990 to 2021.</p><p><strong>Methods: </strong>Data on stroke were extracted from the Global Burden of Disease (GBD) study 2021 for the globe, five sociodemographic index (SDI) regions, 21 GBD regions, and 204 countries/territories. The disease burden was quantified using the age-standardized disability-adjusted life years rate (ASDR). Quality of care (QoC) was evaluated through the age-standardized QoC index (QCI). To assess cross-country disparities in both disease burden and age-standardized QCI, the slope index of inequality (SII) and the concentration index were utilized.</p><p><strong>Results: </strong>From 1990 to 2021, the global ASDR of stroke decreased from 3078.95 (95% uncertainty interval [UI]: 2893.58, 3237.34) to 1886.20 (95% UI: 1738.99, 2017.90) per 100,000 population, while the age-standardized QCI improved from 50.79 to 64.61. However, the results of inequalities showed worsening inequalities in both ASDR and QCI, with lower SDI countries shouldering a disproportionate burden and higher SDI countries maintaining higher QoC. The SII and concentration index for ASDR indicated a worsening inequality among lower SDI countries, with SII increasing to -2616.44 and the concentration index increasing to -0.1119 in 2021. Meanwhile, the SII and concentration index for age-standardized QCI showed a worsening inequality among higher SDI countries, with SII of 27.48 and concentration index of 0.0922 in 2021.</p><p><strong>Conclusions: </strong>Despite notable global advancements, significant disparities in stroke still exist, particularly in lower SDI regions facing high disease burdens and substandard care.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 2","pages":"e70050"},"PeriodicalIF":4.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11775921/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058545","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":"Brain Iron Alteration in Pediatric Tourette Syndrome: A Quantitative Susceptibility Mapping Study.","authors":"Liping Lin, Zhibin Ruan, Yufen Li, Huaqiong Qiu, Chengfen Deng, Long Qian, Wei Cui, Wen Tang, Zhiyun Yang, Yanglei Cheng, Yujian Liang, Shu Su","doi":"10.1111/ene.70054","DOIUrl":"https://doi.org/10.1111/ene.70054","url":null,"abstract":"<p><strong>Background: </strong>The cortico-striato-thalamo-cortical circuits play a crucial role in the pathogenesis of Tourette syndrome (TS). While iron deficiency has been reported in adult TS, the iron content in pediatric TS remains poorly understood. This study aims to quantitatively assess whole-brain iron deposition in pediatric TS compared to typically developing (TD) children using quantitative susceptibility mapping (QSM).</p><p><strong>Methods: </strong>In this prospective study, we recruited 50 children with a clinical diagnosis of TS and 50 age- and gender-matched TD controls. Whole-brain images were acquired using 3D T1 and multi-echo gradient-recalled echo sequences. QSM maps were generated using the STISuite toolbox. After normalizing the QSM maps to Montreal Neurological Institute space, voxel-based analysis was applied to compare between-group differences in iron content. Additionally, we evaluated the relationship between iron content and tic severity in TS children using the Pearson's correlation test.</p><p><strong>Results: </strong>Compared to TD children, those with TS exhibited iron deficiency in the right anterior cingulum (p_FDR < 0.001). Conversely, increased QSM values were observed in the bilateral putamen of TS children (p_FDR < 0.001). Notably, QSM values in the left putamen showed a significant negative correlation with tic severity (p = 0.044).</p><p><strong>Conclusions: </strong>Our findings suggest that disturbed brain iron homeostasis in specific regions is associated with pediatric TS. These results reinforce the importance of the cortico-striato-thalamo-cortical circuits in TS pathogenesis and highlight the potential role of iron dysregulation. Furthermore, our study demonstrates that QSM could serve as a valuable auxiliary biomarker for diagnosing and potentially monitoring pediatric TS.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 2","pages":"e70054"},"PeriodicalIF":4.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143079106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"De-Escalation of Disease-Modifying Therapy in Multiple Sclerosis-A Danish Nationwide Cohort Study.","authors":"Frederik Elberling, Mie Reith Mahler, Luigi Pontieri, Finn Sellebjerg, Melinda Magyari","doi":"10.1111/ene.70042","DOIUrl":"https://doi.org/10.1111/ene.70042","url":null,"abstract":"<p><strong>Background and objective: </strong>High-efficacy (HE) disease-modifying therapies (DMT) are increasingly used to treat multiple sclerosis (MS). Concerns arise when considering the decreasing efficacy and increasing risk of adverse events in aging patients. We aimed to describe disease activity and treatment trajectories in patients with MS who de-escalated from an HE DMT to an moderate-efficacy (ME) DMT.</p><p><strong>Methods: </strong>We performed a cohort study based on data from the Danish Multiple Sclerosis Registry (DMSR) including patients with relapsing-remitting MS (RRMS), who switched from an HE DMT to an ME DMT as defined by Danish authorities. We included patients from October 2007 to July 2023. Median follow-up time was 0.8 years (IQR 0.3-2.5).</p><p><strong>Results: </strong>In total 333 patients (76.0% females, mean age: 45.1 years) de-escalated for various reasons. Most patients de-escalated from natalizumab or fingolimod (43.8% and 42.0%, respectively) to dimethyl fumarate (47.5%). At 2 years after de-escalation, the cumulative risk of relapse was 38% (95% CI 31-44) and 53% (95% CI 46-60) for inflammatory disease activity (relapses and/or radiological disease activity). Age (HR 0.96, 95% CI 0.94-0.98) and inflammatory disease activity prior to de-escalation (HR 2.05, 95% CI 1.45-2.91) were associated with inflammatory disease activity post de-escalation.</p><p><strong>Discussion: </strong>De-escalation from primarily natalizumab and fingolimod did not effectively ensure disease stability in this cohort. Younger age and inflammatory disease activity prior to de-escalation were risk factors for inflammatory disease activity post de-escalation, which can help guide future studies on de-escalation.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 2","pages":"e70042"},"PeriodicalIF":4.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143079110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Functional connectivity and metabolic brain alterations in sleepwalkers.","authors":"Greta Mainieri, Magali Jane Rochat, Elena Cantoni, Giovanni Sighinolfi, Micaela Mitolo, Giuseppe Loddo, Francesco Mignani, Susanna Mondini, Raffaele Lodi, Federica Provini, Caterina Tonon","doi":"10.1111/ene.70008","DOIUrl":"10.1111/ene.70008","url":null,"abstract":"<p><strong>Objective: </strong>Disorders of arousal (DoA) are characterized by an intermediate state between wakefulness and deep sleep, leading to incomplete awakenings from NREM sleep. Multimodal studies have shown subtle neurophysiologic alterations even during wakefulness in DoA. The aim of this study was to explore the brain functional connectivity in DoA and the metabolic profile of the anterior and posterior cingulate cortex, given its pivotal role in cognitive and emotional processing.</p><p><strong>Methods: </strong>Fifteen consecutive patients with DoA (9 males, mean age 26.3 ± 7.7) and 15 age- and sex-matched healthy controls (8 males, mean age 25.8 ± 3.6) were enrolled. All participants underwent a protocol including sleep and psychological evaluation scales and multimodal brain MRI with resting-state functional MRI and 1H-MR spectroscopy.</p><p><strong>Results: </strong>The independent component analysis disclosed an altered resting-state functional connectivity (FC) in the patients' sensory motor network, with a higher connectivity strength in opercular cortex, precuneus, occipital pole, and lingual gyrus. The seed-based analysis revealed a decreased FC between posterior cingulate cortex (PCC) and several cerebral areas. Finally, spectroscopic imaging revealed a reduced content of glutamine in the PCC (p < 0.001).</p><p><strong>Interpretation: </strong>The increased connectivity in the sensory-motor network of DoA patients could constitute a \"facilitatory medium\" enhancing motor circuit activation, while the connectivity and metabolic alterations of PCC might represent a trait functional feature, contributing to a dysfunctional arousal process and the difficulty to reach a complete awareness during DoA episodes. In addition, these alterations at rest might be related to daytime impairment reported by patients, requiring new strategies for DoA management.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 2","pages":"e70008"},"PeriodicalIF":4.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11770889/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046067","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":"Retrospective analysis of 80 patients diagnosed with reversible cerebral vasoconstriction syndrome in the Helsinki Metropolitan Area.","authors":"Maria Girfanova, Nicolas Martinez-Majander, Laura Mannismäki, Gerli Sibolt, Marjaana Tiainen, Sami Curtze","doi":"10.1111/ene.16564","DOIUrl":"10.1111/ene.16564","url":null,"abstract":"<p><strong>Background and purpose: </strong>Up to 80% of patients diagnosed with reversible cerebral vasoconstriction syndrome (RCVS) experience complications such as ischaemic stroke, intracerebral or subarachnoid haemorrhage or posterior reversible encephalopathy syndrome. The aim was to evaluate the incidence of complications in patients diagnosed with RCVS in our clinic.</p><p><strong>Patients and methods: </strong>All adult patients (age >16 years) diagnosed with RCVS at the Helsinki University Central Hospital during the period between 1 January 2016 and 31 December 2022 were retrospectively identified. Medical and follow-up data were collected from medical records.</p><p><strong>Results: </strong>Eighty patients diagnosed with RCVS were identified, of whom four patients had parenchymal lesions such as ischaemic stroke, intracerebral haemorrhage, posterior cerebral encephalopathy syndrome, subarachnoid haemorrhage or combinations thereof.</p><p><strong>Conclusion: </strong>The complication rate of RCVS is lower than in previously published cohorts. This may be related to better and earlier diagnostics and earlier withdrawal of possible triggers.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 2","pages":"e16564"},"PeriodicalIF":4.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11775919/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058550","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":"Small fiber neuropathy in the post-COVID condition and Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: Clinical significance and diagnostic challenges.","authors":"Naiara Azcue, Sara Teijeira-Portas, Beatriz Tijero-Merino, Marian Acera, Tamara Fernández-Valle, Unai Ayala, Maitane Barrenechea, Ane Murueta-Goyena, Jose Vicente Lafuente, Adolfo Lopez de Munain, Guillermo Ruiz-Irastorza, Daniel Martín-Iglesias, Iñigo Gabilondo, Juan Carlos Gómez-Esteban, Rocio Del Pino","doi":"10.1111/ene.70016","DOIUrl":"10.1111/ene.70016","url":null,"abstract":"<p><strong>Background: </strong>Patients with post-COVID condition (PCC) and Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) experience symptoms potentially associated with small fiber neuropathy (SFN).</p><p><strong>Methods: </strong>A sample of 90 participants, comprising 30 PCC patients, 30 ME/CFS patients, and 30 healthy controls (HC), matched by sex and age, was assessed. Neuropathic, autonomic, and fatigue symptoms were measured with TaskForce Monitor, the Sudoscan, heat and cold evoked potentials, In Vivo Corneal Confocal Microscopy (IVCCM), and specialized questionaries.</p><p><strong>Results: </strong>PCC and ME/CFS patients demonstrated significantly higher levels of autonomic symptoms (H = 39.89, p < 0.001), neuropathic symptoms (H = 48.94, p < 0.001), and fatigue (H = 49.29, p < 0.001) compared to HC. Quantitative sensory testing revealed significant differences in heat detection thresholds between PCC patients and HC (F = 4.82; p < 0.01). Regarding corneal small fiber tortuosity, there were statistically significant differences between patients and HC (F = 6.80; p < 0.01), indicating pathological responses in patients. Small fiber tortuosity in IVCCM was identified as the main discriminator between patients and HC (AUC = 0.720; p < 0.01).</p><p><strong>Conclusion: </strong>PCC and ME/CFS patients demonstrated sensory SFN, as evidenced by impaired heat detection and increased tortuosity of small fibers in the central corneal subbasal plexus. The findings underscore the importance of a multimodal approach to comprehensively detect and characterize SFN. This study provides valuable scientific insights into the neuropathic manifestations associated with these conditions.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 2","pages":"e70016"},"PeriodicalIF":4.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11783232/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143064755","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":"Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.","authors":"Amir Dori, Odelia Chorin, Noa Ruhrman-Shahar, Avi Fellner, Tayir Alon, Haike Reznik-Wolf, Ortal Barel, Dana Fourey, Osnat Itzhaki Ben Zadok, Yaron Aviv, Vera Nikitin, Merav Ben-David, Efrat Shavit-Stein, Rivka Goldis, Batia Kaplan, Daniela Shapiro, Elon Pras, Arthur Pollak, Vardiella Meiner, Michael Arad, Lior Greenbaum","doi":"10.1111/ene.70057","DOIUrl":"10.1111/ene.70057","url":null,"abstract":"<p><strong>Background: </strong>Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset autosomal-dominant disorder caused by pathogenic variants in the transthyretin (TTR) gene. Data about relevant variants in specific populations and typical initial manifestations may facilitate early diagnosis and treatment. We here describe the genetic landscape of ATTRv amyloidosis in Israel.</p><p><strong>Methods: </strong>Genetic and clinical data of TTR variant carriers and ATTRv amyloidosis patients were collected from a national referral clinic and other subspecialty clinics in Israel. Genotype-phenotype correlations of the detected variants were detailed. In addition, two large Israeli exome sequence (ES) databases were screened for TTR variants.</p><p><strong>Results: </strong>Seven heterozygous disease-causing variants in TTR were identified among 95 adults (52 males, 50.7%). The Ser77Tyr variant was found in 68 (71.6%) subjects of Jewish Yemenite ancestry. Val122Ile was found in 9 (9.4%) subjects and was the only variant detected in individuals of Arab ethnicity. Other variants were Thr60Ala, Val30Met, Val32Ala, Ala81Val, and Glu89Val. Thirty-five individuals were ATTRv amyloidosis patients (25 males, 71.4%), diagnosed at a mean age of 62.5 ± 6.7 years, and 23 (63.7%) were due to Ser77Tyr. Initial symptoms were mostly related to carpal tunnel syndrome, and the sensitivity of scintigraphy was low for Ser77Tyr but high for Thr60Ala and Val32Ala variants. TTR pathogenic variants were detected in 14 of approximately 36,600 subjects who underwent ES, including Val122Ile in 9 subjects of Arab ethnicity.</p><p><strong>Conclusions: </strong>Most ATTRv amyloidosis cases in Israel are attributable to the Ser77Tyr variant. However, other variants also contribute to disease occurrence, and testing is warranted in clinically suspected patients.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 2","pages":"e70057"},"PeriodicalIF":4.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11775909/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058547","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":"Causes of hospitalization and mortality in persons with epilepsy: The EpiLink Bologna cohort, Italy.","authors":"Lorenzo Muccioli, Corrado Zenesini, Laura Licchetta, Laura Maria Beatrice Belotti, Lidia Di Vito, Lorenzo Ferri, Domenico Fiorillo, Barbara Mostacci, Elena Pasini, Patrizia Riguzzi, Martina Soldà, Lisa Taruffi, Lilia Volpi, Federico Mason, Francesco Nonino, Roberto Michelucci, Paolo Tinuper, Luca Vignatelli, Francesca Bisulli","doi":"10.1111/ene.16576","DOIUrl":"10.1111/ene.16576","url":null,"abstract":"<p><strong>Background: </strong>Epilepsy significantly impacts on morbidity and mortality. Understanding hospitalization and mortality risks in persons with epilepsy (PWE) is essential for improving healthcare strategies. We aimed to investigate the risk and causes of hospitalization and mortality in PWE compared to a matched general population cohort.</p><p><strong>Methods: </strong>The EpiLink Bologna historical cohort study analyzed adult PWE in the period 2018-2019. A general population control cohort was used for comparison. Clinical data were linked with health administrative data. PWE were grouped into persons with focal epilepsy, idiopathic generalized epilepsy, and developmental and/or epileptic encephalopathy (PDEE). The primary outcome was the hospitalization rate. Emergency department (ED) visit rate and the risk of death for any cause were also assessed.</p><p><strong>Results: </strong>The study included 1438 PWE and 14,096 controls. PWE had higher incidence rate ratio (IRR) for ED visit (IRR 1.26, 95% CI 1.20-1.32), hospital admission (IRR 2.05, 95% CI 1.83-2.29), and death (IRR 1.5, 95% CI 1.1-2.2) compared to control cohort. The highest hospitalization risk was in the PDEE group (IRR 4.70; 95% CI 3.28-6.74). The increased hospitalization rate among PWE was due to both their higher ED visit and elective hospital admission rates. PWE on polytherapy were at higher risk of hospitalization for inflammation of jaw, acid-base/electrolyte imbalances, chronic cerebrovascular disease, major traumas and infections.</p><p><strong>Conclusions: </strong>During a 2-year-period, PWE in Bologna had a doubled risk of hospitalization and 50% higher risk of death compared to a matched general population cohort. Hospitalization risks varied significantly by epilepsy type and antiseizure therapy.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 2","pages":"e16576"},"PeriodicalIF":4.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11783224/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143064746","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":"Early intensive therapy versus escalation strategy in French Caribbean multiple sclerosis cohort.","authors":"Thomas David, Quentin Lobjois, Benoit Tressières, Aissatou Signaté, Annie Lannuzel, Philippe Cabre, Hugo Chaumont","doi":"10.1111/ene.70030","DOIUrl":"10.1111/ene.70030","url":null,"abstract":"<p><strong>Background: </strong>Data on Escalation Therapy versus Early Intensive Therapy (EIT) Strategy in multiple sclerosis (MS) are lacking, particularly in Afro-Caribbean cases, known for their severity.</p><p><strong>Objectives: </strong>To assess efficacy and safety of these strategies in a predominantly Afro-Caribbean relapsing-remitting MS population.</p><p><strong>Methods: </strong>A multicenter retrospective study of 195 MS patients, including 66 on EIT, with ≥2 years follow-up.</p><p><strong>Primary outcome: </strong>Kaplan-Meier curves and log-rank test were used to assess irreversible progression to EDSS scores of 3, 6, and 8.</p><p><strong>Secondary outcomes: </strong>change in EDSS score, risk factors for EDSS progression, and severe adverse effects.</p><p><strong>Results: </strong>EIT showed slower EDSS 3 progression than Escalation (median survival 13.5 vs. 9.8 years, p = 0.024). After a median follow-up of 8 years, 89.5% on EIT remained free from EDSS 3 versus 63.8% on Escalation. Univariate analysis linked Escalation (hazard ratio (HR; 95% CI): 2.42 [1.09-5.34]), age at first relapse (HR: 1.04 [1.01-1.06]), incomplete symptom regression (HR: 1.69 [1.02-2.77]), and EDSS 3 progression. EDSS stabilized or decreased with EIT but worsened with Escalation (p < 0.001). Safety profiles were similar.</p><p><strong>Conclusions: </strong>EIT extends median time to irreversible EDSS 3 in Afro-Caribbean individuals compared to Escalation, supporting its preference as initial treatment.</p>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 2","pages":"e70030"},"PeriodicalIF":4.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11782180/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143064750","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}