Neurology最新文献

{"title":"Teaching NeuroImage: Lateral Geniculate Body Necrosis Presenting as Bilateral Acute Painless Vision Loss in a Case of Acute Pancreatitis.","authors":"Rahul Karthik Lingutla, Kishore Kalya Vyasaraj, Vikhyath Shetty Y","doi":"10.1212/WNL.0000000000213778","DOIUrl":"10.1212/WNL.0000000000213778","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 2","pages":"e213778"},"PeriodicalIF":7.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12205740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144512239","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":"Statin Initiation and Dementia Incidence in a Large Health Care System From 1997 to 2020: A Target Trial Emulation Study.","authors":"Scott C Zimmerman, Minhyuk Choi, Chen Jiang, Erin L Ferguson, Thomas J Hoffmann, Kaitlin Swinnerton, Akinyemi Oni-Orisan, Paola Gilsanz, Travis J Meyers, Vidhu Choudhary, Rachel A Whitmer, Neil Risch, Ronald M Krauss, Catherine A Schaefer, M Maria Glymour","doi":"10.1212/WNL.0000000000213855","DOIUrl":"10.1212/WNL.0000000000213855","url":null,"abstract":"<p><strong>Background and objectives: </strong>Previous research of associations between statins and Alzheimer disease and Alzheimer disease-related dementias (AD/ADRDs) has been limited by short follow-up, small samples, and confounding. We aimed to estimate the association between the 1st statin prescription and incident AD/ADRD among members of a large population-based cohort of older adults.</p><p><strong>Methods: </strong>We used a cohort study design emulating a target trial using data from Kaiser Permanente Northern California (KPNC), an integrated health care delivery system. Participants were born before 1951 and KPNC members for 4+ years during 1997-2010. Embedded subsamples included sociodemographic and genetic data. Statin initiators were matched at first prescription (\"baseline\") with up to 5 \"noninitiators\" based on age and low-density lipoprotein cholesterol (LDL-C). Participants with extreme propensity scores were excluded. The outcome was time to incident AD/ADRD diagnosis, censoring, or the administrative end of study (December 31, 2020). Cox proportional hazard models were used to estimate hazard ratios for statin initiation on AD/ADRD incidence. Follow-up time was divided at the first year of follow-up to account for increased AD/ADRD detection in the first year due to increased interaction with the health care system after a statin prescription.</p><p><strong>Results: </strong>Among eligible participants (n = 705,061), 264,294 individuals (37.5% of eligible participants) initiated any statin during 2001-2010 (\"initiators\"), of whom 249,613 (94.4%) were matched with 255,937 unique noninitiators to create the analytic sample (322,358 unique participants; mean age at baseline = 67.4 years; 55.1% female). The average follow-up was 11.8 years. In the first year after initiating statins, AD/ADRD diagnoses were elevated by 46% (hazard ratio [HR] = 1.46, 95% CI 1.42-1.53) compared with noninitiators. After 1 year, statin initiators experienced no difference in AD/ADRD incidence (full sample: HR = 1.00, 95% CI 0.99-1.01; subsample with survey covariates: HR = 1.01, 95% CI 0.98-1.06; subsample with survey and genetic covariates: HR = 0.97, 95% CI 0.91-1.07). Adjustment for sociodemographic covariates and <i>apolipoprotein E e4</i> allele count did not materially change the findings.</p><p><strong>Discussion: </strong>In this large emulated target trial, statin initiation was inconsistent with more than a 3% increase or decrease in the hazard of AD/ADRD after the first year of follow-up. This intent-to-treat analysis does not directly quantify effects of long-term exposure to statins. Associations in the first year likely reflect increased medical observation immediately after statin initiation.</p><p><strong>Classification of evidence: </strong>This emulated trial provides Class II evidence that statin initiation is not associated with AD/ADRD or AD incidence after the first year of follow-up.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 2","pages":"e213855"},"PeriodicalIF":7.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12205742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144512222","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":"Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts.","authors":"Amy Pasternak, Michael P McDermott, Jacqueline Montes, Allan M Glanzman, Giorgia Coratti, Sally Dunaway Young, Trinh Tina Duong, William B Martens, John W Day, Zarazuela Zolkipli-Cunningham, Valeria Ada Sansone, Adele D'Amico, Sonia Messina, Claudio Bruno, Eugenio Mercuri, Darryl C De Vivo, Basil T Darras","doi":"10.1212/WNL.0000000000213839","DOIUrl":"10.1212/WNL.0000000000213839","url":null,"abstract":"<p><strong>Background and objectives: </strong>The Spinal Muscular Atrophy Functional Composite (SMA-FC) combines scores from the Hammersmith Functional Motor Scale Expanded (HFMSE), Upper Limb Module (ULM), and Six-Minute Walk Test (6MWT) into a single score and removes the floor and ceiling effects of the HFMSE. Our objective was to evaluate a revised version of the SMA-FC (SMA-FCR) by including the Revised ULM (RULM) in untreated and nusinersen-treated SMA.</p><p><strong>Methods: </strong>We included participants with HFMSE, RULM, and 6MWT data at the same visit. The SMA-FCR represented the average of the 3 test scores, each expressed as the percentage of the maximum possible score (HFMSE and RULM) or the percent of predicted normative performance (6MWT). Mean annual rates of change were calculated in participants who had SMA-FCR data at 2 or more visits while untreated and/or while treated.</p><p><strong>Results: </strong>There were 580 participants (49.6% female) with a mean (SD) age of 19.2 (15.5) years (range 1.3-70.6 years). The median (interquartile range) SMA-FCR scores were 3.6 (0.0-8.1) for nonsitters, 22.3 (16.3-31.2) for sitters, and 75.1 (63.7-86.6) for walkers. The SMA-FCR score reduced the ceiling effect seen with the RULM in walkers and the floor effect seen with the HFMSE in nonsitters. The mean annual rate of change in the SMA-FCR was -0.62 (95% CI -1.15 to -0.08, <i>p</i> = 0.02) in untreated participants and 0.15 (95% CI -0.12 to 0.42, <i>p</i> = 0.28) in treated participants (difference = 0.77, 95% CI 0.19-1.34, <i>p</i> = 0.009). The mean annual rate of change in the HFMSE was -0.19 (95% CI -0.63 to 0.25, <i>p</i> = 0.40) in untreated participants and -0.21 (95% CI -0.43 to 0.01, <i>p</i> = 0.06) in treated participants (difference = -0.02, 95% CI -0.49 to 0.46, <i>p</i> = 0.94).</p><p><strong>Discussion: </strong>The SMA-FCR broadens the spectrum of abilities captured in SMA. Analyses of the treated-untreated differences in mean annual rate of change suggest that the SMA-FCR may be more sensitive to change than the HFMSE. The use of the SMA-FCR in clinical trials might allow for study designs with broader eligibility criteria including weaker individuals who score minimally on the HFMSE and stronger individuals who score maximally on the RULM.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 2","pages":"e213839"},"PeriodicalIF":7.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12205743/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144512221","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":"The Progression of Infantile Spinal Muscular Atrophy: Why Gestational Age Matters.","authors":"Madeline Aldridge, Charlotte J Sumner","doi":"10.1212/WNL.0000000000213923","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213923","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 2","pages":"e213923"},"PeriodicalIF":7.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144512240","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 Cannon-Marañón Correspondence and the Autonomic Physiology of Emotion (1919-1936).","authors":"Jose-Alberto Palma,Fermin Palma","doi":"10.1212/wnl.0000000000213952","DOIUrl":"https://doi.org/10.1212/wnl.0000000000213952","url":null,"abstract":"Between 1919 and 1936, American physiologist Walter B. Cannon and Spanish physician Gregorio Marañón engaged in a sustained transatlantic correspondence that shed light on emerging ideas about the physiologic basis of emotion. Drawing on letters preserved at Harvard's Countway Library of Medicine and the Fundación Ortega-Marañón in Madrid, we examine how their dialogue bridged experimental physiology and clinical neuroendocrinology during a formative era in modern neuroscience. Cannon, widely known for introducing the concepts of \"homeostasis\" and the \"fight-or-flight\" response, saw in Marañón's clinical observations a compelling complement to his laboratory findings. In particular, Cannon repeatedly cited Marañón's work on the emotional effects of adrenaline, which distinguished between purely physiologic visceral reactions without subjective emotion (\"cold emotion\") and full subjective emotional states (\"hot emotion\"). This nuanced differentiation anticipated later cognitive and constructivist theories of emotion. Their exchange helped shape foundational concepts in affective and autonomic neuroscience by linking internal affective states to neuroendocrine mechanisms and observable bodily responses. These ideas would later cohere in Cannon's The Wisdom of the Body (1932), where traces of their correspondence are evident. Beyond their scientific importance, the Cannon-Marañón letters offer a rare window into the international and interdisciplinary networks that shaped biomedical thought in the early 20th century. It also reflects broader commitments because both men had a relevant political involvement. By recovering this epistolary exchange, we shed light on an overlooked chapter in the history of neuroscience and the enduring value of scientific dialogue.","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"53 1","pages":"e213952"},"PeriodicalIF":9.9,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144684166","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":"General vs Nongeneral Anesthesia for Endovascular Thrombectomy in Patients With Large Core Strokes: A Prespecified Secondary Analysis of SELECT2 Trial.","authors":"Amrou Sarraj, Spiros Blackburn, Michael G Abraham, Muhammad S Hussain, Santiago Ortega-Gutierrez, Michael Chen, Scott E Kasner, Leonid Churilov, Clark W Sitton, Deep K Pujara, Sophia Sundararajan, Yin C Hu, Nabeel A Herial, Ronald F Budzik, William J Hicks, Nirav Vora, Juan F Arenillas, Mercedes De Lara Alfonso, Maria E Ramos Araque, Jenny P Tsai, Mohammed A Abdulrazzak, Osman Kozak, Bernard Yan, Peter J Mitchell, Dennis J Cordato, Nathan W Manning, Andrew Cheung, Ricardo A Hanel, Amin N Aghaebrahim, Teddy Y Wu, Pere Cardona Portela, Andres J Paipa Merchán, Chirag D Gandhi, Fawaz Al-Mufti, Edgar A Samaniego, Laith Maali, Abed Qureshi, Colleen G Lechtenberg, Sabreena Slavin, Lee Rosterman, Daniel Gibson, Adam N Wallace, Daniel Sahlein, Natalia Pérez de la Ossa, Maria Hernández Pérez, Joanna D Schaafsma, Jordi Blasco, Arturo Renú, Navdeep Sangha, Steven Warach, Timothy J Kleinig, Michael Mullen, Lucas Elijovich, Faris Shaker, Faisal K Al-Shaibi, Hannah Johns, Kelsey R Duncan, Amanda Opaskar, Marc J Popovic, Michael Altose, Abhishek Ray, Wei Xiong, Jeffrey Sunshine, Michael DeGeorgia, Thanh N Nguyen, Johanna T Fifi, Stavropoula Tjoumakaris, Pascal Jabbour, Vitor Mendes Pereira, Maarten G Lansberg, Greg W Albers, Cathy Sila, Nicholas Bambakidis, Stephen Davis, Lawrence Wechsler, Michael D Hill, James C Grotta, Marc Ribo, Ameer E Hassan, Bruce C Campbell","doi":"10.1212/WNL.0000000000213819","DOIUrl":"10.1212/WNL.0000000000213819","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background and objectives: &lt;/strong&gt;The association of anesthesia approach during endovascular thrombectomy (EVT) with clinical outcomes in large strokes is unexplored. We aimed to evaluate whether general anesthesia (GA), compared with non-GA, was associated with better functional outcomes in the SELECT2 trial.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;In a prespecified secondary analysis of the SELECT2 trial that enrolled patients with large strokes on noncontrast CT (Alberta Stroke Program Early CT Score [ASPECTS] 3-5), CT perfusion/MRI (core volume ≥50 mL), or both, functional outcomes were compared in EVT-treated patients who received GA or non-GA and whether this association was modified by stroke severity (NIH Stroke Scale score), ischemic injury estimates, and collateral status was evaluated. The primary outcome was 90-day functional status (ordinal modified Rankin Scale [mRS]). Secondary outcomes were functional independence (mRS scores 0-2), independent ambulation (mRS scores 0-3), complete dependence or death (mRS scores 5-6), and mortality.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Of 178 EVT patients (median [interquartile range] age 66 [58-75] years, stroke severity 19 [15-23], CT-ASPECTS 4 [3-5], and core volume 101.5 [70-138] mL, 71 women [39.9%]), 104 (58%) received GA. Time from randomization to arterial puncture was longer with GA (40 [23-59] minutes) vs non-GA (27 [18-47] minutes), but procedural duration (GA: 57 [31.5-77] minutes vs non-GA: 49.5 [30-71] minutes) was similar. Successful reperfusion (modified treatment in cerebral infarction [mTICI] score 2b-3) rates were similar (GA 81 (78%) vs non-GA 62 (84%), adjusted relative risk [aRR] 0.91, 95% CI 0.79-1.06). In addition, mRS distribution did not differ between GA and non-GA groups (adjusted generalized odds ratio 1.21, 95% CI 0.86-1.70), as well as independent ambulation (GA: 41% vs non-GA: 34%, aRR 1.22, 95% CI 0.86-1.74) and functional independence (GA: 22% vs non-GA: 18%, aRR 1.32, 95% CI 0.75-2.35). Stroke severity, ASPECTS, ischemic core volume, or collaterals did not modify the association between anesthesia and functional outcome (all &lt;i&gt;p&lt;/i&gt;-interaction &gt;0.05). Patients experienced systolic blood pressure (SBP) variability ≥40 mm Hg and minimum intraprocedural SBP (&lt;100 mm Hg) more frequently with GA, but this did not modify GA association with functional outcomes (&lt;i&gt;p&lt;/i&gt;-interaction = 0.77 and 0.89, respectively).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Discussion: &lt;/strong&gt;In patients with large core strokes randomized in SELECT2, EVT outcomes did not differ significantly based on anesthesia approach (GA or non-GA) without heterogeneity across stroke severity and size. While GA was associated with higher SBP variability and lower minimum SBP, this did not modify GA association with functional outcomes. While allocation to anesthesia approach was nonrandomized, our findings suggest that optimizing institutional protocols for preferred anesthesia technique, whether GA or non-GA, may enhance EVT","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 2","pages":"e213819"},"PeriodicalIF":7.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144507118","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":"Rapid Diagnosis of Intracerebral Hemorrhage in Patients With Acute Stroke by Measuring Prehospital GFAP Levels on a Point-of-Care Device (DETECT).","authors":"Love-Preet Kalra, Sabina Zylyftari, Kristaps Blums, Stephan Barthelmes, Hannsjoerg Baum, Stephan Meckel, Andreas Heilgeist, Sebastian Luger, Christian Foerch","doi":"10.1212/WNL.0000000000213823","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213823","url":null,"abstract":"<p><strong>Background and objectives: </strong>The rapid identification of intracerebral hemorrhage (ICH) in patients with symptoms of acute stroke is decisive for prehospital triage and initiation of targeted therapies. Glial fibrillary acidic protein (GFAP) is a highly promising blood-biomarker indicating ICH. In this study, we investigated the potential of a new GFAP test run on a point-of-care platform for distinguishing ICH from ischemic stroke (IS) and stroke mimics (SM) in the prehospital phase.</p><p><strong>Methods: </strong>This prospective diagnostic accuracy study was conducted at the RKH Klinikum Ludwigsburg, a tertiary care hospital in Baden-Württemberg, Germany. Patients with symptoms of acute stroke admitted within 6 hours of symptom onset were enrolled. Blood samples were collected in the prehospital phase. Plasma GFAP measurements were performed on the i-STAT-Alinity device (duration: 15 minutes) in-hospital. The gold standard was the final diagnosis categorized ICH, IS, or SM.</p><p><strong>Results: </strong>A total of 353 patients were enrolled (mean age 74.6 ± 13.4 years; 46.7% female). GFAP concentrations were elevated in patients with ICH (n = 76; median 208 pg/mL [interquartile range 60-5,907]) compared with IS (n = 258; 30 pg/mL [29-51]) and SM (n = 19; 48 pg/mL [29-97]; <i>p</i> < 0.001). The optimal GFAP cutoff point to differentiate ICH from IS and SM was 55 pg/mL (area under the curve of 0.880, 95% CI 0.834-0.925, <i>p</i> < 0.001). IS and SM GFAP levels slightly increased in parallel with increasing age. Hence, different GFAP cutoff points were determined to identify ICH across 3 age groups with moderate to high positive predictive values (PPVs) (90.0%-95.5%; minimum lower CI 55.0%, maximum upper CI 99.3%) (sensitivity values 56.3%-72.4%, specificity values 98.9%-99.0% and negative predictive values [NPVs] 87.5%-92.7%). Vice versa, in patients with a moderate to severe neurologic deficit (NIH Stroke Scale >6), GFAP values <30 pg/mL ruled out ICH with a NPV of 100.0%.</p><p><strong>Discussion: </strong>Laboratory GFAP measurements on a point-of-care platform in blood samples collected from patients with symptoms of acute stroke in the prehospital phase can help to identify ICH with moderate to high PPV. Following confirmation in larger independent cohorts using optimized eligibility criteria and validated age-specific cutoff values, GFAP testing could facilitate optimized triage and the initiation of blood pressure-lowering therapy and anticoagulation reversal in earlier time frames.</p><p><strong>Classification of evidence: </strong>This study provides Class II evidence that elevated plasma GFAP levels within 6 hours of symptom onset accurately distinguish patients with ICH from IS and SM.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 2","pages":"e213823"},"PeriodicalIF":7.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144507123","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":"Intracranial Nonstenosing Atherosclerotic Plaques Assessed With Vessel Wall MRI in Patients With Embolic Stroke of Undetermined Source.","authors":"Federico Mazzacane, Beatrice Del Bello, Elisa Rognone, Carlo Asteggiano, Federica Ferrari, Alessandra Persico, Alfredo Costa, Roberto De Icco, Andrea Morotti, Anna Pichiecchio, Anna Cavallini","doi":"10.1212/WNL.0000000000213833","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213833","url":null,"abstract":"<p><strong>Background and objectives: </strong>Artery-to-artery embolization from vulnerable intracranial nonstenosing atherosclerotic plaques (vNSPs) has been proposed as a major contributor to embolic stroke of undetermined source (ESUS). Vessel wall MRI (VWMRI) offers the potential to identify culprit vNSPs, yet prospective studies in ESUS populations are lacking. This study aimed to assess the role of vNSPs in single-territory ESUS and to evaluate the utility of intracranial VWMRI in the diagnostic workup.</p><p><strong>Methods: </strong>Consecutive patients admitted to the Stroke Unit of the IRCCS Mondino Foundation (Pavia, Italy) with a confirmed ESUS diagnosis after a complete etiologic workup were prospectively enrolled in the study. Patients with multiterritorial ischemic lesions, complicated aortic arch atherosclerosis, or a probable patent foramen ovale-associated stroke were excluded. Intracranial VWMRI at 3-T was performed within 1 month of the index event. Atherosclerotic lesions were considered culprit if demonstrating postcontrast enhancement on T1-weighted images and a location consistent with ischemic lesions' distribution. Quantitative radiologic features of vNSPs were also analyzed.</p><p><strong>Results: </strong>A total of 80 patients (mean age 65.6 years, 34 [42.5%] women) were included. VWMRI identified a potentially culprit vNSP in 23 of 80 patients (28.8%, 95% CI 20-39.5). Patients with symptomatic vNSPs were older (72.7 vs 62.8 years, <i>p</i> = 0.002) and more frequently current (43.5 vs 35.1%) or former (30.4 vs 8.8%) smokers (<i>p</i> = 0.014). In a multivariable logistic regression model including major risk factors of intracranial atherosclerosis (age, smoking, hypertension, diabetes, and dyslipidemia), both age (adjusted odds ratio [aOR] 1.12, 95% CI 1.05-1.22, <i>p</i> = 0.002) and smoking status (active smokers: aOR 7.99, 95% CI 1.81-47.8, <i>p</i> = 0.011; former smokers: aOR 8.79, 95% CI 1.73-55.0, <i>p</i> = 0.012) were significantly associated with symptomatic vNSP.</p><p><strong>Discussion: </strong>Intracranial vNSPs may represent a significant underlying cause of single-territory ESUS, and VWMRI could provide an added value in the diagnostic workup of these patients. Older age and smoking exposure were found to be independently associated with the presence of culprit intracranial vNSPs. Further studies are needed to confirm our findings because of the relatively small and monocentric cohort.</p><p><strong>Classification of evidence: </strong>This study provides Class IV evidence that VWMRI improves the identification of culprit vNSPs in patients with ESUS.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 2","pages":"e213833"},"PeriodicalIF":7.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144507120","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":"Persistent Postictal Central Apnea in Focal Seizures: Incidence, Features, and Imaging Findings.","authors":"Stefano Meletti,Margherita Burani,Alice Ballerini,Giada Giovannini,Elisa Micalizzi,Niccolò Orlandi,Lisa Taruffi,Niccolò Biagioli,Simona Scolastico,Laura Madrassi,Matteo Pugnaghi,Anna Elisabetta Vaudano","doi":"10.1212/wnl.0000000000213856","DOIUrl":"https://doi.org/10.1212/wnl.0000000000213856","url":null,"abstract":"BACKGROUND AND OBJECTIVESPostconvulsive central apnea has emerged as a contributor to sudden unexplained death in epilepsy. The aim of this study was to evaluate the incidence and characteristics of postictal central apnea (PICA) in focal seizures. The secondary aim was to analyze morphometric features of the amygdala and other subcortical structures involved in autonomic control.METHODSWe prospectively enrolled consecutive patients admitted to the Epilepsy Monitoring Unit at Modena Academic Hospital (Italy) from April 2020 to December 2023. Inclusion criteria were as follows: (1) age older than 13 years; (2) at least 1 focal-onset seizure recorded during long-term video-EEG monitoring (LTVEM) with cardiorespiratory polygraphy. For each seizure, the presence of ictal central apnea (ICA) and/or PICA and its features were evaluated. Amygdala, hippocampus, thalamus, brainstem, and cerebellum volumetry were compared in patients with ICA/PICA with respect to healthy controls and patients with focal seizures without peri-ictal breathing disorders.RESULTSA total of 69 patients (mean age 35.7 years; 42% female) with 406 focal-onset seizures were analyzed. ICA was recorded in 71 seizures (17%) in 27 patients. PICA was recorded in 24 seizures in 12 patients (10 with temporal lobe epilepsy) corresponding to 5.9% of all recorded seizures. Notably, PICA was observed only in seizures showing ictal apnea (in 33.8%). In 11 seizures with PICA, a single apneic event starting in the ictal and extending to the postictal period was observed. In 13 seizures, multiple apneic events were present in the postictal period (range 2-8). Seizures with PICA showed a longer peri-ictal apnea time (mean 75 seconds vs 40 seconds; p = 0.007) and a longer time to restore a regular rhythmic breathing after seizure termination (mean 173 seconds vs 42 seconds; p < 0.001) than seizures with self-limiting ictal apnea. Amygdala volumes ipsilateral to the epileptogenic zone were larger in patients with ICA/PICA compared with controls and patients without seizure-related apnea.DISCUSSIONPICA occurs in approximately 6% of focal seizures and is associated with extended apnea time and an enlarged amygdala ipsilaterally to the epileptogenic zone. Our data support the existence of a continuum from ictal to PICA and highlight the importance of cardiorespiratory recordings in LTVEM.","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"25 1","pages":"e213856"},"PeriodicalIF":9.9,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144684140","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 Adaptive Function in Individuals With SCN2A-Related Disorders.","authors":"Beatrice Southby Goad,Jill Rodda,Meagan Allen,Daniel Bamborschke,Isabella Overmars,Rachel J Kerr,Ittai Bushlin,Saurabh Chopra,Rohini Coorg,Gabriel Dabscheck,Jeremy L Freeman,Mark T Mackay,Orrin Devinsky,Renzo Guerrini,Elena Parrini,Bigna Bölsterli,Inna Hughes,Linda L Huh,Mahesh Kamate,Abby B Kunz,Gia Melikishvili,Christina Miteff,Kenneth Alexis Myers,Heather E Olson,Annapurna Poduri,Sekhar Pillai,Catherine Kate Riney,Adriane Sinclair,Sophie Calvert,Thomas Q Reynolds,Ana Roche Martinez,Angelo Russo,Lynette Grant Sadleir,Iciar Sanchez-Albisua,Stefano Sartori,Stephanie Shea,Constance L Smith-Hicks,Claire G Spooner,Rhys H Thomas,Simone L Ardern-Holmes,Richard Ian Webster,Massimiliano Valeriani,Pierangelo Veggiotti,Silvia Masnada,Tyson L Ware,Michael Yoong,Geza Berecki,Angela De Dominicis,Nicola Specchio,Marina Trivisano,Rikke Steensbjerre Møller,Markus Wolff,Walid Fazeli,Ingrid Scheffer,Katherine B Howell","doi":"10.1212/wnl.0000000000213868","DOIUrl":"https://doi.org/10.1212/wnl.0000000000213868","url":null,"abstract":"BACKGROUND AND OBJECTIVESDevelopmental impairment is common in individuals with SCN2A-related disorders, although descriptions are limited. We aimed to determine trajectories and outcomes of development and adaptive function.METHODSThis was a mixed retrospective cross-sectional study of individuals from an international SCN2A Natural History Study, who had neurologic/neurodevelopmental disorders due to an SCN2A variant. Individuals with SCN2A intragenic variants were grouped into early-onset (EO) and late-onset (LO) phenotypic groups; those with SCN2A-containing 2q24.3 copy number variants (CNVs) were considered separately. We collected medical and developmental history from parents/caregivers and medical records. Adaptive function and behavior were characterized using functional classification system levels and Vineland Adaptive Behavior Scales-3 (VABS-3) Parent/Caregiver Form. We repeated analyses on individuals with variants known to result in gain-of-function (GOF, typically EO phenotypes) or loss-of-function (LOF, typically LO phenotypes).RESULTSA total of 100 individuals (age 0.1-21.9 years, 39% female) were studied. Phenotypic groups were EO (n = 44), LO (n = 48), and 2q24.3 CNV (n = 8). Developmental delay/intellectual disability was present in 91 of 100, and 23 of 80 individuals (29%) older than 2 years had autism spectrum disorder. Of people older than the typical age for skill attainment, 59 of 95 (62%) could sit and 48 of 88 (55%) could walk. In addition, 27 of 86 individuals (31%) spoke more than 1-5 single words, and 24 of 74 (32%) followed two-step commands. Median VABS-3 Adaptive Behavior Composite (ABC) scores were as follows: the EO phenotypic group had a score of 56 (range 21-110), the LO phenotypic group had a score of 45 (range 20-89), and 5 of 6 with a 2q24.3 CNV had an ABC score of <45. The EO phenotypic group had 3 distinct subgroups, consistent with \"benign,\" \"intermediate,\" and \"severe\" definitions previously published. The LO phenotypic group showed a continuum of severity, without distinct clusters. However, clinically relevant differences in motor function were evident when subgrouped by seizure-onset age; a lower proportion with earlier seizure onset (age <18 months) were independently ambulant than those with later onset or no seizures (5/15 [33%] vs 10/12 [83%] vs 14/15 [93%], p < 0.01). Analyses of individuals with confirmed GOF/LOF variants (n = 57) showed similar results to the EO/LO analyses.DISCUSSIONThe spectrum of developmental impairments and adaptive function in SCN2A-related disorders is extremely broad. Phenotypic subgroups provide prognostic information and critically inform clinical trial design.","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"282 1","pages":"e213868"},"PeriodicalIF":9.9,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144684142","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}