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Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders 神经发育障碍基因检测社会实践指南现状调查。
IF 8.1 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-25 DOI: 10.1002/ana.27045
Siddharth Srivastava MD, Jordan J. Cole MD, Julie S. Cohen ScM, Maya Chopra MBBS, FRACP, Hadley Stevens Smith PhD, MPSA, Matthew A. Deardorff MD, PhD, Ernest Pedapati MD, MS, FAAP, Brian Corner MS, Julia S. Anixt MD, Shafali Jeste MD, Mustafa Sahin MD, PhD, Christina A. Gurnett MD, PhD, Colleen A. Campbell PhD, MS, the Intellectual and Developmental Disabilities Research Center (IDDRC) Workgroup on Advocating for Access to Genomic Testing

Genetic testing of patients with neurodevelopmental disabilities (NDDs) is critical for diagnosis, medical management, and access to precision therapies. Because genetic testing approaches evolve rapidly, professional society practice guidelines serve an essential role in guiding clinical care; however, several challenges exist regarding the creation and equitable implementation of these guidelines. In this scoping review, we assessed the current state of United States professional societies' guidelines pertaining to genetic testing for unexplained global developmental delay, intellectual disability, autism spectrum disorder, and cerebral palsy. We describe several identified shortcomings and argue the need for a unified, frequently updated, and easily-accessible cross-specialty society guideline. ANN NEUROL 2024;96:900–913

对神经发育障碍(NDD)患者进行基因检测对于诊断、医疗管理和获得精准治疗至关重要。由于基因检测方法发展迅速,专业协会的实践指南在指导临床治疗方面发挥着至关重要的作用;然而,在这些指南的制定和公平实施方面存在着一些挑战。在此次范围界定审查中,我们评估了美国专业协会有关不明原因的全球发育迟缓、智力障碍、自闭症谱系障碍和脑瘫基因检测指南的现状。我们描述了已发现的几个不足之处,并认为有必要制定一个统一的、经常更新的、易于获取的跨专业学会指南。ann neurol 2024.
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引用次数: 0
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder. CUL3的功能缺失变异导致综合神经发育障碍
IF 8.1 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-20 DOI: 10.1002/ana.27077
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C Herkert, Tuula Rinne, Isabelle Thiffault, Michele Rapp, Mariel Alders, Saskia Maas, Bénédicte Gerard, Thomas Smol, Catherine Vincent-Delorme, Benjamin Cogné, Bertrand Isidor, Marie Vincent, Ruxandra Bachmann-Gagescu, Anita Rauch, Pascal Joset, Giovanni Battista Ferrero, Andrea Ciolfi, Thomas Husson, Anne-Marie Guerrot, Carlos Bacino, Colleen Macmurdo, Stephanie S Thompson, Jill A Rosenfeld, Laurence Faivre, Frederic Tran Mau-Them, Wallid Deb, Virginie Vignard, Pankaj B Agrawal, Jill A Madden, Alice Goldenberg, François Lecoquierre, Michael Zech, Holger Prokisch, Ján Necpál, Robert Jech, Juliane Winkelmann, Monika Turčanová Koprušáková, Vassiliki Konstantopoulou, John R Younce, Marwan Shinawi, Chloe Mighton, Charlotte Fung, Chantal F Morel, Jordan Lerner-Ellis, Stephanie DiTroia, Magalie Barth, Dominique Bonneau, Ingrid Krapels, Alexander P A Stegmann, Vyne van der Schoot, Theresa Brunet, Cornelia Bußmann, Cyril Mignot, Giuseppe Zampino, Saskia B Wortmann, Johannes A Mayr, René G Feichtinger, Thomas Courtin, Claudia Ravelli, Boris Keren, Alban Ziegler, Linda Hasadsri, Pavel N Pichurin, Eric W Klee, Katheryn Grand, Pedro A Sanchez-Lara, Elke Krüger, Stéphane Bézieau, Hannah Klinkhammer, Peter Michael Krawitz, Evan E Eichler, Marco Tartaglia, Sébastien Küry, Tianyun Wang

Objective: De novo variants in cullin-3 ubiquitin ligase (CUL3) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here, we aimed to collect sporadic cases carrying rare variants in CUL3, describe the genotype-phenotype correlation, and investigate the underlying pathogenic mechanism.

Methods: Genetic data and detailed clinical records were collected via multicenter collaboration. Dysmorphic facial features were analyzed using GestaltMatcher. Variant effects on CUL3 protein stability were assessed using patient-derived T-cells.

Results: We assembled a cohort of 37 individuals with heterozygous CUL3 variants presenting a syndromic NDD characterized by intellectual disability with or without autistic features. Of these, 35 have loss-of-function (LoF) and 2 have missense variants. CUL3 LoF variants in patients may affect protein stability leading to perturbations in protein homeostasis, as evidenced by decreased ubiquitin-protein conjugates in vitro. Notably, we show that 4E-BP1 (EIF4EBP1), a prominent substrate of CUL3, fails to be targeted for proteasomal degradation in patient-derived cells.

Interpretation: Our study further refines the clinical and mutational spectrum of CUL3-associated NDDs, expands the spectrum of cullin RING E3 ligase-associated neuropsychiatric disorders, and suggests haploinsufficiency via LoF variants is the predominant pathogenic mechanism. ANN NEUROL 2024.

目的:cullin-3泛素连接酶(CUL3)的新变异与神经发育障碍(NDDs)密切相关,但迄今为止尚未有大规模的病例报道。在此,我们旨在收集携带CUL3罕见变异的散发性病例,描述基因型与表型的相关性,并研究其潜在的致病机制:方法:通过多中心合作收集遗传数据和详细的临床记录。方法:通过多中心合作收集遗传数据和详细的临床记录,使用 GestaltMatcher 分析畸形面部特征。使用患者衍生 T 细胞评估变异对 CUL3 蛋白稳定性的影响:我们收集了37名具有杂合子CUL3变异的个体,这些个体表现为以智力障碍为特征的综合型NDD,伴有或不伴有自闭症特征。其中,35 例为功能缺失(LoF)变异,2 例为错义变异。患者体内的 CUL3 LoF 变异可能会影响蛋白质的稳定性,导致蛋白质平衡紊乱,体外泛素-蛋白质共轭物的减少就是证明。值得注意的是,我们发现在患者衍生细胞中,CUL3的主要底物4E-BP1(EIF4EBP1)未能成为蛋白酶体降解的靶标:我们的研究进一步完善了CUL3相关神经精神疾病的临床和突变谱,扩展了cullin RING E3连接酶相关神经精神疾病的谱系,并提示通过LoF变体导致的单倍体功能缺失是主要的致病机制。ann neurol 2024.
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引用次数: 0
Laser Ablation of Periventricular Nodular Heterotopia for Medically Refractory Epilepsy 激光消融治疗药物难治性癫痫的室周结节性异位症
IF 11.2 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-19 DOI: 10.1002/ana.27059
Ryan M. McCormack, Arjun S. Chandran, Samden D. Lhatoo, Sandipan Pati, Zhouxuan Li, Katherine Harris, Nuria Lacuey, Giridhar Kalamangalam, Stephen Thompson, Nitin Tandon
Periventricular nodular heterotopia (PVNH) is the most common neuronal heterotopia, frequently resulting in pharmaco-resistant epilepsy. Here, we characterize variables that predict good epilepsy outcomes following surgical intervention using stereo-electroencephalography (SEEG) -informed magnetic resonance-guided laser interstitial thermal therapy (MRgLITT).
脑室周围结节性异位症(PVNH)是最常见的神经元异位症,经常导致药物抵抗性癫痫。在此,我们对使用立体脑电图(SEEG)--磁共振引导激光间质热疗(MRgLITT)--进行手术干预后预测良好癫痫预后的变量进行了描述。
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引用次数: 0
Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B) 美国脊髓小脑共济失调(SCA27B)大样本的临床、放射学和病理学特征
IF 11.2 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-12 DOI: 10.1002/ana.27060
Widad Abou Chaar, Anirudh N. Eranki, Hannah A. Stevens, Sonya L. Watson, Darice Y. Wong, Veronica S. Avila, Megan Delfeld, Alexander J. Gary, Sanjukta Tawde, Malia Triebold, Marcello Cherchi, Tao Xie, Paul J. Lockhart, Melanie Bahlo, David Pellerin, Marie‐Josée Dicaire, Matt Danzi, Stephan Zuchner, Bernard C. Brais, Susan Perlman, Margit Burmeister, Henry Paulson, Sharan Srinivasan, Lawrence Schut, Matthew Bower, Khalaf Bushara, Chuanhong Liao, Vikram G. Shakkottai, John Collins, H. Brent Clark, Soma Das, Brent L. Fogel, Christopher M. Gomez
ObjectivesSpinocerebellar ataxia 27B due to GAA repeat expansions in the fibroblast growth factor 14 (FGF14) gene has recently been recognized as a common cause of late‐onset hereditary cerebellar ataxia. Here we present the first report of this disease in the US population, characterizing its clinical manifestations, disease progression, pathological abnormalities, and response to 4‐aminopyridine in a cohort of 102 patients bearing GAA repeat expansions.MethodsWe compiled a series of patients with SCA27B, recruited from 5 academic centers across the United States. Clinical manifestations and patient demographics were collected retrospectively from clinical records in an unblinded approach using a standardized form. Post‐mortem analysis was done on 4 brains of patients with genetically confirmed SCA27B.ResultsIn our cohort of 102 patients with SCA27B, we found that SCA27B was a late‐onset (57 ± 12.5 years) slowly progressive ataxia with an episodic component in 51% of patients. Balance and gait impairment were almost always present at disease onset. The principal finding on post‐mortem examination of 4 brain specimens was loss of Purkinje neurons that was most severe in the vermis most particularly in the anterior vermis. Similar to European populations, a high percent of patients 21/28 (75%) reported a positive treatment response with 4‐aminopyridine.InterpretationOur study further estimates prevalence and further expands the clinical, imaging and pathological features of SCA27B, while looking at treatment response, disease progression, and survival in patients with this disease. Testing for SCA27B should be considered in all undiagnosed ataxia patients, especially those with episodic onset. ANN NEUROL 2024
摘要:由于成纤维细胞生长因子 14(FGF14)基因中的 GAA 重复扩增导致的小脑共济失调 27B 最近被认为是晚发性遗传性小脑共济失调的常见病因。在此,我们首次在美国人群中报告了这种疾病,并对102例GAA重复扩增患者的临床表现、疾病进展、病理异常以及对4-氨基吡啶的反应进行了描述。临床表现和患者人口统计学资料是使用标准化表格从临床记录中以非盲法回顾性收集的。结果在我们的 102 名 SCA27B 患者队列中,我们发现 SCA27B 是一种晚发(57 ± 12.5 岁)缓慢进行性共济失调,51% 的患者有发作性共济失调。起病时几乎总是存在平衡和步态障碍。对 4 个大脑标本进行尸检的主要发现是 Purkinje 神经元的缺失,这种缺失在蚓部最为严重,尤其是在前蚓部。我们的研究进一步估计了SCA27B的患病率,并进一步扩展了SCA27B的临床、影像和病理特征,同时研究了该病患者的治疗反应、疾病进展和生存情况。所有未确诊的共济失调患者,尤其是偶发性发病的患者,都应考虑进行SCA27B检测。ann neurol 2024
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引用次数: 0
Mineralizing Lenticulostriate Vasculopathy and Traumatic Infarction 矿化韧带血管病和创伤性脑梗塞
IF 11.2 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-12 DOI: 10.1002/ana.27079
Mingyao Li, Tsecheng Chiu, Guofeng Ma, Ning Ma

Potential Conflicts of Interest

Nothing to report.

潜在利益冲突无须报告。
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引用次数: 0
Annals of Neurology: Volume 96, Number S32, September 2024 神经病学年鉴》:第 96 卷,第 S32 号,2024 年 9 月
IF 8.1 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-11 DOI: 10.1002/ana.27074
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引用次数: 0
Before, during, and after: An Argument for Safety and Improved Outcome of Thrombolysis in Acute Ischemic Stroke with Direct Oral Anticoagulant Treatment 治疗前、治疗中和治疗后:急性缺血性中风患者直接口服抗凝剂溶栓治疗的安全性和更佳疗效论证
IF 8.1 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-11 DOI: 10.1002/ana.27058
Sanaz Monjazeb MD, Heather V. Chang BS, Patrick D. Lyden MD

Direct oral anticoagulants are the primary stroke prevention option in patients with atrial fibrillation. Anticoagulant use before stroke, however, might inhibit clinician comfort with thrombolysis if a stroke does occur. Resuming anticoagulants after ischemic stroke is also problematic for fear of hemorrhage. We describe extensive literature showing that thrombolysis is safe after stroke with direct anticoagulant use. Early reinstitution of direct anticoagulant treatment is associated with lower risk of embolic recurrence and lower hemorrhage risk. The use of direct anticoagulants before, during, and after thrombolysis appears to be safe and is likely to promote improved outcomes after ischemic stroke. ANN NEUROL 2024;96:871–886

直接口服抗凝剂是心房颤动患者预防中风的主要选择。然而,中风前使用抗凝剂可能会影响临床医生在中风发生时对溶栓治疗的适应性。缺血性卒中后恢复使用抗凝药物也会因担心出血而产生问题。我们描述了大量文献,其中显示中风后使用直接抗凝剂溶栓是安全的。尽早恢复直接抗凝剂治疗与较低的栓塞复发风险和较低的出血风险有关。在溶栓前、溶栓期间和溶栓后使用直接抗凝剂似乎是安全的,并有可能改善缺血性中风后的预后。ann neurol 2024
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引用次数: 0
Issue Information – TOC 发行信息 - TOC
IF 8.1 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-11 DOI: 10.1002/ana.27075
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引用次数: 0
149th Annual Meeting American Neurological Association 第 149 届美国神经学协会年会
IF 8.1 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-11 DOI: 10.1002/ana.27051
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引用次数: 0
Slowly Expanding Lesions Differentiate Pediatric Multiple Sclerosis from Myelin Oligodendrocyte Glycoprotein Antibody Disease. 缓慢扩展的病变将小儿多发性硬化症与髓鞘少突胶质细胞糖蛋白抗体病区分开来。
IF 8.1 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-07 DOI: 10.1002/ana.27066
Giulia Fadda, Brenda Banwell, Colm Elliott, Dumitru Fetco, Douglas L Arnold, Patrick Waters, E Ann Yeh, Ruth Ann Marrie, Amit Bar-Or, Sridar Narayanan

Slowly expanding lesions (SELs) in adults with multiple sclerosis (MS) indicate a progressive pathological process. Whether SELs are present in pediatric-onset MS (POMS) or myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is unknown. We studied 19 children with POMS and 14 with MOGAD (median age 14.3 and 9.4 years, respectively) recruited to the Canadian Pediatric Demyelinating Disease Study with: (1) ≥3 research scans 12 months apart; and (2) ≥1 T2-lesions on the earliest scan. A total of 70 SELs from 16 POMS participants and 1 SEL in the MOGAD group were detected. SELs are an early feature of POMS and essentially not a feature of MOGAD. ANN NEUROL 2024.

成人多发性硬化症(MS)患者的缓慢扩展病变(SELs)预示着一种进行性病理过程。小儿多发性硬化症(POMS)或髓鞘少突胶质细胞糖蛋白抗体相关疾病(MOGAD)是否存在缓慢扩展病变尚不清楚。我们对加拿大儿科脱髓鞘疾病研究(Canadian Pediatric Demyelinating Disease Study)招募的19名POMS患儿和14名MOGAD患儿(中位年龄分别为14.3岁和9.4岁)进行了研究:(1) 相隔 12 个月≥3 次研究扫描;(2) 在最早一次扫描中≥1 个 T2- 病变。16名POMS参与者共检测出70个SEL,MOGAD组检测出1个SEL。SEL是POMS的早期特征,基本上不是MOGAD的特征。ann neurol 2024.
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引用次数: 0
期刊
Annals of Neurology
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