Neurology最新文献

{"title":"Pomegranate Seed-Like Appearance of Spinal Sparganosis.","authors":"Linfang Lan,Wenbiao Xian,Youna Xie,Jinsheng Zeng","doi":"10.1212/wnl.0000000000213978","DOIUrl":"https://doi.org/10.1212/wnl.0000000000213978","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"19 1","pages":"e213978"},"PeriodicalIF":9.9,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144701092","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic Criteria for Autoimmune Encephalitis in Children: Challenges and Need for Clinical Expertise.","authors":"Yael Hacohen,Olga Ciccarelli,Amy C Kunchok","doi":"10.1212/wnl.0000000000213946","DOIUrl":"https://doi.org/10.1212/wnl.0000000000213946","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"75 3 1","pages":"e213946"},"PeriodicalIF":9.9,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144701089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Global & Community Health: Feasibility of Remote Training for Carotid Artery Ultrasound and Holter Recording in a Resource-Limited Setting.","authors":"Burc Bassa,Sarah Braun,Kemal Aydin,Andreas Rindermann,Musisye Luchembe,Madalitso Nthere,Diwell Mwansa,Malango Goma,Doreen Kalwizhi,Madrina Banda,Leroy Preston Yankae,David Daniel Nassoro,Mulenga Bwalya,Coolwe Namangala,Deanna R Saylor,Uta Meyding-Lamadé","doi":"10.1212/wnl.0000000000213943","DOIUrl":"https://doi.org/10.1212/wnl.0000000000213943","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"31 1","pages":"e213943"},"PeriodicalIF":9.9,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144701093","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reduction of Preexisting AAV9 Antibody Titers Before Onasemnogene Abeparvovec Administration in Twins With Spinal Muscular Atrophy.","authors":"Ryan W Nelson,Cody A Cox,Molly Stark,Andrew D Johnson,Kelly Sichmeller,Jayne Earhart,Jacqueline M Ihinger,Seth A Stafki,Peter Karachunski,Peter B Kang","doi":"10.1212/wnl.0000000000213899","DOIUrl":"https://doi.org/10.1212/wnl.0000000000213899","url":null,"abstract":"OBJECTIVESPreexisting immunity to adeno-associated viruses (AAVs) presents a major obstacle to eligibility for gene therapy.METHODSWe determined the feasibility of immunodepletion with therapeutic plasma exchange and rituximab to lower anti-AAV9 antibody (AAV Ab) titers before gene therapy for spinal muscular atrophy (SMA).RESULTSTwin 21-month-old brothers with SMA presented with AAV9 Ab titers of 1:800, exceeding the limit of 1:50 for eligibility to receive onasemnogene abeparvovec (OA). Because there was a low expectation of spontaneous reduction in Ab titers, they received 11 plasma exchanges and 2 doses of rituximab, leading to their AAV9 Ab titers dropping to the eligibility range for OA. During their OA infusions, despite methylprednisolone pretreatment, both twins experienced acute hypersensitivity reactions characterized by urticaria, wheezing, and GI disturbances that resolved with epinephrine. The limited dose of OA they received did not lead to marked clinical improvement.DISCUSSIONTherapeutic plasma exchange and rituximab successfully reduced the AAV Ab titers to the range of eligibility, but this regimen combined with corticosteroids was not sufficient to prevent infusion reactions to AAV gene therapy in our patients with preexisting AAV Abs. Further studies are needed to define a protocol that could enable patients to receive AAV-based gene therapy in the presence of preexisting immunity.","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"13 1","pages":"e213899"},"PeriodicalIF":9.9,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144701083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Longitudinal Changes in Brain Diffusion Characteristics Associated With Cognition and Vascular Risk Factors: The ARIC-NCS Study.","authors":"Yuto Uchida,Kengo Onda,Kei Nishimaki,Anna Kucharska-Newton,B Gwen Windham,Bruce A Wasserman,Kenichi Oishi","doi":"10.1212/wnl.0000000000213867","DOIUrl":"https://doi.org/10.1212/wnl.0000000000213867","url":null,"abstract":"BACKGROUND AND OBJECTIVESIt remains unclear whether longitudinal changes in brain microstructural integrity, measured by diffusion MRI, relate to cognition and vascular risks. We investigated whether annualized changes in fractional anisotropy (FA) and mean diffusivity (MD) are associated with changes in cognitive domains among nondemented older adults, and how these patterns differ by vascular risk factors.METHODSData were longitudinally collected from the Atherosclerosis Risk in Communities Neurocognitive Study, conducted across 4 US sites with 6,471 participants attending the baseline assessment. Individuals who underwent diffusion MRI and neurocognitive evaluations at least twice between 2011 and 2019 were included; those with baseline dementia were excluded. Linear mixed-effects models assessed associations between FA and MD values in 140 brain regions and domain-specific cognitive scores (executive function, language, and memory). Annualized changes in FA and MD values were compared between individuals with and without vascular risk factors.RESULTS592 participants (mean age: 75.8 ± 4.6 years; 56% women) were followed for 6 years on average. A 1-SD decrease in FA values in the left cingulum bundle was associated with a 0.166-SD reduction in executive function (95% CI 0.065-0.267; p = 0.025) and a 0.158-SD reduction in language (95% CI 0.054-0.263; p = 0.031). In addition, a 1-SD increase in MD values in the left hippocampus was associated with a 0.191-SD reduction in memory (95% CI -0.306 to -0.076; p = 0.009). Significant differences in annualized changes in these FA and MD values were found depending on the presence or absence of type 2 diabetes and smoking.DISCUSSIONDeterioration in microstructural integrity-reflected by lower FA in the left cingulum bundle and higher MD in the left hippocampus-was associated with declines in executive function, language, and memory. Furthermore, longitudinal changes in these FA and MD values had differences based on the presence of type 2 diabetes and smoking. These findings provide a foundational basis for future research to determine whether managing vascular risk factors can delay cognitive decline by affecting the microstructural integrity of the brain.","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"10 1","pages":"e213867"},"PeriodicalIF":9.9,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144701091","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cerebral Small Vessel Disease and Alzheimer Disease: The Vascular Link Through MRI Diffusion.","authors":"Hidenao Fukuyama","doi":"10.1212/wnl.0000000000214052","DOIUrl":"https://doi.org/10.1212/wnl.0000000000214052","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"144 1","pages":"e214052"},"PeriodicalIF":9.9,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144701095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trends in Prenatal Exposure to Antiseizure Medications Over the Past Decade: A Nationwide Study.","authors":"Pouneh Shahriari,Jérôme Drouin,Sara Miranda,Nicolas Bougas,Jérémie Botton,Rosemary Dray-Spira","doi":"10.1212/wnl.0000000000213933","DOIUrl":"https://doi.org/10.1212/wnl.0000000000213933","url":null,"abstract":"BACKGROUND AND OBJECTIVESPrenatal exposure to certain antiseizure medications (ASMs) is associated with established or suspected risks of congenital malformations and neurodevelopmental disorders. Large-scale, real-life data are essential to guide efforts to mitigate these risks. Our objective was to assess trends in prenatal exposure to ASMs over the past decade according to medication safety profiles.METHODSThis nationwide, population-based study is based on comprehensive data of the French National Mother-Child Register EPI-MERES. All ASM-exposed pregnancies ended between 2013 and 2021 were included. ASM-exposed pregnancies' frequency and characteristics (maternal sociodemographics and morbidities, pregnancy outcome, and ASM treatment modalities) were assessed considering 3 safety categories: (1) ASMs considered the safest (lamotrigine and levetiracetam); (2) ASMs with uncertain risk, including pregabalin, gabapentin, and newer ASMs (e.g., lacosamide and zonisamide); and (3) ASMs with acknowledged risk, including valproic acid, valpromide, carbamazepine, and topiramate.RESULTSBetween 2013 and 2021, 55,801 pregnancies were exposed to ≥1 ASM. Pregnancies exposed to the safest ASMs increased by +30%. Meanwhile, prenatal exposure to valproic acid and valpromide dramatically decreased due to decreasing numbers of exposed pregnancies (-84% and -89%, respectively), increasing termination rate of exposed pregnancies (+23% and +28%, respectively), and among those ended in childbirth, decreasing numbers with multiple valproate dispensations (-86% and -93%, respectively) or sustained exposure throughout pregnancy (-91% and -96%, respectively). Prenatal exposure to carbamazepine and topiramate barely decreased, with almost 600 newborns still exposed to each of these ASMs in 2019-2021. Pregabalin and gabapentin became widely used during pregnancy, resulting in more and more newborns prenatally exposed (+28%), and for pregabalin increasingly with multiple dispensations (+65%) and sustained exposure throughout pregnancy (+171%). The numbers of pregnancies and newborns exposed to newer ASMs also sharply increased (+140% and +60%, respectively). Overall, prenatal exposure to ASMs with acknowledged or uncertain risk disproportionately concerned pregnant women with a low level of resources (18.5% and 17.9%, respectively, vs 13%-14% among pregnancies exposed to the safest ASMs or ASM-unexposed).DISCUSSIONDespite a sharp shift from valproate to safer ASMs, prenatal exposure to other ASMs with acknowledged or uncertain risks has persisted or even increased, particularly among the most socially disadvantaged populations, requiring additional risk minimization measures.","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"19 1","pages":"e213933"},"PeriodicalIF":9.9,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144693457","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gestational Age at Birth and Clinical Manifestations of Spinal Muscular Atrophy.","authors":"Michelle Anne Farrar, Melissa Mandarakas, Nancy Briggs, Anita G Cairns, Karen Herbert, Zena Junek, Tejaswi Kandula, Jacqui Russell, Hugo Sampaio, Didu Kariyawasam","doi":"10.1212/WNL.0000000000213799","DOIUrl":"10.1212/WNL.0000000000213799","url":null,"abstract":"<p><strong>Background and objectives: </strong>Enhanced efficacy with spinal muscular atrophy (SMA) treatments is demonstrated with earlier initiation, ideally before the onset of symptoms. High-quality pregnancy and postnatal care for mother-baby dyads with SMA are important to ensure optimal outcomes. The aim of this study was to investigate obstetric and postnatal factors that could modify clinical outcomes of mother-baby dyads with SMA.</p><p><strong>Methods: </strong>This is an Australian dual-center prospective cohort study of 42 consecutive mother-baby dyads with SMA (≤4 survival motor neuron 2 [<i>SMN2</i>] copies) identified through a statewide newborn screening program or prenatal testing for SMA from 2018 to 2025. Sociodemographic, clinical, and genetic data were collated. For the group with 2 <i>SMN2</i> copies, regression models examined differences in gestational age at birth with study outcomes at diagnostic assessment, including clinical manifestations of SMA, motor function scores assessed with the CHOP-INTEND scale, and compound muscle action potential (CMAP).</p><p><strong>Results: </strong>Forty-two mother-baby dyads participated (n = 1 with 1 <i>SMN2</i>; n = 21 with 2 <i>SMN2</i>, gestational age at birth 39.9 ± 1.8 weeks; n = 20 with 3 or 4 <i>SMN2</i>, gestational age at birth 39.4 ± 0.8 weeks). All neonates with 3 or 4 <i>SMN2</i> copies were clinically silent at diagnostic assessment while 7 of 21 (33.3%) with 2 <i>SMN2</i> copies had clinical manifestations of SMA (<i>p</i> = 0.009). In newborns with 2 <i>SMN2</i> copies, higher gestational age at birth was associated with clinical manifestations of SMA (odds ratio 4.37, 95% CI 1.19-16.12, <i>p</i> = 0.001) and lower motor function (CHOP-INTEND: β = -4.52, 95% CI -7.018 to -2.019, <i>p</i> = 0.001) and strongly correlated with lower CMAP (<i>R</i> = -0.800, <i>p</i> < 0.001). High medical acuity was common in the obstetric and postnatal care of mothers and babies with SMA, occurring in 12 of 42 (29.3%) and 8 of 41 (19.5%), respectively, and mostly in those with 1 or 2 <i>SMN2</i> copies.</p><p><strong>Discussion: </strong>Early detection and timely administration of treatments are imperative in managing the rapid and severe loss of motor function that can occur in neonates with SMA. A personalized obstetric health care approach, prenatal testing, and planning the timing of delivery and initiation of treatment for newborns with genetically diagnosed SMA may improve outcomes.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 2","pages":"e213799"},"PeriodicalIF":7.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144512219","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Reasoning: Episodes of Uncontrollable Crying in a 52-Year-Old Man With a Sphenopetroclival Tumor.","authors":"Zeynep Özdemir, Stjepana Kovac, Walter Stummer, Michael Müther","doi":"10.1212/WNL.0000000000213847","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213847","url":null,"abstract":"<p><p>A 52-year-old man presented with progressive gait disturbances. MRI demonstrated a large extra-axial tumor in the cerebellopontine angle compressing the brainstem and resulting in hydrocephalus. While taking the patient's history, episodes of uncontrollable crying with sudden onset occurred multiple times. In this case report, we present and discuss the differential diagnoses of episodes of uncontrollable crying without emotional affect in adults and the possible underlying etiology.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 2","pages":"e213847"},"PeriodicalIF":7.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144507117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Teaching NeuroImage: Clinicoradiologic Clues in Aceruloplasminemia.","authors":"Nikolai Gil D Reyes, Priti Gros, Paula Alcaide-Leon, Anthony E Lang, Gabor G Kovacs","doi":"10.1212/WNL.0000000000213820","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213820","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 2","pages":"e213820"},"PeriodicalIF":7.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144289421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}