Nature Reviews Neurology最新文献

英文中文

The influence of MOGAD on diagnosis of multiple sclerosis using MRI MOGAD 对使用磁共振成像诊断多发性硬化症的影响

IF 38.1 1区医学 Q1 CLINICAL NEUROLOGY

Nature Reviews Neurology

Pub Date : 2024-09-03 DOI: 10.1038/s41582-024-01005-2

Ruth Geraldes, Georgina Arrambide, Brenda Banwell, Àlex Rovira, Rosa Cortese, Hans Lassmann, Silvia Messina, Mara Assunta Rocca, Patrick Waters, Declan Chard, Claudio Gasperini, Yael Hacohen, Romina Mariano, Friedemann Paul, Gabriele C. DeLuca, Christian Enzinger, Ludwig Kappos, M. Isabel Leite, Jaume Sastre-Garriga, Tarek Yousry, Olga Ciccarelli, Massimo Filippi, Frederik Barkhof, Jacqueline Palace

Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is an immune-mediated demyelinating disease that is challenging to differentiate from multiple sclerosis (MS), as the clinical phenotypes overlap, and people with MOGAD can fulfil the current MRI-based diagnostic criteria for MS. In addition, the MOG antibody assays that are an essential component of MOGAD diagnosis are not standardized. Accurate diagnosis of MOGAD is crucial because the treatments and long-term prognosis differ from those for MS. This Expert Recommendation summarizes the outcomes from a Magnetic Resonance Imaging in MS workshop held in Oxford, UK in May 2022, in which MS and MOGAD experts reflected on the pathology and clinical features of these disorders, the contributions of MRI to their diagnosis and the clinical use of the MOG antibody assay. We also critically reviewed the literature to assess the validity of distinctive imaging features in the current MS and MOGAD criteria. We conclude that dedicated orbital and spinal cord imaging (with axial slices) can inform MOGAD diagnosis and also illuminate differential diagnoses. We provide practical guidance to neurologists and neuroradiologists on how to navigate the current MOGAD and MS criteria. We suggest a strategy that includes useful imaging discriminators on standard clinical MRI and discuss imaging features detected by non-conventional MRI sequences that demonstrate promise in differentiating these two disorders.

髓鞘少突胶质细胞糖蛋白（MOG）抗体相关性疾病（MOGAD）是一种免疫介导的脱髓鞘疾病，很难与多发性硬化症（MS）区分开来，因为两者的临床表型重叠，MOGAD 患者可以满足目前基于磁共振成像的多发性硬化症诊断标准。此外，作为 MOGAD 诊断重要组成部分的 MOG 抗体检测也没有标准化。由于 MOGAD 的治疗方法和长期预后与多发性硬化症不同，因此准确诊断 MOGAD 至关重要。本专家建议总结了 2022 年 5 月在英国牛津举行的多发性硬化症磁共振成像研讨会的成果，会上多发性硬化症和 MOGAD 专家对这些疾病的病理和临床特征、磁共振成像对诊断的贡献以及 MOG 抗体检测的临床应用进行了反思。我们还批判性地回顾了文献，以评估当前 MS 和 MOGAD 标准中独特成像特征的有效性。我们的结论是，专门的眼眶和脊髓成像（轴向切片）可为 MOGAD 诊断提供依据，同时也可用于鉴别诊断。我们为神经科医生和神经放射科医生提供了实用的指导，帮助他们掌握当前的 MOGAD 和 MS 标准。我们提出了一种策略，其中包括标准临床 MRI 上有用的成像判别指标，并讨论了通过非常规 MRI 序列检测到的成像特征，这些特征在区分这两种疾病方面显示出前景。

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引用次数: 0

Author Correction: Neurological care for LGBT+ people. 作者更正：LGBT+ 人士的神经护理。

IF 28.2 1区医学 Q1 CLINICAL NEUROLOGY

Nature Reviews Neurology

Pub Date : 2024-08-22 DOI: 10.1038/s41582-024-01015-0

Salvatore Giovanni Volpe, Joya Ahmad, Roshni Abee Patel, Nicole Rosendale

引用次数: 0

Insights from 25 years of onabotulinumtoxinA in migraine — mechanisms and management 25 年来在偏头痛治疗中使用鬼臼毒素的启示--机制与管理

IF 28.2 1区医学 Q1 CLINICAL NEUROLOGY

Nature Reviews Neurology

Pub Date : 2024-08-19 DOI: 10.1038/s41582-024-01002-5

Patricia Pozo-Rosich, Alicia Alpuente, Stephen D. Silberstein, Rami Burstein

OnabotulinumtoxinA (BTX-A) was first linked to beneficial effects in migraine 25 years ago and was approved by the FDA for preventive treatment of chronic migraine in 2010. The treatment has since had a major impact on the well-being of people with chronic migraine. The clinical development programme for BTX-A and research since its approval have provided insights into the neuromodulatory sensory effect of BTX-A, how it can control chronic migraine despite its peripheral action, and the underlying biology of migraine as a disease. In this Review, we consider the impact that BTX-A has had on the management of chronic migraine and on the research field. We discuss the insights provided by clinical research, encompassing the clinical trials and subsequent real-world evidence, and the mechanistic insights provided by preclinical and translational research. We also provide an overview of future directions of research in the field BTX-A in migraine and the clinical translation of this research. OnabotulinumtoxinA was first linked to beneficial effects in migraine 25 years ago and has since become a widely used treatment for chronic migraine. In this Review, Pozo-Rosich and colleagues consider the impact that onabotulinumtoxinA has had on the management of chronic migraine and on the research field.

25年前，OnabotulinumtoxinA（BTX-A）首次对偏头痛产生了有益的影响，并于2010年被美国食品及药物管理局批准用于慢性偏头痛的预防性治疗。自此，该疗法对慢性偏头痛患者的健康产生了重大影响。BTX-A的临床开发计划和获批后的研究工作让人们深入了解了BTX-A的神经调节感觉效应、BTX-A如何在外周作用的情况下控制慢性偏头痛，以及偏头痛这种疾病的潜在生物学特性。在本综述中，我们将探讨BTX-A对慢性偏头痛治疗和研究领域的影响。我们讨论了临床研究（包括临床试验和随后的实际证据）提供的见解，以及临床前研究和转化研究提供的机理见解。我们还概述了偏头痛 BTX-A 领域的未来研究方向以及该研究的临床转化。

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引用次数: 0

Antisense oligonucleotide shows potential in Charcot–Marie–Tooth disease 反义寡核苷酸显示出治疗夏科-玛丽-牙病的潜力

IF 28.2 1区医学 Q1 CLINICAL NEUROLOGY

Nature Reviews Neurology

Pub Date : 2024-08-12 DOI: 10.1038/s41582-024-01013-2

Ian Fyfe

Antisense oligonucleotide treatment has therapeutic potential in a severe form of Charcot–Marie–Tooth disease, according to a new study.

一项新的研究表明，反义寡核苷酸疗法对一种严重的夏科-玛丽-牙病具有治疗潜力。

引用次数: 0

Peripheral nervous system immune-related adverse events due to checkpoint inhibition 检查点抑制剂导致的外周神经系统免疫相关不良事件

IF 28.2 1区医学 Q1 CLINICAL NEUROLOGY

Nature Reviews Neurology

Pub Date : 2024-08-09 DOI: 10.1038/s41582-024-01001-6

Meabh O’Hare, Amanda C. Guidon

Immune checkpoint inhibitors have revolutionized cancer therapy and are increasingly used to treat a wide range of oncological conditions, with dramatic benefits for many patients. Unfortunately, the resulting increase in T cell effector function often results in immune-related adverse events (irAEs), which can involve any organ system, including the central nervous system (CNS) and peripheral nervous system (PNS). Neurological irAEs involve the PNS in two-thirds of affected patients. Muscle involvement (immune-related myopathy) is the most common PNS irAE and can be associated with neuromuscular junction involvement. Immune-related peripheral neuropathy most commonly takes the form of polyradiculoneuropathy or cranial neuropathies. Immune-related myopathy (with or without neuromuscular junction involvement) often occurs along with immune-related myocarditis, and this overlap syndrome is associated with substantially increased mortality. This Review focuses on PNS adverse events associated with immune checkpoint inhibition. Underlying pathophysiological mechanisms are discussed, including antigen homology between self and tumour, epitope spreading and activation of pre-existing autoreactive T cells. An overview of current approaches to clinical management is provided, including cytokine-directed therapies that aim to decouple anticancer immunity from autoimmunity and emerging treatments for patients with severe (life-threatening) presentations. Some patients who are treated with checkpoint inhibitors experience peripheral nervous system (PNS) immune-related adverse events (irAEs). O’Hare and Guidon describe the spectrum of PNS irAE phenotypes, discuss their underlying mechanisms and outline a consensus-based, pathophysiology-driven approach to their clinical management.

免疫检查点抑制剂彻底改变了癌症疗法，越来越多地用于治疗各种肿瘤疾病，给许多患者带来了巨大的益处。不幸的是，T细胞效应器功能的增强往往会导致免疫相关不良事件（irAEs），这些不良事件可能涉及任何器官系统，包括中枢神经系统（CNS）和外周神经系统（PNS）。三分之二的受影响患者的神经系统不良事件涉及 PNS。肌肉受累（免疫相关肌病）是最常见的 PNS irAE，可能与神经肌肉接头受累有关。免疫相关周围神经病变最常见的形式是多发性神经元病变或颅内神经病变。免疫相关性肌病（伴有或不伴有神经肌肉接头受累）通常与免疫相关性心肌炎同时发生，这种重叠综合征与死亡率大幅上升有关。本综述侧重于与免疫检查点抑制相关的 PNS 不良事件。其中讨论了潜在的病理生理学机制，包括自身与肿瘤之间的抗原同源性、表位扩散和原有自反应 T 细胞的激活。综述了目前的临床治疗方法，包括旨在使抗癌免疫与自身免疫脱钩的细胞因子导向疗法，以及针对重症（危及生命）患者的新兴疗法。

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引用次数: 0

Disentangling clinical and biological trajectories of neurodegenerative diseases 厘清神经退行性疾病的临床和生物学轨迹

IF 38.1 1区医学 Q1 CLINICAL NEUROLOGY

Nature Reviews Neurology

Pub Date : 2024-08-08 DOI: 10.1038/s41582-024-01004-3

Nicolas Villain, Vincent Planche

In recent years, we have seen a shift towards defining sporadic neurodegenerative diseases as a biological continuum. Here, we discuss the risks associated with this shift, emphasize the importance of maintaining a strong connection between disease definitions and subsequent clinical outcomes, and suggest clinicobiological frameworks to disentangle multiple discrete nosological entities.

近年来，我们看到了将散发性神经退行性疾病定义为一个生物学连续体的转变。在此，我们讨论了与这种转变相关的风险，强调了在疾病定义和后续临床结果之间保持紧密联系的重要性，并提出了临床生物学框架，以区分多个不同的命名实体。

引用次数: 0

Identifying and reducing risks of neurological complications associated with vaccination 识别并降低与疫苗接种相关的神经系统并发症风险。

IF 28.2 1区医学 Q1 CLINICAL NEUROLOGY

Nature Reviews Neurology

Pub Date : 2024-08-07 DOI: 10.1038/s41582-024-01000-7

Lahiru Handunnetthi, Maheshi N. Ramasamy, Lance Turtle, David P. J. Hunt

Vaccines protect against many infectious diseases, including some that can directly or indirectly cause nervous system damage. Serious neurological consequences of immunization are typically extremely rare, although they have the potential to jeopardize vaccination programmes, as demonstrated most recently during the COVID-19 pandemic. Neurologists have an important role in identifying safety signals at population and individual patient levels, as well as providing advice on the benefit–risk profile of vaccination in cohorts of patients with diverse neurological conditions. This article reviews the links between vaccination and neurological disease and considers how emerging signals can be evaluated and their mechanistic basis identified. We review examples of neurotropic infections with live attenuated vaccines, as well as neuroimmunological and neurovascular sequelae of other types of vaccines. We emphasize that such risks are typically dwarfed by neurological complications associated with natural infection and discuss how the risks can be further mitigated. The COVID-19 pandemic has highlighted the need to rapidly identify and minimize neurological risks of vaccination, and we review the structures that need to be developed to protect public health against these risks in the future. Vaccination has transformed the global fight against infectious diseases and has a highly favourable benefit–risk profile in most people, although adverse events, including neurological complications, can occasionally occur. This article reviews the links between vaccination and neurological disease and considers the role of neurologists in identifying safety signals and managing risk.

疫苗可预防许多传染病，包括一些可直接或间接造成神经系统损伤的疾病。免疫接种造成严重神经系统后果的情况通常极为罕见，但也有可能危及疫苗接种计划，最近的 COVID-19 大流行就证明了这一点。神经科医生在识别人群和个体患者的安全信号方面发挥着重要作用，他们还可以就不同神经系统疾病患者群体接种疫苗的收益-风险概况提供建议。本文回顾了疫苗接种与神经系统疾病之间的联系，并探讨了如何评估新出现的信号并确定其机理基础。我们回顾了减毒活疫苗引起神经刺激性感染的例子，以及其他类型疫苗引起的神经免疫和神经血管后遗症。我们强调，与自然感染相关的神经系统并发症相比，此类风险通常相形见绌，并讨论了如何进一步降低风险。COVID-19 大流行凸显了快速识别和最大限度降低疫苗接种的神经系统风险的必要性，我们回顾了为保护公众健康在未来免受这些风险影响而需要开发的结构。

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引用次数: 0

Smartphone calls to detect early Parkinsonism 通过智能手机通话检测早期帕金森病。

IF 28.2 1区医学 Q1 CLINICAL NEUROLOGY

Nature Reviews Neurology

Pub Date : 2024-08-06 DOI: 10.1038/s41582-024-01007-0

Lisa Kiani

引用次数: 0

Gaucher disease provides a unique window into Parkinson disease pathogenesis 戈谢病为了解帕金森病的发病机制提供了一个独特的窗口。

IF 28.2 1区医学 Q1 CLINICAL NEUROLOGY

Nature Reviews Neurology

Pub Date : 2024-08-06 DOI: 10.1038/s41582-024-00999-z

Ellen Hertz, Yu Chen, Ellen Sidransky

An exciting development in the field of neurodegeneration is the association between the rare monogenic disorder Gaucher disease and the common complex disorder Parkinson disease (PD). Gaucher disease is a lysosomal storage disorder resulting from an inherited deficiency of the enzyme glucocerebrosidase, encoded by GBA1, which hydrolyses the glycosphingolipids glucosylceramide and glucosylsphingosine. The observation of parkinsonism in a rare subgroup of individuals with Gaucher disease first directed attention to the role of glucocerebrosidase deficiency in the pathogenesis of PD. PD occurs more frequently in people heterozygous for Gaucher GBA1 mutations, and 3–25% of people with Parkinson disease carry a GBA1 variant. However, only a small percentage of individuals with GBA1 variants develop parkinsonism, suggesting that the penetrance is low. Despite over a decade of intense research in this field, including clinical and radiological evaluations, genetic studies and investigations using model systems, the mechanism underlying GBA1-PD is still being pursued. Insights from this association have emphasized the role of lysosomal pathways in parkinsonism. Furthermore, different therapeutic strategies considered or developed for Gaucher disease can now inform drug development for PD. The association between the rare, monogenic lysosomal storage disorder Gaucher disease and Parkinson disease has provided insights into the pathogenesis of this far more common neurodegenerative disease. Here, Sidransky and colleagues review the knowledge gained from decades of Gaucher disease research and explore the relationship between GBA1 and parkinsonism.

神经变性领域一个令人兴奋的进展是罕见的单基因疾病戈谢病与常见的复杂性疾病帕金森病（PD）之间的联系。戈谢病是一种溶酶体储积症，是由于遗传性葡萄糖脑苷脂酶（由 GBA1 编码）缺乏所致，该酶可水解糖磷脂葡萄糖酰胺和葡萄糖鞘氨醇。在一个罕见的戈谢病亚群体中观察到帕金森病，首次将人们的注意力引向葡萄糖脑苷脂酶缺乏症在帕金森病发病机制中的作用。帕金森病多发于戈谢病 GBA1 基因突变的杂合子患者，3-25% 的帕金森病患者携带 GBA1 基因变异。然而，只有一小部分 GBA1 变体携带者会患上帕金森病，这表明帕金森病的发病率很低。尽管在这一领域进行了十多年的深入研究，包括临床和放射学评估、遗传学研究和使用模型系统的调查，但 GBA1-PD 的内在机制仍在研究之中。从这一关联中获得的启示强调了溶酶体通路在帕金森病中的作用。此外，针对戈谢病考虑或开发的不同治疗策略现在可以为帕金森病的药物开发提供参考。

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Single-cell atlas of Alzheimer disease vulnerability 阿尔茨海默病易感性单细胞图谱

IF 28.2 1区医学 Q1 CLINICAL NEUROLOGY

Nature Reviews Neurology

Pub Date : 2024-08-06 DOI: 10.1038/s41582-024-01008-z

Lisa Kiani

引用次数: 0

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