JAMA neurology最新文献

{"title":"Rethinking Neurology and Primary Care Teams-Two Heads Are Better Than One.","authors":"Ami Cuneo,Shuvro Roy,Raima M Amin,Thabele M Leslie-Mazwi","doi":"10.1001/jamaneurol.2025.3405","DOIUrl":"https://doi.org/10.1001/jamaneurol.2025.3405","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":"67 1","pages":""},"PeriodicalIF":29.0,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145058940","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":"A 62-Year-Old Man With Progressive Limb Weakness, Involuntary Movements, and HyperCKemia.","authors":"Ye Liu,Dekuan Meng,Yi Ouyang","doi":"10.1001/jamaneurol.2025.3201","DOIUrl":"https://doi.org/10.1001/jamaneurol.2025.3201","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":"38 1","pages":""},"PeriodicalIF":29.0,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145058987","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":"Diamond Sign in Calpainopathy.","authors":"Amlan Kusum Datta, Adreesh Mukherjee, Atanu Biswas","doi":"10.1001/jamaneurol.2025.3395","DOIUrl":"https://doi.org/10.1001/jamaneurol.2025.3395","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":""},"PeriodicalIF":21.3,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145064515","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":"Pattern of Recurrent Nontraumatic Intracerebral Hemorrhage.","authors":"Pang-Shuo Perng,Yu Chang","doi":"10.1001/jamaneurol.2025.3384","DOIUrl":"https://doi.org/10.1001/jamaneurol.2025.3384","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":"69 1","pages":""},"PeriodicalIF":29.0,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145058941","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":"Plasma Phosphorylated Tau 217 to Identify Preclinical Alzheimer Disease.","authors":"Gemma Salvadó,Shorena Janelidze,Divya Bali,Anna Orduña Dolado,Joseph Therriault,Wagner S Brum,Alexa Pichet Binette,Erik Stomrud,Niklas Mattsson-Carlgren,Sebastian Palmqvist,Emma M Coomans,Charlotte E Teunissen,Wiesje M van der Flier,Nesrine Rahmouni,Tammie L S Benzinger,Juan Domingo Gispert,Kaj Blennow,Vincent Doré,Azadeh Feizpour,Christopher C Rowe,Daniel Alcolea,Juan Fortea,Sylvia Villeneuve,Sterling C Johnson,Pedro Rosa-Neto,Ronald C Petersen,Clifford R Jack,Suzanne E Schindler,Marc Suárez-Calvet,Rik Ossenkoppele,Oskar Hansson, ","doi":"10.1001/jamaneurol.2025.3217","DOIUrl":"https://doi.org/10.1001/jamaneurol.2025.3217","url":null,"abstract":"ImportanceAdvances in Alzheimer disease (AD) have shifted research focus to earlier disease stages, necessitating more scalable approaches to identify cognitively unimpaired individuals with amyloid β (Aβ) pathology.ObjectiveTo assess the utility of plasma phosphorylated tau 217 (p-tau217) for classifying Aβ status in cognitively unimpaired individuals, both as a stand-alone test and in a 2-step approach where positive plasma results were confirmed using a second modality (Aβ positron emission tomography [PET] or cerebrospinal fluid [CSF]).Design, Setting, and ParticipantsThis cross-sectional cohort study used data collected between June 2009 and March 2024. We included 2916 cognitively unimpaired participants from 12 international independent observational cohorts in the US, Europe, Australia, and Canada with available plasma p-tau217 levels and CSF or PET Aβ biomarkers. Performance comparisons between mass spectrometry and immunoassay-based p-tau217 measurements were also performed (n = 964).ExposuresPlasma p-tau217 levels measured by immunoassay.Main Outcome and MeasuresAβ status, determined by CSF or Aβ PET biomarkers.ResultsParticipants had a mean (SD) age of 66.9 (9.9) years; 971 (33.3%) were Aβ positive by either CSF or PET, 1667 (57.2%) were women, and 1108 (38.1%) carried at least 1 APOE ε4 allele. As a stand-alone test, plasma p-tau217 achieved a positive predictive value (PPV) of 79% (95% CI, 74-84) and an overall accuracy of 81% (95% CI, 80-82). In a 2-step workflow, the PPV and accuracy significantly increased to 91% (95% CI, 86-95). While this approach required screening of 677 individuals with plasma p-tau217 to identify 100 Aβ-positive individuals, compared to 536 participants when using PET alone, it reduced the need for PET testing to 124. Immunoassays demonstrated comparable PPVs to mass spectrometry (80% [95% CI, 74-86] vs 85% [95% CI, 81-90]; P = .12) but significantly lower overall accuracy (82% [95% CI, 79-84]% vs 88 [95% CI, 86-90]; P < .001) and true Aβ-positive detection rate (49% [95% CI, 43-55] vs 69% [95% CI, 64-75]; P < .001).Conclusions and RelevanceThe findings highlight the potential of plasma p-tau217 as a stand-alone test-or when used in a sequential 2-step approach alongside PET or CSF testing-as a cost-effective, scalable, and minimally burdensome strategy for identifying preclinical AD. Tailored screening workflows that incorporate p-tau217 can improve efficiency in participant selection for preclinical AD trials and, in the future, help guide access to disease-modifying treatments.","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":"34 1","pages":""},"PeriodicalIF":29.0,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145059078","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":"Pattern of Recurrent Nontraumatic Intracerebral Hemorrhage-Reply.","authors":"Martina B Goeldlin,David J Seiffge","doi":"10.1001/jamaneurol.2025.3387","DOIUrl":"https://doi.org/10.1001/jamaneurol.2025.3387","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":"1 1","pages":""},"PeriodicalIF":29.0,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145059109","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":"Home Training for Cerebellar Ataxias: A Randomized Clinical Trial.","authors":"Scott Barbuto,Seonjoo Lee,Joel Stein,Sheng-Han Kuo,Lori Quinn,Michael Spinner,Yaakov Stern","doi":"10.1001/jamaneurol.2025.3421","DOIUrl":"https://doi.org/10.1001/jamaneurol.2025.3421","url":null,"abstract":"ImportanceClinical practice guidelines advise balance training for cerebellar ataxia, but little is known regarding high-intensity aerobic exercise.ObjectiveTo compare home high-intensity aerobic training to home balance training on improvements of ataxia symptoms using the Scale for the Assessment and Rating of Ataxia (SARA).Design, Setting, and ParticipantsThis assessor-masked randomized clinical trial was conducted between January 1, 2021, and September 1, 2024, through home training, with in-person assessments at a single ataxia care center in a large urban US city. Individuals with various cerebellar ataxia types were eligible for inclusion. Data analysis was performed from November 2024 to February 2025.InterventionsIndividuals in the aerobic group trained for 30 minutes/session, 5 times/week, at up to 85% predicted maximum heart rate. Individuals in the balance group performed 30 minutes of balance exercises of varying difficulty 5 times/week. Participants were given study support of biweekly phone calls for only the first 6 months of this 12-month study.Main Outcomes and MeasuresThe primary outcome was SARA score to measure ataxia symptoms (range, 0-40 points, with higher scores indicating more ataxia). Secondary outcomes included number of adverse events, training adherence, balance measures, gait speed, quality of life, fatigue, and fitness levels (assessed via V̇o2max). Assessments were conducted at baseline and at 6, 9, and 12 months.ResultsA total of 114 individuals with various cerebellar ataxia types were approached: 52 individuals declined participation or did not meet inclusion criteria, while 62 individuals were enrolled. The 62 participants included 29 women (46.8%), with a mean (SD) age of 54.4 (12.9) years and mean (SD) SARA score of 12.1 (4.1) points. Linear mixed-effects model analysis revealed that the home aerobic group had significantly larger improvement in outcomes than the balance group, particularly for SARA score (β, -1.53; 95% CI, -2.44 to -0.61; P = .001), fatigue (β, -9.38; 95% CI, -15.1 to -3.7; P = .001), and Vo2max (β, 4.26; 95% CI, 2.1-6.4; P < .001). At 6 months, the aerobic and balance groups had changes in SARA scores of -2.4 points (95% CI, -3.1 to -1.80) and -0.9 points (95% CI, -1.5 to -0.2), respectively. For the aerobic group, individuals who continued training maintained benefits in SARA score (change from baseline, -3.81 points; 95% CI, -2.2 to -5.4), whereas those who limited or stopped training had benefits trend back to baseline levels (change from baseline, 0.4 points; 95% CI, -0.4 to 1.2) at 1 year.Conclusions and RelevanceIn this randomized clinical trial, home high-intensity aerobic training improved ataxia symptoms, fatigue, and aerobic fitness more than dose-matched home balance training among individuals with cerebellar ataxias. Individuals in the aerobic group who continued to train regularly maintained benefits at 1 year.Trial RegistrationClinicalTrials.gov Identifier: NCT05002218.","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":"21 1","pages":""},"PeriodicalIF":29.0,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145058945","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":"Ambient Air Pollution and the Severity of Alzheimer Disease Neuropathology.","authors":"Boram Kim,Kaitlin Blam,Holly Elser,Sharon X Xie,Vivianna M Van Deerlin,Trevor M Penning,Daniel Weintraub,David J Irwin,Lauren M Massimo,Corey T McMillan,Dawn Mechanic-Hamilton,David A Wolk,Edward B Lee","doi":"10.1001/jamaneurol.2025.3316","DOIUrl":"https://doi.org/10.1001/jamaneurol.2025.3316","url":null,"abstract":"ImportanceExposure to fine particulate matter air pollution (PM2.5) may increase risk for dementia. It is unknown whether this association is mediated by dementia-related neuropathologic change found at autopsy.ObjectiveTo examine associations between PM2.5 exposure, dementia severity, and dementia-associated neuropathologic change.Design, Setting, and ParticipantsThis cohort study used data associated with autopsy cases collected from 1999 to 2022 at the Center for Neurodegenerative Disease Research Brain Bank at the University of Pennsylvania. Data were analyzed from January to June 2025. Participants included 602 cases with common forms of dementia and/or movement disorders and older controls after excluding 429 cases with missing data on neuropathologic measures, demographic factors, APOE genotype, or residential address.ExposuresOne-year mean PM2.5 concentration prior to death or prior to last Clinical Dementia Rating Sum of Boxes (CDR-SB) assessment was estimated using a spatiotemporal prediction model at residential addresses.Main Outcomes and MeasuresDementia severity was measured by CDR-SB scores. Ten dementia-associated neuropathologic measures representing Alzheimer disease, Lewy body disease, limbic-predominant age-related transactive response DNA-binding protein (TDP)-43 encephalopathy, and cerebrovascular disease were graded or staged. Linear, logistic, and structural equation models were used to examine the associations between PM2.5, CDR-SB, and neuropathologic measures, adjusting for demographic factors and APOE ε4 allele status.ResultsIn a total of 602 autopsy cases (median [IQR] age at death, 78 [71-85] years; 328 male [54.5%] and 274 female [45.5%]), higher PM2.5 exposure prior to death was associated with increased odds of more severe Alzheimer disease neuropathologic change (ADNC) (odds ratio, 1.19; 95% CI, 1.11-1.28). In a subset of 287 cases with CDR-SB records (median [IQR] age at death, 79 [72-86] years; 154 [53.7%] male and 133 female [46.3%]), higher PM2.5 exposure prior to CDR-SB assessment was associated with greater cognitive and functional impairment (β = 0.48; 95% CI, 0.22-0.74). Lastly, 63% of the association between higher PM2.5 exposure and greater cognitive and functional impairment was statistically mediated by ADNC (β = 0.30; 95% CI, 0.04-0.53).Conclusions and RelevanceIn this study, PM2.5 exposure was associated with increased dementia severity and increased ADNC. Population-based studies are needed to better understand this relationship.","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":"38 1","pages":""},"PeriodicalIF":29.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145008794","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":"Gadolinium-Enhanced Aneurysm Wall Imaging and Risk of Intracranial Aneurysm Growth or Rupture.","authors":"Qingyuan Liu,Xin Nie,Mervyn D I Vergouwen,Yuting Wang,Hongwei He,Jun Wu,Yi Yang,Shaohua Mo,Lei Chen,Mahmud Mossa-Basha,Michael R Levitt,Myriam Edjlali,Jiangan Li,Jinrui Ren,Bing Zhao,Shuo Wang,Peng Liu,Chengcheng Zhu","doi":"10.1001/jamaneurol.2025.3209","DOIUrl":"https://doi.org/10.1001/jamaneurol.2025.3209","url":null,"abstract":"ImportanceRecent longitudinal studies in patients with unruptured intracranial aneurysms (UIAs) suggested that aneurysm wall enhancement (AWE) on magnetic resonance imaging (MRI) predicts growth and rupture. However, because these studies were limited by small sample size and short follow-up duration, it remains unclear whether this radiological biomarker has predictive value for UIA instability.ObjectiveTo determine the 4-year risk of instability of UIAs with AWE and investigate whether AWE is an independent predictor of UIA instability.Design, Setting, and ParticipantsIndividual patient data were obtained from 3 prospective multicenter cohort studies conducted in 83 Chinese centers between January 2017 and December 2024. Included were patients aged 18 to 75 years with at least 1 asymptomatic, saccular UIA greater than or equal to 3 mm.ExposuresAll patients had 3-T MRI gadolinium-enhanced aneurysm wall imaging and computed tomography angiography (CTA) at baseline, and CTA at follow-up.Main Outcomes and MeasuresThe primary outcome measure was aneurysm growth or rupture (instability) during follow-up. The absolute risk of aneurysm instability in UIAs with circumferential, focal, and no AWE was determined with Kaplan-Meier estimates at 4 years after baseline aneurysm wall imaging. Cox proportional hazards regression was used to investigate AWE as a potential predictor of instability.ResultsOf the 1453 patients who had baseline 3-T MRI aneurysm wall imaging, 41 patients were excluded because of loss to follow-up or no follow-up CTA, and 61 patients were excluded because of low-quality CTA. We included 1351 patients (median [IQR] age, 56 [48-63] years; 750 female [56%]) with 1416 UIAs and 4884 aneurysm-years of follow-up. Instability within 4 years occurred in 235 of 1416 UIAs (16.6%). The absolute cumulative risk of instability at 4 years was 36.8% (95% CI, 30.7%-43.0%) in UIAs with circumferential AWE, 17.2% (95% CI, 13.4%-21.1%) in UIAs with focal AWE, and 11.4% (95% CI, 11.9%-16.1%) in UIAs with no AWE. Circumferential AWE predicted 4-year instability (hazard ratio [HR], 3.80; 95% CI, 2.82-5.14) and after adjusting for size ratio, aneurysm location, aneurysm shape, and bifurcation configuration (adjusted HR, 2.21; 95% CI, 1.56-3.13).Conclusions and RelevanceWithin 4 years after baseline wall imaging, instability occurred in one-third of UIAs with circumferential AWE. These results suggest that MRI aneurysm wall imaging may be used for predicting the risk of aneurysm instability.","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":"43 1","pages":""},"PeriodicalIF":29.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145008795","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":"Incidence and Prevalence of Frontotemporal Dementia: A Systematic Review and Meta-Analysis.","authors":"Daniele Urso,Stefano Giannoni-Luza,Carol Brayne,Nicolas Ray,Giancarlo Logroscino","doi":"10.1001/jamaneurol.2025.3307","DOIUrl":"https://doi.org/10.1001/jamaneurol.2025.3307","url":null,"abstract":"ImportanceComprehensive incidence and prevalence rates of frontotemporal dementia are currently not available.ObjectiveTo estimate the incidence and prevalence of frontotemporal dementia and its clinical variants in the overall population and age subgroups.Data Sources and Study SelectionWe systematically searched PubMed, EMBASE, and Scopus between January 1, 1990, and October 22, 2024, for population-based studies estimating the incidence and/or prevalence of FTD.Data Extraction and SynthesisStudies and data were screened and extracted independently by 2 investigators in accordance with PRISMA guidelines. Incident and prevalent cases together with the population at risk were pooled using random-effects meta-analysis. Differences in heterogeneity by FTD variants and populations at risk were estimated.Main Outcomes and MeasuresPrevalent and incident cases as numerator were based on well-defined clinical criteria. Denominators were derived either from census population data or from author-defined populations at risk.ResultsFrom 1854 screened articles, 32 eligible population-based studies were identified. Sixteen were on prevalence and 22 on incidence reporting FTD measures, including those with estimates for the whole population and for specific age subgroups. Pooled crude incidence for FTD was 2.28 (95% CI, 1.55-3.36) per 100 000 person-years and prevalence, 9.17 (95% CI, 3.59-23.42) per 100 000 people. The behavioral-variant FTD pooled crude incidence was 1.20 (95% CI, 0.67-2.16) per 100 000 person-years and prevalence, 9.74 (95% CI, 2.90-32.73) per 100 000 people. The primary progressive aphasia variant pooled crude incidence was 0.52 (95% CI, 0.35-0.79) per 100 000 person-years and prevalence, 3.67 (95% CI, 3.05-4.43). FTD incidence among individuals younger than 65 years was 1.84 (95% CI, 0.79-4.30) per 100 000 person-years and prevalence, 7.47 (95% CI, 4.13-13.49) per 100 000 people. The denominator based on census data showed less heterogeneity than the population at risk defined by the authors (I2: for incidence, 91.6% vs 97.6%, respectively, and for prevalence, 98.8% vs 99.2%, respectively).Conclusions and RelevanceIn this systematic review and meta-analysis, estimates indicate that FTD is comparable in frequency to dementia with Lewy bodies and occurs at higher rates than progressive supranuclear palsy, corticobasal syndrome, and amyotrophic lateral sclerosis. These results provide a foundation for future research and public health strategy, especially for underrepresented populations, to better comprehend the global burden of FTD. Our findings provide robust pooled estimates of the incidence and prevalence of FTD and its subtypes, offering a foundation for future research and public health planning.","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":"40 1","pages":""},"PeriodicalIF":29.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145008796","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}