JAMA neurology最新文献

{"title":"β-Blocker Use and Delayed Onset and Progression of Huntington Disease","authors":"Jordan L. Schultz, Amy C. Ogilvie, Lyndsay A. Harshman, Peg C. Nopoulos","doi":"10.1001/jamaneurol.2024.4108","DOIUrl":"https://doi.org/10.1001/jamaneurol.2024.4108","url":null,"abstract":"ImportanceHuntington disease (HD) is characterized by motor, cognitive, and psychiatric decline. β-Blockers may play a therapeutic role by decreasing enhanced sympathetic tone in HD.ObjectiveTo evaluate the impact of β-blockers on the timing of motor diagnosis onset and progression of HD symptoms.Design, Setting, and ParticipantsThis observational, longitudinal multicenter study used the Enroll-HD platform database (initiated September 2011 to present), including propensity score–matched cohorts of patients with premanifest HD (preHD) and early motor-manifest HD (mmHD) who were either users or nonusers of β-blockers. Participants included patients with genetically confirmed preHD (n = 4683 eligible participants) or mmHD (n = 3024 eligible participants) who were taking a β-blocker and were matched to similar non–β-blocker users.ExposureUninterrupted use of a β-blocker for more than 1 year.Main Outcomes and MeasuresFor PreHD: risk of receiving a motor diagnosis of HD over time. For mmHD: progression rate of total motor score, total functional capacity score, and the symbol digit modalities test. Post hoc analyses were performed to test additional clarifying hypotheses after the primary analyses were completed.ResultsThis study included 174 preHD β-blocker users (59 males; 115 females) with a mean age of 46.4 (SD, 13.1) years and a mean cytosine-adenine guanine repeat length of 41.1 (SD, 2.4) who were well matched to 174 preHD non–β-blocker users. The preHD β-blocker users showed a statistically significant reduction in the annualized hazard of receiving a motor diagnosis compared with nonusers (n = 174) (hazard ratio, 0.66; 95% CI, 0.46-0.94; <jats:italic>P</jats:italic> = .02). There were 149 mmHD β-blocker users (86 males; 60 females) with a mean age of 58.9 (SD, 11.3) years and a mean cytosine-adenine guanine repeat length of 42.0 (SD, 2.3) matched to 149 mmHD non–β-blocker users. The β-blocker users had a slower mean annualized worsening in total motor score (mean difference [MD], −0.45; 95% CI, −0.85 to −0.06; q = 0.025), total functional capacity score (MD, 0.10; 95% CI, 0.02-0.18; q = 0.025), and symbol digit modalities test (MD, 0.33; 95% CI, 0.10-0.56; q = 0.017) compared with matched nonusers.Conclusions and RelevanceIn this study, β-blocker use was associated with delayed motor onset in preHD and reduced the rate of worsening of symptoms in mmHD. These findings demonstrated that β-blockers may have a therapeutic role in HD but further studies are required.","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":"50 1","pages":""},"PeriodicalIF":29.0,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142758593","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":"Crossed Clonus Response.","authors":"Sourav Hazra, Rajinder K Dhamija, Siddharth Maheshwari","doi":"10.1001/jamaneurol.2024.3488","DOIUrl":"10.1001/jamaneurol.2024.3488","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"1314-1315"},"PeriodicalIF":20.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142465717","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 Clown With Traumatic Brain Injury.","authors":"S Thomas Carmichael","doi":"10.1001/jamaneurol.2024.3622","DOIUrl":"10.1001/jamaneurol.2024.3622","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"1243-1244"},"PeriodicalIF":20.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142500621","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":"Development and Validation of a Clinical Score to Predict Epilepsy After Cerebral Venous Thrombosis.","authors":"Erik Lindgren, Liqi Shu, Naaem Simaan, Katarzyna Krzywicka, Maria A de Winter, Mayte Sánchez van Kammen, Jeremy Molad, Piers Klein, Hen Hallevi, Rani Barnea, Mirjam R Heldner, Sini Hiltunen, Diana Aguiar de Sousa, José M Ferro, Antonio Arauz, Jukka Putaala, Marcel Arnold, Thanh N Nguyen, Christoph Stretz, Turgut Tatlisumak, Katarina Jood, Shadi Yaghi, Ronen R Leker, Jonathan M Coutinho, Maryam Mansour, Patrícia Canhão, Esme Ekizoglu, Miguel Rodrigues, Elisa M Silva, Carlos Garcia-Esperon, Valentina Arnao, Shorooq Aladin, Rom Mendel, Paolo Aridon, Mine Sezgin, Andrey Alasheev, Andrey Smolkin, Daniel Guisado-Alonso, Nilufer Yesilot, Miguel A Barboza, Masoud Ghiasian, Suzanne M Silvis, Ton Fang, James E Siegler, Teddy Wu, Duncan Wilson, Syed Daniyal Asad, Sami Al Kasab, Eyad Almallouhi, Jennifer Frontera, Aaron Rothstein, Ekaterina Bakradze, Setareh Salehi Omran, Nils Henninger, Lindsey Kuohn, Adeel Zubair, Richa Sharma, Deborah Kerrigan, Yasmin Aziz, Eva Mistry, Susanna M Zuurbier","doi":"10.1001/jamaneurol.2024.3481","DOIUrl":"10.1001/jamaneurol.2024.3481","url":null,"abstract":"<p><strong>Importance: </strong>One of 10 patients develop epilepsy in the late phase after cerebral venous thrombosis (CVT) diagnosis but predicting the individual risk is difficult.</p><p><strong>Objective: </strong>To develop and externally validate a prognostic score to estimate the individual risk of post-CVT epilepsy.</p><p><strong>Design, setting, and participants: </strong>This observational cohort study included both retrospective and prospective patients enrolled from 1994 through 2022. For development of the DIAS3 score, data from the International CVT Consortium (n = 1128), a large international hospital-based multicenter CVT cohort, were used. For validation, data from 2 independent multicenter cohorts, the ACTION-CVT (n = 543) and the Israel CVT study (n = 556), were used. Of 2937 eligible, consecutively enrolled adult patients with radiologically verified CVT, 710 patients with a history of epilepsy prior to CVT, follow-up less than 8 days, and missing late seizure status were excluded.</p><p><strong>Exposure: </strong>The prediction score (DIAS3) was developed based on available literature and clinical plausibility and consisted of 6 readily available clinical variables collected during the acute phase: decompressive hemicraniectomy, intracerebral hemorrhage at presentation, age, seizure(s) in the acute phase (excluding status epilepticus), status epilepticus in the acute phase, and subdural hematoma at presentation.</p><p><strong>Main outcome and measure: </strong>Time to a first late seizure, defined as occurring more than 7 days after diagnosis of CVT.</p><p><strong>Results: </strong>Of 1128 patients included in the derivation cohort (median age, 41 [IQR, 30-53] years; 805 women [71%]), 128 (11%) developed post-CVT epilepsy during a median follow-up of 12 (IQR, 3-26) months. According to the DIAS3 score, the predicted 1-year and 3-year risk of epilepsy in individual patients ranged from 7% to 68% and 10% to 83%, respectively. Internal and external validation showed adequate discrimination in the derivation cohort (1 year and 3 years: C statistic, 0.74; 95% CI, 0.70-0.79) and the 2 independent validation cohorts, (ACTION-CVT) 1 year: C statistic, 0.76; 95% CI, 0.67-0.84; 3 years: C statistic, 0.77; 95% CI, 0.66-0.84; and Israel CVT study 1 year: C statistic, 0.80; 95% CI, 0.75-0.86. Calibration plots indicated adequate agreement between predicted and observed risks.</p><p><strong>Conclusions and relevance: </strong>The DIAS3 score (freely available online) is a simple tool that can help predict the risk of post-CVT epilepsy in individual patients. The model can improve opportunities for personalized medicine and may aid in decision-making regarding antiseizure medication, patient counseling, and facilitation of research on epileptogenesis in CVT.</p>","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"1274-1283"},"PeriodicalIF":20.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11581563/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142465718","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":"Alzheimer Disease-What's in a Name?","authors":"Ronald C Petersen, Elizabeth Mormino, Julie A Schneider","doi":"10.1001/jamaneurol.2024.3766","DOIUrl":"10.1001/jamaneurol.2024.3766","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"1245-1246"},"PeriodicalIF":20.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557845","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":"Mobile Stroke Units-Time for Legislation and Remuneration.","authors":"Babak B Navi, Pooja Khatri","doi":"10.1001/jamaneurol.2024.3627","DOIUrl":"10.1001/jamaneurol.2024.3627","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"1247-1249"},"PeriodicalIF":20.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142500623","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":"Mobile Stroke Unit Management in Patients With Acute Ischemic Stroke Eligible for Intravenous Thrombolysis.","authors":"Brian Mac Grory, Jie-Lena Sun, Brooke Alhanti, Jay Lusk, Fan Li, Opeolu Adeoye, Karen Furie, David Hasan, Steven Messe, Kevin N Sheth, Lee H Schwamm, Eric E Smith, Deepak L Bhatt, Gregg C Fonarow, Jeffrey L Saver, Ying Xian, James Grotta","doi":"10.1001/jamaneurol.2024.3659","DOIUrl":"10.1001/jamaneurol.2024.3659","url":null,"abstract":"<p><strong>Importance: </strong>Clinical trials have suggested that prehospital management in a mobile stroke unit (MSU) improves functional outcomes in patients with acute ischemic stroke who are potentially eligible for intravenous thrombolysis, but there is a paucity of real-world evidence from routine clinical practice on this topic.</p><p><strong>Objective: </strong>To determine the association between prehospital management in an MSU vs standard emergency medical services (EMS) management and the level of global disability at hospital discharge.</p><p><strong>Design, setting, and participants: </strong>This was a retrospective, observational, cohort study that included consecutive patients with a final diagnosis of ischemic stroke who received either prehospital management in an MSU or standard EMS management between August 1, 2018, and January 31, 2023. Follow-up ended at hospital discharge. The primary analytic cohort included those who were potentially eligible for IV thrombolysis. A separate, overlapping cohort including all patients regardless of diagnosis was also analyzed. Patient data were obtained from the American Heart Association's Get With The Guidelines-Stroke (GWTG-Stroke) Program, a nationwide, multicenter quality assurance registry. This analysis was completed in May 2024.</p><p><strong>Exposure: </strong>Prehospital management in an MSU (vs standard EMS management).</p><p><strong>Main outcomes and measures: </strong>The primary efficacy end point was the utility-weighted modified Rankin Scale (UW-mRS) score. The secondary efficacy end point was independent ambulation status. The coprimary safety end points were symptomatic intracranial hemorrhage (sICH) and in-hospital mortality.</p><p><strong>Results: </strong>Of 19 433 patients (median [IQR] age, 73 [62-83] years; 9867 female [50.8%]) treated at 106 hospitals, 1237 (6.4%) received prehospital management in an MSU. Prehospital management in an MSU was associated with a better score on the UW-mRS at discharge (adjusted mean difference, 0.03; 95% CI, 0.01-0.05) and a higher likelihood of independent ambulation at discharge (53.3% [468 of 878 patients] vs 48.3% [5868 of 12 148 patients]; adjusted risk ratio [aRR], 1.08; 95% CI, 1.03-1.13). There was no statistically significant difference in sICH (5.2% [57 of 1094] vs 4.2% [545 of 13 014]; aRR, 1.30; 95% CI, 0.94-1.75]) or in-hospital mortality (5.7% [70 of 1237] vs 6.2% [1121 of 18 196]; aRR, 1.03; 95% CI, 0.78-1.27) between the 2 groups.</p><p><strong>Conclusions and relevance: </strong>Among patients with acute ischemic stroke potentially eligible for intravenous thrombolysis, prehospital management in an MSU compared with standard EMS management was associated with a significantly lower level of global disability at hospital discharge. These findings support policy efforts to expand access to prehospital MSU management.</p>","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"1250-1262"},"PeriodicalIF":20.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11581552/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142500622","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":"Alzheimer Disease as a Clinical-Biological Construct-An International Working Group Recommendation.","authors":"Bruno Dubois, Nicolas Villain, Lon Schneider, Nick Fox, Noll Campbell, Douglas Galasko, Miia Kivipelto, Frank Jessen, Bernard Hanseeuw, Mercè Boada, Frederik Barkhof, Agneta Nordberg, Lutz Froelich, Gunhild Waldemar, Kristian Steen Frederiksen, Alessandro Padovani, Vincent Planche, Christopher Rowe, Alexandre Bejanin, Agustin Ibanez, Stefano Cappa, Paulo Caramelli, Ricardo Nitrini, Ricardo Allegri, Andrea Slachevsky, Leonardo Cruz de Souza, Andrea Bozoki, Eric Widera, Kaj Blennow, Craig Ritchie, Marc Agronin, Francisco Lopera, Lisa Delano-Wood, Stéphanie Bombois, Richard Levy, Madhav Thambisetty, Jean Georges, David T Jones, Helen Lavretsky, Jonathan Schott, Jennifer Gatchel, Sandra Swantek, Paul Newhouse, Howard H Feldman, Giovanni B Frisoni","doi":"10.1001/jamaneurol.2024.3770","DOIUrl":"10.1001/jamaneurol.2024.3770","url":null,"abstract":"<p><strong>Importance: </strong>Since 2018, a movement has emerged to define Alzheimer disease (AD) as a purely biological entity based on biomarker findings. The recent revision of the Alzheimer's Association (AA) criteria for AD furthers this direction. However, concerns about a purely biological definition of AD being applied clinically, the understanding of AD by society at large, and the translation of blood-based biomarkers into clinical practice prompt these International Working Group (IWG) updated recommendations.</p><p><strong>Objective: </strong>To consider the revised AA criteria and to offer an alternative definitional view of AD as a clinical-biological construct for clinical use. The recommendations of the 2021 IWG diagnostic criteria are updated for further elaborating at-risk and presymptomatic states.</p><p><strong>Evidence review: </strong>PubMed was searched for articles published between July 1, 2020, and March 1, 2024, using the terms \"biomarker\" OR \"amyloid\" OR \"tau\" OR \"neurodegeneration\" OR \"preclinical\" OR \"CSF\" OR \"PET\" OR \"plasma\" AND \"Alzheimer's disease.\" The references of relevant articles were also searched.</p><p><strong>Findings: </strong>In the new AA diagnostic criteria, AD can be defined clinically as encompassing cognitively normal people having a core 1 AD biomarker. However, recent literature shows that the majority of biomarker-positive cognitively normal individuals will not become symptomatic along a proximate timeline. In the clinical setting, disclosing a diagnosis of AD to cognitively normal people with only core 1 AD biomarkers represents the most problematic implication of a purely biological definition of the disease.</p><p><strong>Conclusions and relevance: </strong>The ultimate aim of the field was to foster effective AD treatments, including preventing symptoms and dementia. The approach of diagnosing AD without a clinical and biological construct would be unwarranted and potentially concerning without a clear knowledge of when or whether symptoms will ever develop. It is recommended that those who are amyloid-positive only and, more generally, most biomarker-positive cognitively normal individuals, should not be labeled as having AD. Rather, they should be considered as being at risk for AD. The expansion of presymptomatic AD is viewed as a better diagnostic construct for those with a specific pattern of biomarkers, indicating that they are proximate to the expression of symptoms in the near future.</p>","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"1304-1311"},"PeriodicalIF":20.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557844","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":"Peripheral-Type Facial Paralysis and Unilateral Hemisphere Hemorrhage.","authors":"Chunyong Chen, Jian Zhang, Jingjing Huang","doi":"10.1001/jamaneurol.2024.3270","DOIUrl":"10.1001/jamaneurol.2024.3270","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"1312-1313"},"PeriodicalIF":20.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142346891","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":"Barriers to Tofersen Therapy for Variant SOD1-Mediated ALS.","authors":"Stanley H Appel, Jason R Thonhoff","doi":"10.1001/jamaneurol.2024.3331","DOIUrl":"10.1001/jamaneurol.2024.3331","url":null,"abstract":"","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":" ","pages":"1239-1240"},"PeriodicalIF":20.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142380871","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}