Annals of Neurology最新文献

{"title":"Track Sign Distal to Internal Carotid Artery Occlusion.","authors":"Ying Yu, Jiabao Yang, Ning Ma","doi":"10.1002/ana.27234","DOIUrl":"https://doi.org/10.1002/ana.27234","url":null,"abstract":"","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143595938","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":"Network Localization of Pediatric Lesion-Induced Dystonia.","authors":"Rose Gelineau-Morel, Nomazulu Dlamini, Joel Bruss, Alexander L Cohen, Amanda Robertson, Dimitrios Alexopoulos, Christopher D Smyser, Aaron D Boes","doi":"10.1002/ana.27224","DOIUrl":"10.1002/ana.27224","url":null,"abstract":"<p><strong>Objective: </strong>Dystonia is a movement disorder defined by involuntary muscle contractions leading to abnormal postures or twisting and repetitive movements. Classically dystonia has been thought of as a disorder of the basal ganglia, but newer results in idiopathic dystonia and lesion-induced dystonia in adults point to broader motor network dysfunction spanning the basal ganglia, cerebellum, premotor cortex, sensorimotor, and frontoparietal regions. It is unclear whether a similar network is shared between different etiologies of pediatric lesion-induced dystonia.</p><p><strong>Methods: </strong>Three cohorts of pediatric patients with lesion-induced dystonia were identified. The lesion etiologies included hypoxia, kernicterus, and stroke versus comparison subjects with acquired lesions not associated with dystonia. Multivariate lesion-symptom mapping and lesion network mapping were used to evaluate the anatomy and networks associated with dystonia.</p><p><strong>Results: </strong>Multivariate lesion-symptom mapping showed that lesions of the putamen and globus pallidus were associated with dystonia (r = 0.41, p < 0.001). Lesion network mapping using normative connectome data from healthy children demonstrated that these regional findings occurred within a common brain-wide network that involves the basal ganglia, anterior and medial cerebellum, and cortical regions that overlap the cingulo-opercular action-mode and somato-cognitive-action networks.</p><p><strong>Interpretation: </strong>We interpret these findings as novel evidence for a unified dystonia brain network that involves the somato-cognitive-action network, which is implicated in the coordination of movement. Elucidation of this network gives insight into the functional origins of dystonia and provides novel targets to investigate for therapeutic intervention. ANN NEUROL 2025.</p>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143584003","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":"Annals of Neurology: Volume 97, Number 4, April 2025","authors":"","doi":"10.1002/ana.26979","DOIUrl":"https://doi.org/10.1002/ana.26979","url":null,"abstract":"","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 4","pages":"C1"},"PeriodicalIF":8.1,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ana.26979","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143571219","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":"Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado-Joseph Disease.","authors":"Ana F Ferreira, Mafalda Raposo, Emily D Shaw, Louisa Liu, João Vasconcelos, Teresa Kay, Conceição Bettencourt, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Maria do Carmo Costa, Manuela Lima","doi":"10.1002/ana.27222","DOIUrl":"https://doi.org/10.1002/ana.27222","url":null,"abstract":"<p><strong>Objective: </strong>An abundance of select transcripts and proteins has been found to be dysregulated in blood samples of Machado-Joseph disease (MJD) carriers. Here, we aimed to: (1) identify blood transcriptional changes as potential biomarkers of MJD; (2) correlate levels of differentially expressed blood transcripts with MJD carriers features; and (3) evaluate whether the identified differential abundance of blood transcripts in MJD patients is preserved in MJD brains.</p><p><strong>Methods: </strong>We used unbiased RNA microarray and quantitative polymerase chain reaction to assess transcript levels in blood and brain samples, and western blot analysis to evaluate the abundance of specific proteins in brain samples.</p><p><strong>Results: </strong>We observed consistent dysregulation of DDIT4, TRIM13, and P2RY13 transcriptional levels in the blood of MJD patients from preclinical to symptomatic stages in Azorean and Brazilian cohorts. Combined blood DDIT4 and TRIM13 transcriptional levels show a very high accuracy to discriminate MJD carriers from matched controls (AUC ≥0.90). Levels of P2RY13 transcripts correlate with age at onset, and an abundance of DDIT4 and TRIM13 transcripts correlate with the expanded CAG repeat size in combined Azorean and Brazilian patients; and levels of TRIM13 transcripts correlate with age at onset of early-stage Azorean patients. Moreover, the abundance of TRIM13 protein is increased in the cerebral cortex of MJD patients.</p><p><strong>Interpretation: </strong>Overall, blood DDIT4 and TRIM13 transcript levels are potential biomarkers of MJD. Cellular processes involving DDIT4, TRIM13, and P2RY13 appear to be commonly dysregulated in the blood and brain of MJD patients, indicating the involvement of these genes in MJD pathogenesis. ANN NEUROL 2025.</p>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143555371","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":"Purine Metabolism and Dystonia: Perspectives of a Long-Promised Relationship.","authors":"Ugo Sorrentino, Audrey G O'Neill, Justin M Kollman, Hyder A Jinnah, Michael Zech","doi":"10.1002/ana.27227","DOIUrl":"https://doi.org/10.1002/ana.27227","url":null,"abstract":"<p><p>Dystonia research focuses on the identification of converging biological pathways, allowing to define molecular drivers that serve as treatment targets. We summarize evidence supporting the concept that aberrations in purine metabolism intersect with dystonia pathogenesis. The recent discovery of IMPDH2-related dystonia introduced a gain-of-function paradigm in purinergic system defects, offering new perspectives to understand purine-pool imbalances in brain diseases. We discuss commonalities between known dystonia-linked mechanisms and mechanisms emerging from studies of purine metabolism disorders including Lesch-Nyhan disease. Together, we hypothesize that a greater appreciation of the relevance of purine perturbances in dystonia can offer fresh avenues for therapeutic intervention. ANN NEUROL 2025.</p>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143539683","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":"The Starry Cortex of Aβ-Related Angiitis.","authors":"Shiyuan Fang, Nan Jiang, Lixin Zhou, Jun Ni","doi":"10.1002/ana.27228","DOIUrl":"https://doi.org/10.1002/ana.27228","url":null,"abstract":"","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143539695","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 Glucosylceramide Levels Are Regulated by ATP10D and Are Not Involved in Parkinson's Disease Pathogenesis.","authors":"Emma N Somerville, Alva James, Christian Beetz, Robert Schwieger, Gal Barrel, Krishna K Kandaswamy, Marius I Iurascu, Peter Bauer, Michael Ta, Hirotaka Iwaki, Konstantin Senkevich, Eric Yu, Roy N Alcalay, Ziv Gan-Or","doi":"10.1002/ana.27219","DOIUrl":"10.1002/ana.27219","url":null,"abstract":"<p><p>GBA1 variants and decreased glucocerebrosidase activity are implicated in Parkinson's disease (PD). We investigated the hypothesis that increased levels of glucosylceramide (GlcCer), a main substrate of glucocerebrosidase, are involved in PD pathogenesis. Using multiple genetic methods, we show that ATPase phospholipid transporting 10D (ATP10D), not GBA1, is the main regulator of plasma GlcCer levels, yet it is not involved in PD pathogenesis. Plasma GlcCer levels were associated with PD, but not in a causative manner, and are not predictive of disease status. These results argue against targeting GlcCer in GBA1-PD, and underscore the need to explore alternative mechanisms and biomarkers for PD. ANN NEUROL 2025.</p>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143530828","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":"Longitudinal Proteomic Profiling of Cognition across an Aerobic Exercise Intervention.","authors":"Alison M H Donald, Luiz G N de Almeida, Mohamed Ziad Dabaja, Isabella Orchard, Kaia Ybema, Veronica Tsegai, Victoria Armstrong, Sophie Smith, Daniel Young, Richard Stewart Longman, Amanda V Tyndall, Jean M Rawling, Michael D Hill, Willis H Tsai, Ejaife Agbani, Marc J Poulin, Antoine Dufour","doi":"10.1002/ana.27210","DOIUrl":"https://doi.org/10.1002/ana.27210","url":null,"abstract":"<p><p>The physiological basis of cognitive decline remains largely uncharacterized. We identified a protein panel signature, in living humans, that correlates to improvement in neurocognition over a period of 5 years. Our signature is composed of complement proteins, coagulation cascade, and extracellular matrix regulators. In our cohort, SERPINF1 is associated with greater maximal oxygen uptake after an aerobic exercise intervention. Sleep quality is also a key factor in relation to inter-alpha-trypsin inhibitor heavy chain H2, which was associated with greater sleep efficiency. Additionally, we validate that the coagulation profile of decliners' plasma contains procoagulant agonists, leading to greater platelet activation. ANN NEUROL 2025.</p>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143514152","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":"Clinical, Prognostic, and Longitudinal Functional and Neuropsychological Features of West Nile Virus Neuroinvasive Disease in the United States: A Systematic Review and Meta-Analysis.","authors":"Jackson A Roberts, Carla Y Kim, Soonmyung A Hwang, Amir Hassan, Ethan Covington, Kimia Heydari, Mac Lyerly, James J Sejvar, Rodrigo Hasbun, Manya Prasad, Kiran T Thakur","doi":"10.1002/ana.27220","DOIUrl":"https://doi.org/10.1002/ana.27220","url":null,"abstract":"<p><strong>Objective: </strong>West Nile virus (WNV) is the most common cause of arboviral disease in the United States. Approximately 1% of infections involve the nervous system, most commonly resulting in West Nile encephalitis (WNE), West Nile meningitis (WNM), or acute flaccid paralysis (AFP).</p><p><strong>Methods: </strong>In this systematic review, we characterized comprehensively the diagnostic and clinical features of WNV neuroinvasive disease (WNND) in the United States, as well as the evidence regarding prognostic factors and long-term outcomes of WNND.</p><p><strong>Results: </strong>We identified 47 relevant studies reporting data on acute or longitudinal features of WNND. Across studies, the most common presenting symptoms were fever (88%), nausea/vomiting (58%), and fatigue (50%) coupled neurologically with headache (50%), altered mental status (39%), and focal weakness (32%). Pooled mortality was 9.2%, and 42.1% of reported cases required intensive care unit (ICU) admission. In meta-analyses, chronic kidney disease (odds ratio [OR] = 5.99, 95% confidence interval [CI] = 2.71-13.23), diabetes mellitus (OR = 2.43, 95% CI = 1.54-3.84), and hypertension (OR = 4.01, 95% CI = 2.39-6.72) were associated with an increased risk of mortality. Multidomain neurocognitive impairment was reported in several studies at post-hospitalization follow-up, although with marked heterogeneity between study methodology. Subjective neurocognitive impairment, most notably fatigue (37-75%), memory concerns (11-57%), concentration deficits (17-48%), and depression (17-38%), were also common at post-hospitalization follow-up.</p><p><strong>Interpretation: </strong>These findings underscore the significant mortality and morbidity of WNND in the acute and long-term setting. Our findings may additionally provide utility for risk stratification of hospitalized patients with WNND and suggest the need for further evaluation of novel therapeutics to prevent substantial disease-associated acute and long-term disability. ANN NEUROL 2025.</p>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143497763","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":"Efficacy and Safety of Ofatumumab Treatment for Anti-NMDA Receptor Autoimmune Encephalitis (OFF-AE): A Prospective, Multicenter Cohort Study.","authors":"Kundian Guo, Fuhua Peng, Jia Liu, Youming Long, Shougang Guo, Honghao Wang, Gang Yu, Yanlin Zhang, Xiong Han, Ewen Tu, Yake Zheng, Jialu Huang, Yanxia Zhou, Dongmei An, Guanyan Lin, Baojie Wang, Yuanyuan Wang, Ping Yang, Yu Jiang, Beijia Cui, Zhenyu Yang, Maiqi Du, Meiling Jiang, Limin Qin, Xueying Kong, Xue Gong, Xu Liu, Linjun Cai, Jinmei Li, Dong Zhou, Zhen Hong","doi":"10.1002/ana.27218","DOIUrl":"https://doi.org/10.1002/ana.27218","url":null,"abstract":"<p><strong>Objective: </strong>Ofatumumab presents a potentially promising alternative to current second-line immunotherapy for refractory anti-N-methyl-D-aspartate receptor autoimmune encephalitis (NMDAR-AE). We aimed to evaluate the efficacy and safety of ofatumumab as a novel second-line immunotherapy for NMDAR-AE.</p><p><strong>Methods: </strong>This prospective, multicenter, nested cohort study compared patients with NMDAR-AE from the CHina Autoimmune encephalitiS outcomE study registry (CHASE) recruited between October 2011 and February 2024, treated with and without ofatumumab. The primary outcome was the proportion reaching a favorable functional outcome (modified Rankin Scale [mRS] score ≤2) at the last follow-up. Secondary outcomes included mRS scores and Clinical Assessment Scale in Autoimmune Encephalitis (CASE) scores over the first 24-month follow-up and the proportion with further mRS score improvement after ofatumumab initiation. A propensity score matching was performed to balance major confounders.</p><p><strong>Results: </strong>A total of 715 patients with AE were screened. Fifty-eight propensity score-matched patients with NMDAR-AE each in the ofatumumab group and non-ofatumumab group were analyzed. Fifty-four patients (93.1%) in the ofatumumab group achieved further mRS score improvement with a median time of 14 days from ofatumumab initiation, and 53 (91.4%) reached a favorable functional outcome at the last follow-up. For those who failed first-line immunotherapy, the ofatumumab group demonstrated a faster mRS score and CASE score improvement and more frequently reached a favorable functional outcome at the last follow-up compared with the non-ofatumumab group (87.9% vs. 64.7%, odds ratio [OR] 3.95; 95% confidence interval [CI] 1.12-13.94; p = 0.026). No serious adverse events associated with ofatumumab treatment were reported.</p><p><strong>Interpretation: </strong>Ofatumumab showed substantial efficacy and safety, particularly in patients who failed first-line immunotherapy, warranting its consideration in NMDAR-AE management. ANN NEUROL 2025.</p>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143481799","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}