JAMA neurology最新文献

{"title":"Errors in the Title, Short Title, and Additional Contributions.","authors":"","doi":"10.1001/jamaneurol.2024.4924","DOIUrl":"10.1001/jamaneurol.2024.4924","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"311"},"PeriodicalIF":20.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11894491/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142970873","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":"Five-Year Results With Patisiran for Hereditary Transthyretin Amyloidosis With Polyneuropathy: A Randomized Clinical Trial With Open-Label Extension.","authors":"David Adams, Jonas Wixner, Michael Polydefkis, John L Berk, Isabel M Conceição, Angela Dispenzieri, Amanda Peltier, Mitsuharu Ueda, Shaun Bender, Kelley Capocelli, Patrick Y Jay, Elena Yureneva, Laura Obici","doi":"10.1001/jamaneurol.2024.4631","DOIUrl":"10.1001/jamaneurol.2024.4631","url":null,"abstract":"<p><strong>Importance: </strong>There is a lack of long-term efficacy and safety data on hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) and on RNA interference (RNAi) therapeutics in general. This study presents the longest-term data to date on patisiran for hATTR-PN.</p><p><strong>Objective: </strong>To present the long-term efficacy and safety of patisiran in adults with hATTR-PN.</p><p><strong>Design, setting, and participants: </strong>This global open-label extension (OLE) of the APOLLO randomized clinical trial and phase 2 OLE study enrolled patients from 43 hospitals or clinical centers across 19 countries between July 2015 and August 2017, with follow-up until November 2022. Of 212 eligible patients with hATTR who completed the phase 3 APOLLO or phase 2 OLE parent studies, 211 enrolled in and 138 completed the global OLE.</p><p><strong>Intervention: </strong>Patisiran, 0.3 mg/kg, intravenously once every 3 weeks for up to 5 years.</p><p><strong>Main outcomes and measures: </strong>Outcomes evaluated at year 5 of the global OLE included disability (polyneuropathy disability [PND] score); polyneuropathy severity (Neuropathy Impairment Score [NIS]), nutritional status (modified body mass index [mBMI]), quality of life (Norfolk Quality of Life-Diabetic Neuropathy [Norfolk QOL-DN]), and Rasch-Built Overall Disability Scale (R-ODS), with no statistical hierarchy. Safety, survival probability, and mortality were also assessed.</p><p><strong>Results: </strong>At the global OLE baseline, the mean (SD) age was 61.3 (12.3) years, and 156 patients (73.9%) were male. In 138 patients completing the study, PND scores remained stable or improved in 89 patients (65.0%), NISs showed a mean (SD) change of 10.9 (14.7), and mean (SD) mBMI (calculated as weight in kilograms divided by height in meters squared times serum albumin in grams per liter) increased by 46.4 (120.7) over 5 years from baseline. Norfolk QOL-DN and R-ODS scores showed mean (SD) changes of 4.1 (16.7) and -3.7 (6.2), respectively. Adverse events (AEs) leading to study withdrawal occurred in 47 patients (22.3%). Infusion-related reactions were the most common treatment-related AE (n = 34 [16.1%]). Overall, 41 patients (19.4%) died during the study. Patisiran treatment in the parent study and low familial amyloid polyneuropathy score at parent study baseline were associated with significantly improved survival.</p><p><strong>Conclusions and relevance: </strong>In the longest study of an RNAi therapeutic for any disease, patisiran treatment resulted in modest changes for patients with hATTR-PN with an acceptable safety profile. These results highlight the importance of initiating early treatment for hATTR and the potential of RNAi therapeutics in medicine.</p><p><strong>Trial registration: </strong>ClinicalTrials.gov Identifier: NCT02510261.</p>","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"228-236"},"PeriodicalIF":20.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11894486/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142970875","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":"Cognitive Effects of MR-Guided Focused Ultrasound Thalamotomy-Time to Evaluation.","authors":"Mickael Aubignat, Olivier Godefroy","doi":"10.1001/jamaneurol.2024.4785","DOIUrl":"10.1001/jamaneurol.2024.4785","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"309"},"PeriodicalIF":20.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046722","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":"Protecting Neural Data Privacy-First, Do No Harm.","authors":"Sean Pauzauskie, Jared Genser, Rafael Yuste","doi":"10.1001/jamaneurol.2024.4070","DOIUrl":"10.1001/jamaneurol.2024.4070","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"212-213"},"PeriodicalIF":20.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142768922","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":"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}