Neurology最新文献

{"title":"Amyloid Spikes on Optical Coherence Tomography Demonstrating Ocular Involvement in ATTRv Amyloidosis.","authors":"Rebecca T Hsu, James Wilson, Chafic Karam","doi":"10.1212/WNL.0000000000213481","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213481","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 9","pages":"e213481"},"PeriodicalIF":7.7,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143784434","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":"Statistical Practice of Ordinal Outcome Analysis in Neurologic Trials: A Literature Review.","authors":"Yongxi Long, Sophie C de Ruiter, Linda W G Luijten, Eveline J A Wiegers, Diederik W J Dippel, Pieter A Van Doorn, Bart C Jacobs, Ewout W Steyerberg","doi":"10.1212/WNL.0000000000213550","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213550","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 9","pages":"e213550"},"PeriodicalIF":7.7,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144022723","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":"Perspectives of People With Multiple Sclerosis Regarding Data Linkage and Sharing.","authors":"Ruth Ann Marrie, Mudita Sharma, Gary R Cutter, Robert J Fox, Amber Salter","doi":"10.1212/WNL.0000000000213587","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213587","url":null,"abstract":"<p><strong>Objectives: </strong>Linkage of clinical trial data to other data such as administrative data could enhance understanding of long-term outcomes. We investigated attitudes of people with multiple sclerosis (MS) regarding external linkage of clinical trial data.</p><p><strong>Methods: </strong>In a cross-sectional survey, North American Research Committee on Multiple Sclerosis registry participants reported willingness to share identifiers to support linkage of their clinical trial data to administrative health databases and preferences for long-term trial follow-up. Polytomous regression tested factors associated with agreeing to administrative data linkage.</p><p><strong>Results: </strong>Of 6,998 potential participants, 4,980 (71.2%) responded. Of 4,662 respondents meeting eligibility criteria, 3,524 participants (75.6%) indicated that they would agree or might agree to allow administrative data access. Participants were most willing to share their initials (43.7% definitely, 26.8% perhaps). Higher education (odds ratio [OR] 1.51; 1.19-1.93) and income (≥$100,000 vs <$50,000 OR 1.74; 1.17-2.59), alcohol consumption (OR range 1.77-2.27), and previous trial participation (yes/no, OR 1.89; 1.44-2.49) were associated with willingness to allow data access while Black race was associated with unwillingness (0.41; 0.20-0.82).</p><p><strong>Discussion: </strong>A substantial proportion of people with MS would potentially agree to data sharing and linkage to support clinical trials. Future studies should establish generalizability of these findings.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 9","pages":"e213587"},"PeriodicalIF":7.7,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143811781","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":"2024 Annual Meeting Abstracts.","authors":"","doi":"10.1212/WNL.0000000000209922","DOIUrl":"https://doi.org/10.1212/WNL.0000000000209922","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 9","pages":"e209922"},"PeriodicalIF":7.7,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803835","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":"Objective Criteria for Subtle Cognitive Decline in Aging and Preclinical Alzheimer Disease: A Systematic Review.","authors":"Kelsey R Thomas, Emily C Edmonds","doi":"10.1212/WNL.0000000000213536","DOIUrl":"10.1212/WNL.0000000000213536","url":null,"abstract":"<p><strong>Background and objectives: </strong>Although the Alzheimer's Association (AA) biomarker-only Alzheimer disease (AD) criteria and the International Working Group clinical-pathologic AD criteria differ, both approaches appreciate the need for early detection efforts. Within the AA approach, clinical stage 2 recognizes that someone can be cognitively unimpaired but still experience \"subtle cognitive decline\" (SCD) measured by subjective report or objective decline using neuropsychological measures. While significant attention has been given to subjective cognitive decline methods, there are no systematic examinations of the operational definition of SCD using objective neuropsychological measures. Therefore, the primary aim of this review was to identify and describe the approaches used to classify objective SCD.</p><p><strong>Methods: </strong>A systematic literature search was performed using PubMed/MEDLINE, Web of Science, and PsycInfo databases for articles with dates ranging from the start of the database through November 1, 2023. Included studies were peer-reviewed, described a discrete objective SCD category, included participants aged 50+ without mild cognitive impairment (MCI) or dementia, and focused on aging or AD. A modified Newcastle-Ottawa Scale was used to assess the quality of included studies. Data were extracted by the 2 authors who then categorized and described the classification approaches.</p><p><strong>Results: </strong>Of the 1,361 publications initially identified, 70 case-control studies met criteria for inclusion. SCD definitions generally fell into 6 categories based on using similar methodology: (1) SCD based on a specified cutoff on a single cognitive test (n = 6); (2) SCD based on a cutoff (e.g., 10th percentile) on a cognitive composite score (n = 9); (3) objectively defined SCD (Obj-SCD) using cutoffs (e.g., -1 SD) on multiple individual neuropsychological measures (n = 24); (4) \"Pre-MCI\" criteria defined using a Clinical Dementia Rating of 0.5 but normal performance on neuropsychological testing (n = 12); (5) cutoff based on longitudinal rate of cognitive decline (e.g., over 1 year) (n = 13); and (6) data-driven/clustering approach to classification (n = 8). Two studies used multiple classification approaches.</p><p><strong>Discussion: </strong>Six promising classification approaches were identified in the existing literature, with the Obj-SCD and Pre-MCI approaches being the most commonly applied. Additional work is needed to compare SCD approaches head-to-head to identify the most prognostically useful, particularly within racially/ethnically diverse older adults.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 9","pages":"e213536"},"PeriodicalIF":7.7,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11995284/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143811577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Validating the Amyloid Cascade Through the Revised Criteria of Alzheimer's Association Workgroup 2024 for Alzheimer Disease.","authors":"Augusto J Mendes,Federica Ribaldi,Michela Pievani,Cecilia Boccalini,Valentina Garibotto,Giovanni B Frisoni,","doi":"10.1212/wnl.0000000000213675","DOIUrl":"https://doi.org/10.1212/wnl.0000000000213675","url":null,"abstract":"BACKGROUND AND OBJECTIVESThe amyloid cascade hypothesis posits that Alzheimer disease (AD) progresses from amyloid deposition to tau deposition, neurodegeneration, and eventually cognitive impairment and is the foundation of the revised criteria of Alzheimer's Association Workgroup 2024 (AA-2024). To account for copathologies and cognitive resilience that affect the penetrance of the AD cascade, AA-2024 introduced a 2-dimensional biological-clinical staging framework. We aimed to estimate the proportion of persons along the AD continuum whose biological and clinical trajectories align with the amyloid cascade.METHODSCross-sectional data of the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort were tested in the 4 × 4 biological/clinical staging matrix adapted from the AA-2024 criteria. Biological stages were defined by amyloid and tau-PET burden: stage A (amyloid positivity, A+), stage B (medial temporal tau, A+/T2MTL+), stage C (moderate neocortical tau, A+/T2MOD+), and stage D (high neocortical tau, A+/T2HIGH+). Clinical stages were cognitively unimpaired (stage 1), subtle cognitive impairment (stage 2), mild cognitive impairment (stage 3), and dementia (stages 4-6). Tau-PET cutoffs were defined through the implementation of 5 distinct methods. Participants were categorized into (1) compliant with the amyloid cascade (matrix diagonal), (2) resilient (advanced biological stage-early clinical stage), and (3) copathologic (early biological stage-advanced clinical stage). Observed distributions were compared with hypothetical scenarios with zero and high amyloid cascade penetrance using the χ2 test, and differences among the 5 methods were tested using the Cochran Q test.RESULTSTwo-hundred and fifty-six amyloid-positive individuals (mean age: 72.7 years; 51% female) from the ADNI cohort were considered. The proportion of participants compliant with the amyloid cascade was between 31% (95% CI 25%-37%) and 36% (95% CI 30%-42%) depending on the tau-PET cutoff method. The observed number of individuals compliant with the amyloid cascade was higher than in the zero-penetrance scenario but lower than in the high-penetrance distribution (p < 0.01). The proportion of copathologic (17%-63%) and resilient (6%-52%) individuals varied widely by tau-PET cutoff (p < 0.001).DISCUSSIONOnly approximately one-third of persons with an AA-2024 diagnosis of AD complied with the predictions of the amyloid cascade hypothesis. These results suggest the heterogeneity in how clinical symptoms and pathology are coupled along the AD continuum, which has significant implications for interpreting completed antiamyloid clinical trials and designing future studies.","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"38 1","pages":"e213675"},"PeriodicalIF":9.9,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143945244","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":"Stability and Accuracy of a Diagnosis of Parkinson Disease Over 10 Years.","authors":"Valtteri Räty, Tomi Kuusimäki, Joonas Majuri, Tero Vahlberg, Maria Gardberg, Tommi Noponen, Marko Seppänen, Anna-Maija Tolppanen, Valtteri Kaasinen","doi":"10.1212/WNL.0000000000213499","DOIUrl":"10.1212/WNL.0000000000213499","url":null,"abstract":"<p><strong>Background and objectives: </strong>Accurate diagnosis of Parkinson disease (PD) remains challenging, with variability and clinical uncertainty, especially in nonspecialized settings. Despite advancements in diagnostic criteria and biological markers, misdiagnosis continues to affect patient care and research. This study aimed to assess the long-term diagnostic stability of PD and evaluate the accuracy of initial diagnoses over time in a large, consecutive cohort diagnosed by neurologists, with or without movement disorder specialization.</p><p><strong>Methods: </strong>We conducted a retrospective longitudinal analysis of patients diagnosed with PD between 2006 and 2020. Patient records were reviewed over a median follow-up period of 10 years, with more than half of the cohort tracked from motor symptom onset to death. Diagnostic evaluations included dopamine transporter (DAT) imaging and neuropathologic examinations for a subset of patients, based on clinical indications. Two movement disorder specialists cross-validated diagnoses through retrospective chart reviews.</p><p><strong>Results: </strong>The cohort included 1,626 patients (mean age 69.0 years, 44.1% female). Of these, 10.6% (n = 172) had their diagnoses revised by treating neurologists, and 2.7% (n = 44) were revised based on chart reviews or neuropathologic findings. The median time to diagnosis revision was 22 months (interquartile range = 43). The most common revised diagnoses were vascular parkinsonism, progressive supranuclear palsy, and multiple system atrophy, with 4.7% (n = 77) classified as clinically undetermined parkinsonism. In a secondary analysis separating PD and dementia with Lewy bodies (DLB), the revision rate increased to 17.7%. DAT imaging had been performed on 588 patients and was more frequently used in revised cases. Postmortem neuropathologic examinations had been conducted in only 3% of deceased patients, with 64% confirming the initial PD diagnosis.</p><p><strong>Discussion: </strong>This study demonstrates significant diagnostic instability in PD, with 13.3% of diagnoses revised, primarily within 2 years. When DLB is considered separately, the revision rate increases to 17.7%. Despite frequent DAT imaging and limited postmortem examinations, clinical uncertainty persists among practicing neurologists, contrasting with lower misdiagnosis rates in specialized centers. These findings highlight the need for systematic application of diagnostic criteria, regular reevaluation of diagnoses, more frequent autopsies, and the development of accessible diagnostic biomarkers.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 9","pages":"e213499"},"PeriodicalIF":7.7,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970931/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143784401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vertebrobasilar Dolichoectasia Presenting With Multiple Cranial Nerve Involvement.","authors":"Aurélien Freiherr von Seckendorff, Romain Deschamps, Augustin Lecler","doi":"10.1212/WNL.0000000000213541","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213541","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 9","pages":"e213541"},"PeriodicalIF":7.7,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772809","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":"Having Second Thoughts About Parkinson Diagnosis.","authors":"Ronald B Postuma","doi":"10.1212/WNL.0000000000213594","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213594","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 9","pages":"e213594"},"PeriodicalIF":7.7,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143784400","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":"Connected Speech Alterations and Progression in Patients With Primary Progressive Aphasia Variants.","authors":"Elisa Canu, Federica Agosta, Laura Lumaca, Silvia Basaia, Veronica Castelnovo, Sofia Santicioli, Stefano Pisano, Elena Gatti, Alessandra Lamanuzzi, Edoardo Gioele Spinelli, Giordano Cecchetti, Francesca Caso, Giuseppe Magnani, Paola Caroppo, Sara Prioni, Cristina Villa, Stefano F Cappa, Massimo Filippi","doi":"10.1212/WNL.0000000000213524","DOIUrl":"10.1212/WNL.0000000000213524","url":null,"abstract":"<p><strong>Background and objectives: </strong>Diagnosing the different variants of primary progressive aphasia (PPA) is challenging, but more accurate characterization can improve patient management and treatment outcomes. This study aimed to identify the following: (1) which speech features, alone or combined with language assessment and gray matter volumes (GMVs), best distinguish PPA variants and (2) how connected speech evolves in PPA.</p><p><strong>Methods: </strong>This prospective study was conducted at IRCCS San Raffaele Hospital in Milan, Italy, between 2010 and 2021. We included patients with PPA who underwent neuropsychological assessments, including standard evaluation of language and the \"Picnic Scene\" speech test, and, when available, brain structural MRI. Clinical and language assessments were also performed at follow-up in a subgroup. Sequential feature selection models identified speech parameters that best differentiated groups, incorporating age, sex, education, standard language tests, and GMVs. In each PPA group, linear mixed-effect models analyzed speech changes over time.</p><p><strong>Results: </strong>We included 95 patients with PPA (mean age 69 ± 9 years, 55 women [58%]; 40 with nonfluent variant PPA [nfvPPA], 35 with semantic variant PPA [svPPA], 20 with logopenic variant PPA [lvPPA]), of whom 82 underwent brain MRI and 34 had a follow-up visit after 10.2 months. Each model distinguished svPPA from the other PPA groups with high accuracy (<i>R</i>² range 0.93-1.00; <i>p</i> < 0.001). No differences in accuracy were observed among models for this distinction. In differentiating nfvPPA and lvPPA groups, the models incorporating speech parameters (<i>R</i>² = 0.92; <i>p</i> < 0.001), GMVs (<i>R</i>² = 0.95; <i>p</i> < 0.001), and their combination (speech + GMVs; <i>R</i>² = 0.97; <i>p</i> < 0.001) outperformed those using only standard language scores (<i>R</i>² = 0.75; <i>p</i> = 0.01). Over time, patients with nfvPPA showed more phonological errors, the svPPA group exhibited more semantic and morphosyntactic errors along with difficulties in naming and syntax production, and patients with lvPPA exhibited reduced number of words per second and fewer words per sentence.</p><p><strong>Discussion: </strong>All models were equally effective in distinguishing the svPPA group from the other 2 PPA subtypes. However, compared with using standard measures alone, incorporating speech measures from the \"Picnic Scene\" speech test, GMVs, or their combination into the models significantly improved accuracy in differentiating nfvPPA and lvPPA groups. The PPA variants showed distinct speech trajectories. These variables can aid in understanding disease progression, predicting patient outcomes, and planning speech therapy interventions in clinical practice.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"104 9","pages":"e213524"},"PeriodicalIF":7.7,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11974258/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803898","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}