Annals of Neurology最新文献

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Cerebral Amyloid Angiopathy-Related Inflammation Spectrum Disorders: Introduction of a Novel Concept and Diagnostic Criteria 脑淀粉样血管病相关炎症谱系障碍:引入新概念和诊断标准。
IF 8.1 1区 医学
Annals of Neurology Pub Date : 2024-12-13 DOI: 10.1002/ana.27162
Andreas Charidimou MD, MSc, PhD, FESO
{"title":"Cerebral Amyloid Angiopathy-Related Inflammation Spectrum Disorders: Introduction of a Novel Concept and Diagnostic Criteria","authors":"Andreas Charidimou MD, MSc, PhD, FESO","doi":"10.1002/ana.27162","DOIUrl":"10.1002/ana.27162","url":null,"abstract":"","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 3","pages":"470-474"},"PeriodicalIF":8.1,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142823450","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}
引用次数: 0
Atlas of Cerebrospinal Fluid Immune Cells Across Neurological Diseases 神经系统疾病的脑脊液免疫细胞图谱。
IF 8.1 1区 医学
Annals of Neurology Pub Date : 2024-12-12 DOI: 10.1002/ana.27157
Michael Heming MD, Anna-Lena Börsch MSc, Simone Melnik MSc, Noemi Gmahl MD, Louisa Müller-Miny MD, Christine Dambietz MD, Lukas Fisch MSc, Timm Kühnel MSc, Tobias J. Brix PhD, Alice Janssen MSc, Eva Schumann MSc, Catharina C. Gross PhD, Julian Varghese MD, Tim Hahn PhD, Heinz Wiendl MD, Gerd Meyer zu Hörste MD
{"title":"Atlas of Cerebrospinal Fluid Immune Cells Across Neurological Diseases","authors":"Michael Heming MD,&nbsp;Anna-Lena Börsch MSc,&nbsp;Simone Melnik MSc,&nbsp;Noemi Gmahl MD,&nbsp;Louisa Müller-Miny MD,&nbsp;Christine Dambietz MD,&nbsp;Lukas Fisch MSc,&nbsp;Timm Kühnel MSc,&nbsp;Tobias J. Brix PhD,&nbsp;Alice Janssen MSc,&nbsp;Eva Schumann MSc,&nbsp;Catharina C. Gross PhD,&nbsp;Julian Varghese MD,&nbsp;Tim Hahn PhD,&nbsp;Heinz Wiendl MD,&nbsp;Gerd Meyer zu Hörste MD","doi":"10.1002/ana.27157","DOIUrl":"10.1002/ana.27157","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Cerebrospinal fluid (CSF) provides unique insights into the brain and neurological diseases. However, the potential of CSF flow cytometry applied on a large scale remains unknown.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We used data-driven approaches to analyze paired CSF and blood flow cytometry measurements from 8,790 patients (discovery cohort) and CSF only data from 3,201 patients (validation cohort) collected across neurological diseases in a real-world setting.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In somatoform controls (n = 788), activation of T cells increased with age in both CSF and blood, whereas double negative blood T cells (CD3<sup>+</sup>CD4<sup>−</sup>CD8<sup>−</sup>) decreased with age. A machine learning model of CSF and blood immune cells defined immune age, which correlated strongly with true biological age (<i>r</i> = 0.71). Classifying all diseases solely based on the CSF/blood parameters in 8,790 patients resulted in clusters of 4 disease categories: healthy, autoimmune, meningoencephalitis, and neurodegenerative. This clustering was validated in an analytically independent test dataset (8,790 patients) and in a temporally independent cohort (3,201 patients). Patients with multiple sclerosis were more likely to have progressive disease when assigned to the neurodegeneration cluster and to have lower disability in the autoimmune cluster. Patients with dementia in the neurodegeneration cluster showed more severe disease progression. Flow cytometry helped differentiate dementia from controls, thereby enhancing the diagnostic power of routine CSF diagnostics.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Flow cytometry of CSF and blood thus identifies site-specific aging patterns and disease-overarching patterns of neurodegeneration. ANN NEUROL 2025;97:779–790</p>\u0000 </section>\u0000 </div>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 4","pages":"779-790"},"PeriodicalIF":8.1,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ana.27157","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142811590","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}
引用次数: 0
Letter on Intramedullary Spinal Cord Abscess: Acupuncture Is the Real Infected Villain? 髓内脊髓脓肿:针灸是真正的感染恶棍?
IF 8.1 1区 医学
Annals of Neurology Pub Date : 2024-12-10 DOI: 10.1002/ana.27153
Hai Lu
{"title":"Letter on Intramedullary Spinal Cord Abscess: Acupuncture Is the Real Infected Villain?","authors":"Hai Lu","doi":"10.1002/ana.27153","DOIUrl":"10.1002/ana.27153","url":null,"abstract":"","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 3","pages":"606"},"PeriodicalIF":8.1,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142798834","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}
引用次数: 0
Automated Neuroprognostication Via Machine Learning in Neonates with Hypoxic-Ischemic Encephalopathy 通过机器学习对新生儿缺氧缺血性脑病的自动神经预测。
IF 8.1 1区 医学
Annals of Neurology Pub Date : 2024-12-10 DOI: 10.1002/ana.27154
John D. Lewis PhD, Atiyeh A. Miran MD, Michelle Stoopler MD, Helen M. Branson MD, Ashley Danguecan PhD, Krishna Raghu MD, Linh G. Ly MD, Mehmet N. Cizmeci MD, Brian T. Kalish MD
{"title":"Automated Neuroprognostication Via Machine Learning in Neonates with Hypoxic-Ischemic Encephalopathy","authors":"John D. Lewis PhD,&nbsp;Atiyeh A. Miran MD,&nbsp;Michelle Stoopler MD,&nbsp;Helen M. Branson MD,&nbsp;Ashley Danguecan PhD,&nbsp;Krishna Raghu MD,&nbsp;Linh G. Ly MD,&nbsp;Mehmet N. Cizmeci MD,&nbsp;Brian T. Kalish MD","doi":"10.1002/ana.27154","DOIUrl":"10.1002/ana.27154","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>Neonatal hypoxic-ischemic encephalopathy is a serious neurologic condition associated with death or neurodevelopmental impairments. Magnetic resonance imaging (MRI) is routinely used for neuroprognostication, but there is substantial subjectivity and uncertainty about neurodevelopmental outcome prediction. We sought to develop an objective and automated approach for the analysis of newborn brain MRI to improve the accuracy of prognostication.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We created an anatomic MRI template from a sample of 286 infants treated with therapeutic hypothermia, and labeled the deep gray-matter structures. We extracted quantitative information, including shape-related information, and information represented by complex patterns (radiomic measures), from each of these structures in all infants. We then trained an elastic net model to use either only these measures, only the infants’ demographic and laboratory data, or both, to predict neurodevelopmental outcomes, as measured by the Bayley Scales of Infant and Toddler Development at 18 months of age.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among those infants for whom Bayley scores were available for cognitive, language, and motor outcomes, we found sets of MRI-based measures that could predict their Bayley scores with correlations that were greater than the correlations based on only the demographic and laboratory data, explained more of the variance in the observed scores, and generated a smaller error; predictions based on the combination of the demographic-laboratory and MRI-based measures were similar or marginally better.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Our findings show that machine learning models using MRI-based measures can predict neurodevelopmental outcomes in neonates with hypoxic-ischemic encephalopathy across all neurodevelopmental domains and across the full spectrum of outcomes. ANN NEUROL 2025;97:791–802</p>\u0000 </section>\u0000 </div>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 4","pages":"791-802"},"PeriodicalIF":8.1,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ana.27154","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142798831","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}
引用次数: 0
Critical Care Decisions After Large Core Cerebral Infarctions: A Secondary Analysis From the SELECT2 Trial 大核心脑梗死后的关键护理决策:SELECT2试验的二次分析。
IF 8.1 1区 医学
Annals of Neurology Pub Date : 2024-12-09 DOI: 10.1002/ana.27151
Scott E. Kasner MD, Michael T. Mullen MD, Michael DeGeorgia MD, Spiros Blackburn MD, Donna K. George MD, Monisha Kumar MD, Steven Messe MD, Michael G. Abraham MD, Michael Chen MD, Santiago Ortega-Gutierrez MD, Clark W. Sitton MD, Jan-Karl Burkhardt MD, Muhammad Shazam Hussain MD, Leonid Churilov PhD, Sophia Sundararajan MD, Yin C. Hu MD, Nabeel A. Herial MD, Pascal Jabbour MD, Daniel Gibson MD, Juan F. Arenillas MD, PhD, Jenny P. Tsai MD, Ronald F. Budzik MD, William J. Hicks MD, Osman Kozak MD, Bernard Yan MBBS, Dennis J. Cordato PhD, Nathan W. Manning MBBS, Mark W. Parsons PhD, Ricardo A. Hanel MD, Amin N. Aghaebrahim MD, Teddy Y. Wu PhD, Pere Cardona Portela MD, Natalia Pérez de la Ossa MD, PhD, Joanna D. Schaafsma MD, Jordi Blasco MD, PhD, Navdeep Sangha MD, Steven Warach MD, Chirag D. Gandhi MD, Timothy J. Kleinig PhD, Daniel Sahlein MD, Edgar A. Samaniego MD, Laith Maali MD, Mohammad A. Abdulrazzak MD, Krishna Amuluru MD, Deep K. Pujara MBBS, Faris Shaker MBChB, Hannah Johns PhD, Rami Moussa BS, Faisal Al-Shaibi MD, Kelsey R. Duncan MD, Stavropoula Tjoumakaris MD, Amanda Opaskar MD, Wei Xiong MD, Abhishek Ray MD, Sepideh Amin-Hanjani MD, Thanh N. Nguyen MD, Johanna T. Fifi MD, Stephen Davis MD, Lawrence Wechsler MD, Anthony Furlan MD, Cathy Sila MD, Nicholas Bambakidis MD, Michael D. Hill MD, Vitor Mendes Pereira MD, Maarten G. Lansberg MD, James C. Grotta MD, Marc Ribo MD, Greg W. Albers MD, Bruce C. Campbell PhD, Ameer E. Hassan DO, Amrou Sarraj MD, for the SELECT2 Investigators
{"title":"Critical Care Decisions After Large Core Cerebral Infarctions: A Secondary Analysis From the SELECT2 Trial","authors":"Scott E. Kasner MD,&nbsp;Michael T. Mullen MD,&nbsp;Michael DeGeorgia MD,&nbsp;Spiros Blackburn MD,&nbsp;Donna K. George MD,&nbsp;Monisha Kumar MD,&nbsp;Steven Messe MD,&nbsp;Michael G. Abraham MD,&nbsp;Michael Chen MD,&nbsp;Santiago Ortega-Gutierrez MD,&nbsp;Clark W. Sitton MD,&nbsp;Jan-Karl Burkhardt MD,&nbsp;Muhammad Shazam Hussain MD,&nbsp;Leonid Churilov PhD,&nbsp;Sophia Sundararajan MD,&nbsp;Yin C. Hu MD,&nbsp;Nabeel A. Herial MD,&nbsp;Pascal Jabbour MD,&nbsp;Daniel Gibson MD,&nbsp;Juan F. Arenillas MD, PhD,&nbsp;Jenny P. Tsai MD,&nbsp;Ronald F. Budzik MD,&nbsp;William J. Hicks MD,&nbsp;Osman Kozak MD,&nbsp;Bernard Yan MBBS,&nbsp;Dennis J. Cordato PhD,&nbsp;Nathan W. Manning MBBS,&nbsp;Mark W. Parsons PhD,&nbsp;Ricardo A. Hanel MD,&nbsp;Amin N. Aghaebrahim MD,&nbsp;Teddy Y. Wu PhD,&nbsp;Pere Cardona Portela MD,&nbsp;Natalia Pérez de la Ossa MD, PhD,&nbsp;Joanna D. Schaafsma MD,&nbsp;Jordi Blasco MD, PhD,&nbsp;Navdeep Sangha MD,&nbsp;Steven Warach MD,&nbsp;Chirag D. Gandhi MD,&nbsp;Timothy J. Kleinig PhD,&nbsp;Daniel Sahlein MD,&nbsp;Edgar A. Samaniego MD,&nbsp;Laith Maali MD,&nbsp;Mohammad A. Abdulrazzak MD,&nbsp;Krishna Amuluru MD,&nbsp;Deep K. Pujara MBBS,&nbsp;Faris Shaker MBChB,&nbsp;Hannah Johns PhD,&nbsp;Rami Moussa BS,&nbsp;Faisal Al-Shaibi MD,&nbsp;Kelsey R. Duncan MD,&nbsp;Stavropoula Tjoumakaris MD,&nbsp;Amanda Opaskar MD,&nbsp;Wei Xiong MD,&nbsp;Abhishek Ray MD,&nbsp;Sepideh Amin-Hanjani MD,&nbsp;Thanh N. Nguyen MD,&nbsp;Johanna T. Fifi MD,&nbsp;Stephen Davis MD,&nbsp;Lawrence Wechsler MD,&nbsp;Anthony Furlan MD,&nbsp;Cathy Sila MD,&nbsp;Nicholas Bambakidis MD,&nbsp;Michael D. Hill MD,&nbsp;Vitor Mendes Pereira MD,&nbsp;Maarten G. Lansberg MD,&nbsp;James C. Grotta MD,&nbsp;Marc Ribo MD,&nbsp;Greg W. Albers MD,&nbsp;Bruce C. Campbell PhD,&nbsp;Ameer E. Hassan DO,&nbsp;Amrou Sarraj MD,&nbsp;for the SELECT2 Investigators","doi":"10.1002/ana.27151","DOIUrl":"10.1002/ana.27151","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Among patients with large vessel occlusion (LVO) and large ischemic cores, critical decisions often need to be made about decompressive hemicraniectomy (DHC) or early withdrawal of life-sustaining therapy (WLST). In this study, we aimed to evaluate utilization of DHC and early WLST and factors associated with them in patients with large strokes from the SELECT2 trial.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We analyzed the entire SELECT2 trial population, which randomized 352 patients with stroke due to LVO and large ischemic cores to endovascular thrombectomy (EVT) or medical management. We used the as-treated principle to compare the use of DHC and early WLST within 7 days after randomization. We further assessed functional outcomes (modified Rankin Score) after these decisions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 352 patients enrolled in this study, 55 received DHC and 81 transitioned to early WLST. Patients treated with EVT were as likely to undergo DHC (16% vs 15%, adjusted relative risk [aRR] = 1.19, 95% CI:0.75–1.88, <i>p</i> = 0.46) or WLST (22% vs 24%, aRR = 0.94, 95% CI: 0.66–1.34, <i>p</i> = 0.72) as those given medical management. DHC was used more frequently in younger patients and WLST more in older patients. EVT efficacy was maintained after adjusting for DHC (adjusted generalized odds ratio [aGenOR] = 1.68, 95% CI: 1.24–2.11, <i>p</i> &lt; 0.001), with no interaction between DHC and treatment (p-interaction = 0.93). At 1 year, 21% of DHC-treated patients were ambulatory; the outcomes were universally poor after early WLST.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>In the SELECT2 trial of patients with large ischemic core, DHC was performed in ~1 of 6 patients and early WLST in ~1 of 5 patients, without differences based on treatment with EVT or medical management, nor successful reperfusion. DHC or WLST did not detract from thrombectomy treatment benefit. Additionally, ~20% of patients achieved independent ambulation despite receiving DHC by the 1-year follow-up. The similar distribution of these critical care decisions provides reassurance that the overall trial outcomes were not biased by open-label treatment allocation. ANN NEUROL 2025;97:698–708</p>\u0000 </section>\u0000 </div>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 4","pages":"698-708"},"PeriodicalIF":8.1,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142794065","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}
引用次数: 0
Spontaneous Pneumocephalus Due to Skull Base Defect and Spinal Cerebrospinal Fluid-Venous Fistula 颅底缺损及脊髓-脑脊液-静脉瘘所致自发性脑积水。
IF 8.1 1区 医学
Annals of Neurology Pub Date : 2024-12-09 DOI: 10.1002/ana.27152
Simon A. Menaker MD, Gregory P. Lekovic MD, PhD, Wouter I. Schievink MD
{"title":"Spontaneous Pneumocephalus Due to Skull Base Defect and Spinal Cerebrospinal Fluid-Venous Fistula","authors":"Simon A. Menaker MD,&nbsp;Gregory P. Lekovic MD, PhD,&nbsp;Wouter I. Schievink MD","doi":"10.1002/ana.27152","DOIUrl":"10.1002/ana.27152","url":null,"abstract":"","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 4","pages":"803-804"},"PeriodicalIF":8.1,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142794066","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}
引用次数: 0
Inhibition of Bone Morphogenetic Protein Signaling Prevents Tau Pathology in iPSC Derived Neurons and PS19 Mice 骨形态发生蛋白信号的抑制阻止iPSC衍生神经元和PS19小鼠的Tau病理。
IF 8.1 1区 医学
Annals of Neurology Pub Date : 2024-12-07 DOI: 10.1002/ana.27149
Amira Affaneh PhD, Anne K. Linden BS, Elif Tunc-Ozcan PhD, Yung-Hsu Tsai MSc, Chian-Yu Peng PhD, John A. Kessler MD
{"title":"Inhibition of Bone Morphogenetic Protein Signaling Prevents Tau Pathology in iPSC Derived Neurons and PS19 Mice","authors":"Amira Affaneh PhD,&nbsp;Anne K. Linden BS,&nbsp;Elif Tunc-Ozcan PhD,&nbsp;Yung-Hsu Tsai MSc,&nbsp;Chian-Yu Peng PhD,&nbsp;John A. Kessler MD","doi":"10.1002/ana.27149","DOIUrl":"10.1002/ana.27149","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Many neurodegenerative disorders share a common pathologic feature involving the deposition of abnormal tau protein in the brain (tauopathies). This suggests that there may be some shared pathophysiologic mechanism(s). The largest risk factor for the majority of these disorders is aging, suggesting involvement of the aging process in the shared pathophysiology. We test the hypothesis that an increase in bone morphogenetic protein (BMP) signaling that occurs during aging contributes to the onset and progression of tauopathies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Human induced pluripotent stem cell (iPSC)-derived neurons from patients with Alzheimer's disease (AD) were used to investigate the effects of BMP signaling on tau phosphorylation and release and the mechanisms underlying these effects. Wildtype mice were used to examine effects of BMP signaling <i>in vivo</i>. P301S (PS19) mice were examined for the effects of BMP signaling in a model of tauopathy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Here, we show that BMP signaling, mediated by non-canonical p38 signaling, increases tau phosphorylation and release of p-tau in human iPSC-derived AD neurons. Further, there is an interaction between BMP signaling and apolipoprotein E4 (ApoE4) that significantly increases tau phosphorylation and release compared with ApoE3 neurons. Inhibiting BMP signaling reduces the changes in tau in the cultured human neurons, and it limits tau pathology and prevents cognitive decline in PS19 mice.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Our study suggests that the age-related increase in BMP signaling may participate in the onset and progression of tau pathology. Thus, therapeutic interventions that reduce BMP signaling in the aging brain could potentially slow or prevent development of diseases involving tau hyperphosphorylation. ANN NEUROL 2025;97:657–672</p>\u0000 </section>\u0000 </div>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 4","pages":"657-672"},"PeriodicalIF":8.1,"publicationDate":"2024-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ana.27149","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142790546","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}
引用次数: 0
NORSE, FIRES, and a Polygenic Trickle of Autoimmunity 北欧,火,和自身免疫的多基因涓滴。
IF 8.1 1区 医学
Annals of Neurology Pub Date : 2024-12-07 DOI: 10.1002/ana.27148
Ingo Helbig MD, Shiva Ganesan MS
{"title":"NORSE, FIRES, and a Polygenic Trickle of Autoimmunity","authors":"Ingo Helbig MD,&nbsp;Shiva Ganesan MS","doi":"10.1002/ana.27148","DOIUrl":"10.1002/ana.27148","url":null,"abstract":"&lt;p&gt;There are acute presentations of epilepsy that are so dramatic that clinicians remember the specific scenarios’ years, if not decades later-seizures that suddenly start without a reason and simply do not stop despite state-of-the-art treatment, a condition referred to as new-onset refractory status epilepticus (RSE). Despite their acuity, the intensity of care, and a mortality of up to 30%,&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; presentations like this are rare, which has made meaningful research into the underlying causes and treatments difficult. However, over the last 2 decades, a community of clinicians, researchers, and advocates have come together to advance our understanding of these enigmatic conditions. First and foremost, by giving them a name and working definition.&lt;/p&gt;&lt;p&gt;New-onset refractory status epilepticus (NORSE) is typically diagnosed if an identifiable structural, toxic, or metabolic cause cannot be recognized.&lt;span&gt;&lt;sup&gt;2&lt;/sup&gt;&lt;/span&gt; Febrile infection-related epilepsy syndrome (FIRES) is a subset of NORSE defined by refractory status epilepticus (RSE) that is preceded by a febrile illness.&lt;span&gt;&lt;sup&gt;3&lt;/sup&gt;&lt;/span&gt; Despite differences in definitions, the diagnostic label NORSE is typically used in adults, whereas FIRES is typically used in a pediatric setting. Very rare presentations of NORSE are caused by genetic disorders, such as &lt;i&gt;POLG&lt;/i&gt;, &lt;i&gt;PCDH19&lt;/i&gt;, &lt;i&gt;RANBP2&lt;/i&gt;, or &lt;i&gt;CACNA1A&lt;/i&gt;,&lt;span&gt;&lt;sup&gt;4&lt;/sup&gt;&lt;/span&gt; or by autoimmune or infectious encephalitis. However, the majority remains unexplained, and the term cryptogenic NORSE (cNORSE) is used to clarify the lack of identifiable causes. The situation in FIRES is not much different. Despite an average 15% yield of genetic causes in severe epilepsies without identifiable etiologies, the diagnostic rate in FIRES is zero.&lt;span&gt;&lt;sup&gt;5&lt;/sup&gt;&lt;/span&gt; In summary, despite a tangible proximity to both genetic epilepsies and inflammatory and autoimmune condition, cNORSE and FIRES remain unexplained.&lt;/p&gt;&lt;p&gt;In their recent publication,&lt;span&gt;&lt;sup&gt;6&lt;/sup&gt;&lt;/span&gt; Jang and collaborators took a different approach to assess a potential genetic contribution to cNORSE. In a carefully phenotyped sample of 30 individuals, the authors performed whole-genome sequencing and analyzed polygenic risk scores (PRSs) for various conditions. In contrast to diagnostic exome or genome sequencing that aims at the identification of causative, rare variants, PRSs accumulate the effect of common genetic variations, so-called single nucleotide polymorphisms (SNPs). The contribution of common genetic variants is typically assessed through genome-wide association studies, large cohort studies with thousands of individuals aiming at identifying SNPs that are more common in cases than in controls. After these studies have been performed, associated SNPs and their relative contribution can be combined into a PRS. These PRSs can then be used to assess genomic overlap between conditions even in smaller samples.&lt;/p&gt;&lt;p&gt;PRSs are ","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 2","pages":"386-387"},"PeriodicalIF":8.1,"publicationDate":"2024-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11740266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142790562","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}
引用次数: 0
Prophylactic Fetal Creatine Supplementation Improves Post-Asphyxial EEG Recovery and Reduces Seizures in Fetal Sheep: Implications for Hypoxic–Ischemic Encephalopathy 预防性补充胎儿肌酸可改善胎儿羊窒息后脑电图恢复并减少癫痫发作:对缺氧缺血性脑病的影响。
IF 8.1 1区 医学
Annals of Neurology Pub Date : 2024-12-07 DOI: 10.1002/ana.27150
Nhi T. Tran PhD, Stacey J. Ellery PhD, Sharmony B. Kelly PhD, Juliane Sévigny BSc, Madeleine Chatton BBSc, Hui Lu BVSc, Graeme R. Polglase PhD, Rod J. Snow PhD, David W. Walker PhD, DSc, Robert Galinsky PhD
{"title":"Prophylactic Fetal Creatine Supplementation Improves Post-Asphyxial EEG Recovery and Reduces Seizures in Fetal Sheep: Implications for Hypoxic–Ischemic Encephalopathy","authors":"Nhi T. Tran PhD,&nbsp;Stacey J. Ellery PhD,&nbsp;Sharmony B. Kelly PhD,&nbsp;Juliane Sévigny BSc,&nbsp;Madeleine Chatton BBSc,&nbsp;Hui Lu BVSc,&nbsp;Graeme R. Polglase PhD,&nbsp;Rod J. Snow PhD,&nbsp;David W. Walker PhD, DSc,&nbsp;Robert Galinsky PhD","doi":"10.1002/ana.27150","DOIUrl":"10.1002/ana.27150","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Hypoxic–ischemic encephalopathy (HIE) is a major cause of perinatal brain injury. Creatine is a dietary supplement that can increase intracellular phosphocreatine to improve the provision of intracellular adenosine triphosphate (ATP) to meet the increase in metabolic demand of oxygen deprivation. Here, we assessed prophylactic fetal creatine supplementation in reducing acute asphyxia-induced seizures, disordered electroencephalography (EEG) activity and cerebral inflammation and cell death histopathology.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Fetal sheep (118 ± 1 days’ gestational age [dGA]; 0.8 gestation) were implanted with electrodes to continuously record EEG and nuchal electromyogram activity. At 121 dGA, fetuses were randomly assigned to sham control (i.v. saline infusion without umbilical cord occlusion [UCO]; SalCon), continuous i.v. creatine infusion (6 mg/kg/h; CrUCO) or isovolumetric saline (SalUCO) followed by UCO at 128 ± 2 dGA that lasted until the mean arterial blood pressure reached 19 mmHg. Brain tissue was collected for histopathology after 72 hours of recovery.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Creatine supplementation had no effects on basal systemic or neurological physiology. UCO duration did not differ between CrUCO and SalUCO. After reperfusion, CrUCO fetuses had improved EEG power and frequency recovery and reduced electrographic seizure incidence (SalUCO, 86% vs CrUCO, 29%) and burden. At 72 hours after UCO, cell death in the cerebral cortex and astrogliosis in the periventricular white matter were reduced in CrUCO fetuses compared with SalUCO.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Creatine supplementation reduced post-asphyxial seizures and improved EEG recovery. Improvements in functional recovery with creatine were associated with regional reductions in cell death and astrogliosis. Prophylactic creatine treatment has the potential to mitigate functional indices of HIE in the late gestation fetal brain. ANN NEUROL 2025;97:673–687</p>\u0000 </section>\u0000 </div>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 4","pages":"673-687"},"PeriodicalIF":8.1,"publicationDate":"2024-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ana.27150","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142790565","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}
引用次数: 0
Longitudinal Imaging Biomarkers Correlate with Progressive Motor Deficit in the Mouse Model of Charlevoix-Saguenay Ataxia 纵向成像生物标志物与Charlevoix-Saguenay共济失调小鼠模型进行性运动缺陷相关。
IF 8.1 1区 医学
Annals of Neurology Pub Date : 2024-12-06 DOI: 10.1002/ana.27146
Valentina Gigliucci, Su-Chun Huang, Giorgio Boschetti, Alessandra Scaravilli, Valerio Castoldi, Paola Podini, Angelo Quattrini, Sirio Cocozza, Letizia Leocani, Francesca Maltecca
{"title":"Longitudinal Imaging Biomarkers Correlate with Progressive Motor Deficit in the Mouse Model of Charlevoix-Saguenay Ataxia","authors":"Valentina Gigliucci,&nbsp;Su-Chun Huang,&nbsp;Giorgio Boschetti,&nbsp;Alessandra Scaravilli,&nbsp;Valerio Castoldi,&nbsp;Paola Podini,&nbsp;Angelo Quattrini,&nbsp;Sirio Cocozza,&nbsp;Letizia Leocani,&nbsp;Francesca Maltecca","doi":"10.1002/ana.27146","DOIUrl":"10.1002/ana.27146","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>In autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) disease, severity and age of onset vary greatly, hindering to objectively measure and predict clinical progression. Thickening of the retinal nerve fiber layer is distinctive of ARSACS patients, as assessed by optical coherence tomography, whereas conventional brain magnetic resonance imaging findings include both supratentorial and infratentorial changes. Because longitudinal imaging studies in ARSACS patients are not available to define these changes as biomarkers of disease progression, we aimed to address this issue in the ARSACS mouse model.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We performed longitudinal retinal OCT and brain MRI in the <i>Sacs</i><sup>−/−</sup> ARSACS mouse model, alongside motor and coordination assessment in the beam walking test. We also investigated visual function and the molecular mechanisms underlying RNFL increased thickness by histology and immunofluorescence.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We demonstrated that RNFL thickening by OCT gradually increases in the early stages of pathology in the <i>Sacs</i><sup>−/−</sup> mouse model, reflecting the progression of motor impairment, and later reaches a plateau when thinning of the posterior corpus callosum becomes detectable by MRI. Mechanistically, we unveiled that RNFL thickening is associated with aberrant accumulation of non-phosphorylated neurofilament H and glial fibrillary acidic protein. We also uncovered mild signs of myelin pathology coherent with increased latency of visual evoked potentials, and altered retinal activation by photopic electroretinography.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>We show that both RNFL thickening and MRI changes may represent biomarkers of disease progression in the <i>Sacs</i><sup>−/−</sup> mouse model. Our data gathers knowledge instrumental to clinical studies, holding potential as readout for treatment efficacy. ANN NEUROL 2025;97:425–434</p>\u0000 </section>\u0000 </div>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 3","pages":"425-434"},"PeriodicalIF":8.1,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ana.27146","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142783467","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}
引用次数: 0
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