Neurology最新文献

{"title":"Child Neurology: TRAPPC4-Related Neurodevelopmental Disorder.","authors":"Andreia Forno, Joana Oliveira, Marta Zegre Amorim, Carla Conceição, Paulo Rego Sousa","doi":"10.1212/WNL.0000000000213538","DOIUrl":"10.1212/WNL.0000000000213538","url":null,"abstract":"<p><p>Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, first described in 2020, is associated with autosomal recessive inheritance of pathogenic variant in the <i>TRAPPC4</i> gene. Given a relatively high carrier frequency, it is crucial to recognize and consider this diagnosis. We report 2 sisters with pathogenic homozygous variants (c.454+3A>G) in the <i>TRAPPC4</i> gene, diagnosed after an extensive and time-consuming clinical investigation. This report reviews the phenotypic spectrum of TRAPPC4-related neurodevelopmental disorder, particularly homozygous pathogenic variant c.454+3A>G in <i>TRAPPC4</i>, to raise awareness of this diagnosis.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 9","pages":"e213538"},"PeriodicalIF":7.7,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772768","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":"Editors' Note: Prehospital Lactate Testing and Short-Term Mortality in Patients With Traumatic Brain Injury.","authors":"Aravind Ganesh,Steven L Galetta","doi":"10.1212/wnl.0000000000213697","DOIUrl":"https://doi.org/10.1212/wnl.0000000000213697","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"42 1","pages":"e213697"},"PeriodicalIF":9.9,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143945156","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":"Reader Response: Prehospital Lactate Levels Obtained in the Ambulance and Prediction of 2-Day In-Hospital Mortality in Patients With Traumatic Brain Injury.","authors":"Guangtang Chen,Kaya Xu","doi":"10.1212/wnl.0000000000209996","DOIUrl":"https://doi.org/10.1212/wnl.0000000000209996","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"32 1","pages":"e209996"},"PeriodicalIF":9.9,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143945165","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: A 62-Year-Old Man With Symmetric Saddle Hypoesthesia and Sphincter Dysfunction.","authors":"Lorane Crausaz,Thomas Baumgartner,Valentin Loser","doi":"10.1212/wnl.0000000000213712","DOIUrl":"https://doi.org/10.1212/wnl.0000000000213712","url":null,"abstract":"A 62-year-old man presented with acute onset of symmetric burning dysesthesias in the buttocks, accompanied by saddle hypoesthesia and bladder, bowel, and sexual dysfunction. Initially, the clinical presentation was suggestive of cauda equina syndrome. However, the initial contrast-enhanced lumbar MRI revealed no evidence of extrinsic compression or enhancement of the lumbosacral nerve roots or conus medullaris. Further diagnostic workup uncovered a rare etiology, highlighting the importance of considering uncommon causes in the case of acute conus medullaris syndrome.","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"39 1","pages":"e213712"},"PeriodicalIF":9.9,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143945162","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":"3D Electron Microscopic Visualization of Nemaline Rods in a Case of Congenital Myopathy.","authors":"Carsten Dittmayer,Hans H Goebel,Claudia Weiß,Markus Schuelke,Werner Stenzel","doi":"10.1212/wnl.0000000000213683","DOIUrl":"https://doi.org/10.1212/wnl.0000000000213683","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"76 1","pages":"e213683"},"PeriodicalIF":9.9,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143945157","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":"Evolution of Cortical Lesions and Function-Specific Cognitive Decline in People With Multiple Sclerosis.","authors":"Eva A Krijnen,Julia Jelgerhuis,Maureen Van Dam,Piet M Bouman,Frederik Barkhof,Eric C Klawiter,Hanneke E Hulst,Eva M M Strijbis,Menno M Schoonheim","doi":"10.1212/wnl.0000000000213650","DOIUrl":"https://doi.org/10.1212/wnl.0000000000213650","url":null,"abstract":"BACKGROUND AND OBJECTIVESCortical lesions in multiple sclerosis (MS) severely affect cognition, but their longitudinal evolution and impact on specific cognitive functions remain understudied. This study investigates the evolution of function-specific cognitive functioning over 10 years in people with MS and assesses the influence of cortical lesion load and formation on these trajectories.METHODSIn this prospectively collected study, people with MS underwent 3T MRI (T1 and fluid-attenuated inversion recovery) at 3 study visits between 2008 and 2022. Cognitive functioning was evaluated based on neuropsychological assessment reflecting 7 cognitive functions: attention; executive functioning (EF); information processing speed (IPS); verbal fluency; and verbal, visuospatial, and working memory. Cortical lesions were manually identified on artificial intelligence-generated double-inversion recovery images. Linear mixed models were constructed to assess the temporal evolution between cortical lesion load and function-specific cognitive decline. In addition, analyses were stratified by MS disease stage: early and late relapsing-remitting MS (cutoff disease duration at 15 years) and progressive MS.RESULTSThe study included 223 people with MS (mean age, 47.8 ± 11.1 years; 153 women) and 62 healthy controls. All completed 5-year follow-up, and 37 healthy controls and 94 with MS completed 10-year follow-up. At baseline, people with MS exhibited worse functioning of IPS and working memory. Over 10 years, cognitive decline was most severe in attention, verbal memory, and EF. At baseline, people with MS had a median cortical lesion count of 7 (range 0-73), which was related to subsequent decline in attention (B[95% CI] = -0.22 [-0.40 to -0.03]) and verbal fluency (B[95% CI] = -0.23[-0.37 to -0.09]). Over time, cortical lesions increased by a median count of 4 (range -2 to 71), particularly in late and progressive disease, and was related to decline in verbal fluency (B [95% CI] = -0.33 [-0.51 to -0.15]). The associations between (change in) cortical lesion load and cognitive decline were not modified by MS disease stage.DISCUSSIONCognition worsened over 10 years, particularly affecting attention, verbal memory, and EF, while preexisting impairments were worst in other functions such as IPS. Worse baseline cognitive functioning was related to baseline cortical lesions, whereas baseline cortical lesions and cortical lesion formation were related to cognitive decline in functions less affected at baseline. Accumulating cortical damage leads to spreading of cognitive impairments toward additional functions.","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"29 1","pages":"e213650"},"PeriodicalIF":9.9,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143945161","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":"The Boston Criteria v2.0 for Cerebral Amyloid Angiopathy: A SCUBA Dive Exploration.","authors":"Andreas Charidimou","doi":"10.1212/wnl.0000000000213716","DOIUrl":"https://doi.org/10.1212/wnl.0000000000213716","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"4 1","pages":"e213716"},"PeriodicalIF":9.9,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143945163","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: Progressive Headache and Diplopia in an 89-Year-Old Man.","authors":"Mathieu Riand,Davide Strambo,Delfyne Hastir,Vincent Dunet,Mathias Van Singer,Constantin Tuleasca,Simon Diaz,Caroline Pot,Raphael Bernard-Valnet","doi":"10.1212/wnl.0000000000213660","DOIUrl":"https://doi.org/10.1212/wnl.0000000000213660","url":null,"abstract":"An 89-year-old man presented with a 3-year history of chronic daily headaches that significantly worsened over the past 4 months. Initially episodic, the left-sided headaches became continuous and were accompanied by systemic symptoms such as weight loss and elevated inflammatory markers, specifically C-reactive protein and erythrocyte sedimentation rate. Over subsequent weeks, the neurologic examination revealed new-onset left-sided ophthalmoplegia, ptosis, and marked visual acuity loss. This article explores the differential diagnosis for such a complex clinical presentation and highlights how a systematic diagnostic approach can guide clinicians toward the correct diagnosis.","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"35 1","pages":"e213660"},"PeriodicalIF":9.9,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143932497","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":"Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy.","authors":"Itaru Hayakawa,Saeko Irie,Yuichi Abe","doi":"10.1212/wnl.0000000000213682","DOIUrl":"https://doi.org/10.1212/wnl.0000000000213682","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"126 1","pages":"e213682"},"PeriodicalIF":9.9,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143932490","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":"Mediation of the Association Between APOE ε4 Genotype, Cognition, and Dementia by Neuropathology Imaging Markers in the Rotterdam Study.","authors":"Jacqueline J Claus,Mathijs T Rosbergen,Jeremy A Labrecque,Meike W Vernooij,Frank J Wolters,Mohammad Arfan Ikram","doi":"10.1212/wnl.0000000000213679","DOIUrl":"https://doi.org/10.1212/wnl.0000000000213679","url":null,"abstract":"BACKGROUND AND OBJECTIVESInsight into APOE-related pathways is important to unravel pathophysiology and identify therapeutic targets against late-life cognitive decline. We aimed to estimate mediators of APOE ε4 on cognition and dementia through different disease markers on structural in vivo brain imaging.METHODSAll participants from the population-based Rotterdam Study who underwent brain MRI between 2005 and 2009 were included. Cognition was assessed cross-sectionally during center visits, and participants were followed up for incident dementia until January 1, 2020. Imaging markers included hippocampal volume (HV), volume of white matter hyperintensities (WMHs), Alzheimer disease-specific regional cortical thickness, and presence of ≥2 cerebral microbleeds. We performed causal mediation analyses to decompose the total effect of APOE ε4 carriership on cognition and dementia into natural direct and indirect effects and corresponding percentage mediated. We adjusted models for potential confounders.RESULTSAmong 5,510 participants (mean age at time of MRI scan: 65.0 [±10.9] years, 55.0% women), 349 developed dementia, of whom 148 were ε4 carriers. Carriers of ε4 had slightly lower Z-scores for global cognition (β = -0.02 [-0.07 to 0.02], age-related cognitive decline = 4.4 months), with 7% (β = -0.00 [0.00-0.00]) of this association mediated by HV and 4% (β = -0.00 [-0.01 to 0.00]) by cortical thickness. In total, an estimated 25% of the effect of ε4 on cognition was mediated by microbleeds (p value = 0.24, [β = -0.00 {-0.01 to 0.00}]) and 12% by WMHs (p value = 0.44, [β = -0.00 {-0.01 to 0.00}]). In multiple mediator analyses, WMHs and microbleeds together accounted for 27% of the mediated effect of APOE ε4 on cognition (p value = 0.48). Carriers of ε4 had higher risk of incident dementia (HR 2.35 [95% CI 2.06-2.65]). For dementia, there was little to no evidence of mediation by either HV (3%, p value = 0.09, OR = 1.01 [1.00-1.03]) or regional cortical thickness (0%, p value = 0.79, OR = 1.00 [0.99-1.02]). In total, 1% of the effect of ε4 on dementia was mediated by WMHs (p value 0.29, OR = 1.00 [1.00-1.02]) and 5% by microbleeds (p value = 0.06), OR = 1.03 (1.00-1.07). In multiple mediator analyses, all 4 imaging markers together explained 6% of the mediated effect on incident dementia (p value = 0.04).DISCUSSIONIn this population-based cohort study, we found that an estimated one-fourth of the effect of APOE ε4 on cognition is mediated by structural brain imaging markers, driven mainly by cerebral microbleeds. For dementia, mediation by these markers was limited.","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"10 1","pages":"e213679"},"PeriodicalIF":9.9,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143932488","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}