JAMA neurology最新文献

{"title":"Ischemic Stroke Due to Compression of a Wandering Internal Carotid Artery by the Hyoid Bone.","authors":"François Bouille, Maxime De Malherbe, Fernando Pico","doi":"10.1001/jamaneurol.2024.5028","DOIUrl":"10.1001/jamaneurol.2024.5028","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"303-304"},"PeriodicalIF":20.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080028","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":"Brain Biomarkers for Pain Sensitivity.","authors":"Prasad Shirvalkar, Christopher J Rozell","doi":"10.1001/jamaneurol.2024.4743","DOIUrl":"10.1001/jamaneurol.2024.4743","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"216-217"},"PeriodicalIF":20.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046721","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":"Teleneurorehabilitation and Motor and Nonmotor Symptoms and Quality of Life in Parkinson Disease: The TELEPARK Randomized Clinical Trial.","authors":"Rajinder K Dhamija, Alvee Saluja, Divyani Garg, Sonal Chauhan, Ritu Majumdar, Shikha Bhatnagar Bhardwaj, Ravi Preenja, Dimple Kashyap, Mayowa O Owolabi","doi":"10.1001/jamaneurol.2024.5387","DOIUrl":"10.1001/jamaneurol.2024.5387","url":null,"abstract":"<p><strong>Importance: </strong>To our knowledge, no randomized clinical trials have compared the efficacy and safety of teleneurorehabilitation (TNR) with in-person rehabilitation in Parkinson disease (PD) during the COVID-19 pandemic lockdown.</p><p><strong>Objective: </strong>To assess the efficacy and safety of TNR among patients with PD during the COVID-19 lockdown.</p><p><strong>Design, setting, and participants: </strong>The TELEPARK single-center, assessor-blinded, randomized clinical trial was conducted over 11 months from September 2020 to July 2021, with follow-up after 12 weeks. Final data could be analyzed on July 1, 2024. Patients aged 18 years or older diagnosed with idiopathic PD with Hoehn and Yahr stage 1 to 2.5, Mini-Mental State Examination score of 24 or higher, and who possessed a smartphone allowing videocalling were eligible for inclusion and randomized to in-person or TNR therapy.</p><p><strong>Intervention: </strong>The in-person group received physiotherapy, aerobic, and breathing exercises for 30 minutes in person once a week for 4 weeks and then once every 2 weeks for 8 weeks. The TNR group received in-person sessions on day 1, followed by supervised sessions via videocalling once a week for the first 4 weeks, then once every 2 weeks for 8 weeks.</p><p><strong>Main outcome and measures: </strong>The primary outcome was mean change in the Movement Disorder Society-Unified Parkinson's Disease Rating Scale III (MDS-UPDRS III) postintervention score from baseline. Mean changes in postintervention MDS-UPDRS II and III, Non-Motor Symptom Scale (NMSS), Parkinson's Disease Questionnaire-8 Summary Index (PDQ8-SI), 6-minute walk test (6MWT), and functional reach test (FRT) scores from baseline between groups was assessed using unpaired t tests.</p><p><strong>Results: </strong>A total of 63 participants (28 in-person and 35 TNR) were analyzed. Mean (SD) ages in the in-person and TNR groups were 60.50 (7.08) years and 62.80 (12.46) years, respectively. Twelve of 28 patients in the in-person group (42.9%) and 16 of 35 patients in the TNR group (45.7%) were female. Mean (SD) MDS-UPDRS III scores were significantly lower following TNR (pre-TNR: 35.17 [17.72] vs post-TNR: 28.6 [19.7]; P = .001). Mean (SD) change in postintervention MDS-UPDRS III scores was not significantly different between the 2 groups (TNR: -6.74 [11.07] vs in-person: -7.54 [10.52]; P = .39). Median changes in NMSS and PDQ8-SI scores were similar between the groups.</p><p><strong>Conclusions and relevance: </strong>TNR is safe and effective in improving motor and nonmotor symptoms and quality of life among Indian patients with PD.</p>","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":""},"PeriodicalIF":20.4,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11851302/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483003","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":"Evolving Perspectives on α-Synuclein Testing.","authors":"Cameron Dietiker, Caroline Tanner","doi":"10.1001/jamaneurol.2024.5403","DOIUrl":"https://doi.org/10.1001/jamaneurol.2024.5403","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":""},"PeriodicalIF":20.4,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143482926","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":"Detection of Epileptogenic Focal Cortical Dysplasia Using Graph Neural Networks: A MELD Study.","authors":"Mathilde Ripart, Hannah Spitzer, Logan Z J Williams, Lennart Walger, Andrew Chen, Antonio Napolitano, Camilla Rossi-Espagnet, Stephen T Foldes, Wenhan Hu, Jiajie Mo, Marcus Likeman, Theodor Rüber, Maria Eugenia Caligiuri, Antonio Gambardella, Christopher Guttler, Anna Tietze, Matteo Lenge, Renzo Guerrini, Nathan T Cohen, Irene Wang, Ane Kloster, Lars H Pinborg, Khalid Hamandi, Graeme Jackson, Domenico Tortora, Martin Tisdall, Estefania Conde-Blanco, Jose C Pariente, Carmen Perez-Enriquez, Sofia Gonzalez-Ortiz, Nandini Mullatti, Katy Vecchiato, Yawu Liu, Reetta Kalviainen, Drahoslav Sokol, Jay Shetty, Benjamin Sinclair, Lucy Vivash, Anna Willard, Gavin P Winston, Clarissa Yasuda, Fernando Cendes, Russell T Shinohara, John S Duncan, J Helen Cross, Torsten Baldeweg, Emma C Robinson, Juan Eugenio Iglesias, Sophie Adler, Konrad Wagstyl, Abdulah Fawaz, Alessandro De Benedictis, Luca De Palma, Kai Zhang, Angelo Labate, Carmen Barba, Xiaozhen You, William D Gaillard, Yingying Tang, Shan Wang, Shirin Davies, Mira Semmelroch, Mariasavina Severino, Pasquale Striano, Aswin Chari, Felice D'Arco, Kshitij Mankad, Nuria Bargallo, Saul Pascual-Diaz, Ignacio Delgado-Martinez, Jonathan O'Muircheartaigh, Eugenio Abela, Jothy Kandasamy, Ailsa McLellan, Patricia Desmond, Elaine Lui, Terence J O'Brien, Kirstie Whitaker","doi":"10.1001/jamaneurol.2024.5406","DOIUrl":"10.1001/jamaneurol.2024.5406","url":null,"abstract":"<p><strong>Importance: </strong>A leading cause of surgically remediable, drug-resistant focal epilepsy is focal cortical dysplasia (FCD). FCD is challenging to visualize and often considered magnetic resonance imaging (MRI) negative. Existing automated methods for FCD detection are limited by high numbers of false-positive predictions, hampering their clinical utility.</p><p><strong>Objective: </strong>To evaluate the efficacy and interpretability of graph neural networks in automatically detecting FCD lesions on MRI scans.</p><p><strong>Design, setting, and participants: </strong>In this multicenter diagnostic study, retrospective MRI data were collated from 23 epilepsy centers worldwide between 2018 and 2022, as part of the Multicenter Epilepsy Lesion Detection (MELD) Project, and analyzed in 2023. Data from 20 centers were split equally into training and testing cohorts, with data from 3 centers withheld for site-independent testing. A graph neural network (MELD Graph) was trained to identify FCD on surface-based features. Network performance was compared with an existing algorithm. Feature analysis, saliencies, and confidence scores were used to interpret network predictions. In total, 34 surface-based MRI features and manual lesion masks were collated from participants, 703 patients with FCD-related epilepsy and 482 controls, and 57 participants were excluded during MRI quality control.</p><p><strong>Main outcomes and measures: </strong>Sensitivity, specificity, and positive predictive value (PPV) of automatically identified lesions.</p><p><strong>Results: </strong>In the test dataset, the MELD Graph had a sensitivity of 81.6% in histopathologically confirmed patients seizure-free 1 year after surgery and 63.7% in MRI-negative patients with FCD. The PPV of putative lesions from the 260 patients in the test dataset (125 female [48%] and 135 male [52%]; mean age, 18.0 [IQR, 11.0-29.0] years) was 67% (70% sensitivity; 60% specificity), compared with 39% (67% sensitivity; 54% specificity) using an existing baseline algorithm. In the independent test cohort (116 patients; 62 female [53%] and 54 male [47%]; mean age, 22.5 [IQR, 13.5-27.5] years), the PPV was 76% (72% sensitivity; 56% specificity), compared with 46% (77% sensitivity; 47% specificity) using the baseline algorithm. Interpretable reports characterize lesion location, size, confidence, and salient features.</p><p><strong>Conclusions and relevance: </strong>In this study, the MELD Graph represented a state-of-the-art, openly available, and interpretable tool for FCD detection on MRI scans with significant improvements in PPV. Its clinical implementation holds promise for early diagnosis and improved management of focal epilepsy, potentially leading to better patient outcomes.</p>","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":""},"PeriodicalIF":20.4,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11851297/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143482925","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":"Correction to Acknowledge Nonauthor Collaborators and Remove Potentially Identifiable Patient Information.","authors":"","doi":"10.1001/jamaneurol.2025.0076","DOIUrl":"10.1001/jamaneurol.2025.0076","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":""},"PeriodicalIF":20.4,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11851294/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143482923","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":"Temporal Dynamics and Biological Variability of Alzheimer Biomarkers.","authors":"Jihwan Yun, Daeun Shin, Eun Hye Lee, Jun Pyo Kim, Hongki Ham, Yuna Gu, Min Young Chun, Sung Hoon Kang, Hee Jin Kim, Duk L Na, Chi-Hun Kim, Ko Woon Kim, Si Eun Kim, Yeshin Kim, Jaeho Kim, Na-Yeon Jung, Yeo Jin Kim, Soo Hyun Cho, Henrik Zetterberg, Kaj Blennow, Fernando Gonzalez-Ortiz, Nicholas J Ashton, Joseph Therriault, Nesrine Rahmouni, Pedro Rosa-Neto, Michael W Weiner, Sang Won Seo, Hyemin Jang","doi":"10.1001/jamaneurol.2024.5263","DOIUrl":"10.1001/jamaneurol.2024.5263","url":null,"abstract":"<p><strong>Importance: </strong>Understanding the characteristics of discordance between plasma biomarkers and positron emission tomography (PET) results in Alzheimer disease (AD) is crucial for accurate interpretation of the findings.</p><p><strong>Objective: </strong>To compare (1) medical comorbidities affecting plasma biomarker concentrations, (2) imaging and clinical features, and (3) cognitive changes between plasma biomarker and PET discordant and concordant cases.</p><p><strong>Design, setting, and participants: </strong>This multicenter cohort study, conducted between 2016 and 2023, included individuals with unimpaired cognition, mild cognitive impairment, or Alzheimer-type dementia, who had both amyloid β (Aβ) PET imaging and plasma biomarkers. A subset of participants also underwent tau PET imaging.</p><p><strong>Exposures: </strong>Participants were categorized into 4 groups based on their plasma and PET biomarker results: plasma-/PET-, plasma+/PET-, plasma-/PET+, and plasma+/PET+.</p><p><strong>Main outcomes and measures: </strong>Clinical characteristics were compared between the 4 groups, focusing on the discordant groups.</p><p><strong>Results: </strong>A total of 2611 participants (mean [SD] age was 71.2 [8.7] years; 1656 female [63.4%]), of whom 124 additionally underwent tau PET, were included. Among the plasma biomarkers, phosphorylated tau (p-tau) 217 exhibited the highest concordance rate with Aβ (2326 of 2571 [90.5%]) and tau (100 of 120 [83.3%]) PET. The p-tau217+/Aβ PET- group was older (mean [SD] age, 75.8 [7.2] years vs 70.0 [8.8] years; P < .001) with a higher prevalence of hypertension (56 of 152 [36.8%] vs 266 of 1073 [25.0%]), diabetes (40 of 152 [26.3%] vs 156 of 1059 [14.7%]), and chronic kidney disease (17 of 152 [11.2%] vs 21 of 1073 [2.0%]) compared with the p-tau217-/Aβ PET- group (P < .001 for all). Body mass index was higher in p-tau217-/Aβ PET+ than in p-tau217+/Aβ PET+ (mean [SD], 24.1 [2.8] vs 23.1 [3.1], respectively; P = .001; calculated as weight in kilograms divided by height in meters squared). The p-tau217+/Aβ PET- group had lower hippocampal volume (mean [SD], 2555.4 [576.9] vs 2979.1 [545.8]; P < .001) and worse clinical trajectory compared with p-tau217-/Aβ PET- (β = -0.53; P < .001). In contrast, tau PET discordant cases did not show significant differences in medical comorbidities or clinical outcomes compared with the p-tau217-/tau PET- group. Only the p-tau 217+/tau PET+ group demonstrated faster cognitive deterioration compared with the p-tau 217-/tau PET- group (β = -1.66; P < .001).</p><p><strong>Conclusions and relevance: </strong>Results of this cohort study suggest that the mechanisms underlying the discordance between plasma biomarkers and PET findings may be multifaceted, underscoring the need to consider the temporal dynamics and biological variability of plasma biomarkers.</p>","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":""},"PeriodicalIF":20.4,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11833660/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440815","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":"Verdiperstat in Amyotrophic Lateral Sclerosis: Results From the Randomized HEALEY ALS Platform Trial.","authors":"Jinsy Andrews, Sabrina Paganoni, Eric A Macklin, Lori B Chibnik, Melanie Quintana, Benjamin R Saville, Michelle A Detry, Matteo Vestrucci, Joseph Marion, Anna McGlothlin, Eufrosina Young, Marianne Chase, Lindsay Pothier, Brittney Harkey, Hong Yu, Alex Sherman, Jeremy Shefner, Meghan Hall, Gale Kittle, Mariah R Connolly, James D Berry, Derek D'Agostino, Eric Tustison, Elisa Giacomelli, Erica Scirocco, Gustavo Alameda, Eduardo Locatelli, Doreen Ho, Adam Quick, Daragh Heitzman, Senda Ajroud-Driss, Stanley H Appel, Sheetal Shroff, Jonathan Katz, Kevin Felice, Nicholas J Maragakis, Zachary Simmons, Stephen A Goutman, Nicholas Olney, Timothy Miller, Joseph Americo Fernandes, Hristelina Ilieva, Omar Jawdat, Michael D Weiss, Laura Foster, Tuan Vu, Shafeeq Ladha, Margaret Ayo Owegi, Daniel S Newman, Ximena Arcila-Londono, Carlayne E Jackson, Andrea Swenson, Terry Heiman-Patterson, James Caress, Dominic Fee, Amanda Peltier, Richard Lewis, Jeffrey Rosenfeld, David Walk, Kristin Johnson, Matthew Elliott, Edward J Kasarskis, Seward Rutkove, Courtney E McIlduff, Richard Bedlack, Lauren Elman, Namita A Goyal, Kourosh Rezania, Paul Twydell, Michael Benatar, Jonathan Glass, Jeffrey A Cohen, Vovanti Jones, Lindsay Zilliox, James P Wymer, Said R Beydoun, Jaimin Shah, Gary L Pattee, Jennifer Martinez-Thompson, Shakti Nayar, Volkan Granit, Mary Donohue, Katheryn Grossman, Daniel J Campbell, Irfan A Qureshi, Merit E Cudkowicz, Suma Babu","doi":"10.1001/jamaneurol.2024.5249","DOIUrl":"10.1001/jamaneurol.2024.5249","url":null,"abstract":"<p><strong>Importance: </strong>Myeloperoxidase is one of the most abundant peroxidase enzymes in activated myeloid cells. Myeloperoxidase inhibitors may have a clinical benefit in amyotrophic lateral sclerosis (ALS) by slowing neurodegeneration via reduced neuroinflammation and oxidative stress.</p><p><strong>Objective: </strong>To determine the safety, tolerability, and efficacy of verdiperstat, a selective myeloperoxidase inhibitor, in ALS.</p><p><strong>Design, settings, and participants: </strong>Verdiperstat was tested as a regimen of the HEALEY ALS Platform Trial, a multicenter, double-blind, perpetual platform design, randomized clinical trial, with sharing of trial infrastructure and placebo data across multiple regimens. The study was conducted at 54 ALS referral centers across the US from July 2020 to April 2022. Adult participants with a diagnosis of clinically possible, probable, laboratory-supported probable, or definite ALS defined by the revised El Escorial criteria were randomized to verdiperstat or regimen-specific placebo. An additional group of participants concurrently randomized to placebo from other regimens was included in the analyses.</p><p><strong>Interventions: </strong>Eligible participants were randomized in a 3:1 ratio to receive oral verdiperstat, 600 mg, twice daily or matching placebo for a planned placebo-controlled duration of 24 weeks.</p><p><strong>Main outcomes and measures: </strong>The primary efficacy outcome was change from baseline through week 24 in disease severity, as measured by a joint model of ALS Functional Rating Scale-Revised and survival, with the treatment effect quantified by the disease rate ratio (DRR), with DRR less than 1 indicating a slowing in disease progression of verdiperstat relative to placebo.</p><p><strong>Results: </strong>A total of 167 participants (mean [SD] age, 58.5 [11.4] years; 59 [35.3%] female; 108 [64.6%] male) were randomized to either verdiperstat (126 [75.4%]) or to placebo (41 [25.6%]). Among the participants randomized to the verdiperstat regimen, 130 (78%) completed the trial. The estimated DRR was 0.98 (95% credible interval, 0.77-1.24; posterior probability = 0.57 for slowing of disease progression [DRR <1]). Verdiperstat was estimated to slow progression by 2% vs placebo (95% credible interval, -23% to 24%; posterior probability 0.57). Verdiperstat was overall safe and well tolerated. Common adverse events in the verdiperstat group were nausea, insomnia, and elevated thyrotropin levels.</p><p><strong>Conclusions and relevance: </strong>Results demonstrate that treatment with verdiperstat was unlikely to alter disease progression in ALS.</p><p><strong>Trial registration: </strong>Clinical Trial Identifiers: NCT04297683 and NCT04436510.</p>","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":""},"PeriodicalIF":20.4,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11833655/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604844","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":"Computer Vision in Clinical Neurology","authors":"Maximilian U. Friedrich, Samuel Relton, David Wong, Jane Alty","doi":"10.1001/jamaneurol.2024.5326","DOIUrl":"https://doi.org/10.1001/jamaneurol.2024.5326","url":null,"abstract":"ImportanceNeurological examinations traditionally rely on visual analysis of physical clinical signs, such as tremor, ataxia, or nystagmus. Contemporary score-based assessments aim to standardize and quantify these observations, but these tools suffer from clinimetric limitations and often fail to capture subtle yet important aspects of human movement. This poses a significant roadblock to more precise and personalized neurological care, which increasingly focuses on early stages of disease. Computer vision, a branch of artificial intelligence, has the potential to address these challenges by providing objective measures of neurological signs based solely on video footage.ObservationsRecent studies highlight the potential of computer vision to measure disease severity, discover novel biomarkers, and characterize therapeutic outcomes in neurology with high accuracy and granularity. Computer vision may enable sensitive detection of subtle movement patterns that escape the human eye, aligning with an emerging research focus on early disease stages. However, challenges in accessibility, ethics, and validation need to be addressed for widespread adoption. In particular, improvements in clinical usability and algorithmic robustness are key priorities for future developments.Conclusions and RelevanceComputer vision technologies have the potential to revolutionize neurological practice by providing objective, quantitative measures of neurological signs. These tools could enhance diagnostic accuracy, improve treatment monitoring, and democratize specialized neurological care. Clinicians should be aware of these emerging technologies and their potential to complement traditional assessment methods. However, further research focusing on clinical validation, ethical considerations, and practical implementation is necessary to fully realize the potential of computer vision in clinical neurology.","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":"24 1","pages":""},"PeriodicalIF":29.0,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143427372","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":"Detection of Alzheimer Neuropathology in Alzheimer and Non-Alzheimer Clinical Syndromes With Blood-Based Biomarkers","authors":"Lawren VandeVrede, Hanna Cho, Mark Sanderson-Cimino, Fattin Wekselman, Yann Cobigo, Maria Luisa Gorno-Tempini, Hilary W. Heuer, Joel H. Kramer, Argentina Lario Lago, Dana Leichter, Peter Ljubenkov, Bruce L. Miller, David C. Perry, Gil D. Rabinovici, Julio C. Rojas, Howard J. Rosen, Rowan Saloner, Adam Staffaroni, Gallen Triana-Baltzer, Salvatore Spina, William W. Seeley, Lea T. Grinberg, Hartmuth C. Kolb, Renaud La Joie, Adam L. Boxer","doi":"10.1001/jamaneurol.2024.5017","DOIUrl":"https://doi.org/10.1001/jamaneurol.2024.5017","url":null,"abstract":"ImportanceBlood-based biomarkers for Alzheimer disease (AD) are clinically available, but their value is not well understood in syndromes typically associated with frontotemporal lobar degeneration syndromes (FTLD).ObjectiveTo investigate the clinical importance and detectability of AD in FTLD-related neurodegenerative syndromes using 3 plasma biomarkers, phosphorylated tau 217 (p-tau217), neurofilament light chain (NfL), and glial fibrillary acidic protein (GFAP).Design, Setting, and ParticipantsThis clinicopathological study took place at the University of California San Francisco Alzheimer Disease Research Center from August 2008 to July 2022. Autopsied individuals with clinical evaluation and neuropathological examination, diagnosed with clinical syndromes related to AD (n = 125), frontotemporal lobar degeneration (FTLD; n = 198), or cognitively unimpaired (CU) at the time of evaluation (n = 16) were included.ExposuresAD-related or FTLD-related clinical syndromes or CU.Main Outcomes and MeasuresP-tau217, NfL, and GFAP were measured with single-molecule array (SIMOA). AD was defined as intermediate or high AD neuropathological change (ADNC) at autopsy. Clinical biomarker associations were evaluated using linear regressions. Imaging analyses used bayesian linear mixed-effects modeling.ResultsA total of 349 individuals (191 [55%] male; mean [SD] age at death, 72 [11] years) were included. AD was common in both AD-related syndromes (110/125 [88%]) and FTLD-related syndromes (45/198 [23%]). Neuropathological stage at autopsy was higher in AD-related syndromes (high ADNC: 82/88 [93%] AD vs 13/23 [56%] FTLD), and AD was frequently considered a copathology in FTLD-related syndromes (30/198 [15%]). Plasma p-tau217 concentrations were higher in AD-related syndromes (mean [SD], 0.28 [0.16] pg/mL) than FTLD-related syndromes (mean [SD], 0.10 [0.09] pg/mL) (&lt;jats:italic&gt;P&lt;/jats:italic&gt; &amp;amp;lt; .05). Plasma p-tau217 concentrations were highest in atypical AD-related syndromes (mean [SD], 0.33 [0.02] pg/mL), followed by typical late-onset amnestic syndromes (mean [SD], 0.27 [0.03] pg/mL). FTLD-related syndromes with AD (mean [SD], 0.19 [0.02] pg/mL) were higher compared to without (mean [SD], 0.07 [0.00] pg/mL). Plasma p-tau217 detected AD neuropathology across syndromes (area under the receiver operating characteristic curve [AUC], 0.95; 95% CI, 0.93-0.97), with slightly better performance in AD-related syndromes (AUC, 0.98; 95% CI, 0.95-1.00) compared to FTLD-related syndromes (AUC, 0.89; 95% CI, 0.83-0.94). NfL and GFAP had lower performance for detecting AD (AUC, 0.73; 95% CI, 0.68-0.78 and AUC, 0.75; 95% CI, 0.67-0.80, respectively) and added little to no diagnostic value either alone or in combinations with p-tau217. The presence of AD in FTLD-related syndromes was associated with lower Mini-Mental State Examination score (mean [SD], −2.90 [1.09]; &lt;jats:italic&gt;P&lt;/jats:italic&gt; &amp;amp;lt; .05), worse performance on memory (mean [SD] &lt;jats:italic&gt;","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":"12 1","pages":""},"PeriodicalIF":29.0,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143375363","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}