Current Opinion in Neurology最新文献

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Shifting our attention earlier in the multiple sclerosis disease course. 在多发性硬化症病程的早期转移我们的注意力。
IF 4.8 2区 医学
Current Opinion in Neurology Pub Date : 2024-06-01 Epub Date: 2024-03-28 DOI: 10.1097/WCO.0000000000001268
Samantha E Epstein, Erin E Longbrake
{"title":"Shifting our attention earlier in the multiple sclerosis disease course.","authors":"Samantha E Epstein, Erin E Longbrake","doi":"10.1097/WCO.0000000000001268","DOIUrl":"10.1097/WCO.0000000000001268","url":null,"abstract":"<p><strong>Purpose of review: </strong>Revisions of multiple sclerosis (MS) diagnostic criteria enable clinicians to diagnose patients earlier in the biologic disease course. Prompt initiation of therapy correlates with improved clinical outcomes. This has led to increased attention on the earliest stages of MS, including the MS prodrome and radiologically isolated syndrome (RIS). Here, we review current understanding and approach to patients with preclinical MS.</p><p><strong>Recent findings: </strong>MS disease biology often begins well before the onset of typical MS symptoms, and we are increasingly able to recognize preclinical and prodromal stages of MS. RIS represents the best characterized aspect of preclinical MS, and its diagnostic criteria were recently revised to better capture patients at highest risk of conversion to clinical MS. The first two randomized control trials evaluating disease modifying therapy use in RIS also found that treatment could delay or prevent onset of clinical disease.</p><p><strong>Summary: </strong>Despite progress in our understanding of the earliest stages of the MS disease course, additional research is needed to systematically identify patients with preclinical MS as well as capture those at risk for developing clinical disease. Recent data suggests that preventive immunomodulatory therapies may be beneficial for high-risk patients with RIS; though management remains controversial.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"212-219"},"PeriodicalIF":4.8,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140305157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
New knowledge on anti-IgLON5 disease. 抗 IgLON5 疾病的新知识。
IF 4.8 2区 医学
Current Opinion in Neurology Pub Date : 2024-06-01 Epub Date: 2024-04-01 DOI: 10.1097/WCO.0000000000001271
Carles Gaig, Lidia Sabater
{"title":"New knowledge on anti-IgLON5 disease.","authors":"Carles Gaig, Lidia Sabater","doi":"10.1097/WCO.0000000000001271","DOIUrl":"10.1097/WCO.0000000000001271","url":null,"abstract":"<p><strong>Purpose of review: </strong>Anti-IgLON5 disease is characterized by a distinctive sleep disorder, associated with a heterogeneous spectrum of neurological symptoms. Initial autopsies showed a novel neuronal tauopathy predominantly located in the tegmentum of the brainstem. Recently, new diagnostic red flags, biomarkers predictors of response to immunotherapy, and novel insights into the autoimmune pathogenesis of the disease have been reported.</p><p><strong>Recent findings: </strong>Patients with diagnosis of neurodegenerative dementia, progressive supranuclear palsy (PSP) or with motor-neuron disease (MND)-like syndrome have been reported to have IgLON5 antibodies, which are the hallmark of anti-IgLON5 disease. Second, low levels of neurofilament light chain in serum and cerebrospinal fluid of patients at disease onset could be a predictor of immunotherapy response. Recent neuropathological studies indicate that the neuronal tau deposits occur late in the course of the disease. Moreover, IgLON5 antibodies induce cytoskeletal changes in cultured hippocampal neurons suggesting that the tauopathy could be secondary of the IgLON5 antibody effects.</p><p><strong>Summary: </strong>Anti-IgLON5 disease can mimic and should be considered in atypical presentations of MND, neurodegenerative dementia and PSP. Neurofilament light chain levels seem promising biomarker for disease prognosis. Finally, the neuropathological and in vitro experimental studies strengthen the autoimmune hypothesis of the disease.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"316-321"},"PeriodicalIF":4.8,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11064895/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140335112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Understanding multiple sclerosis as a disease spectrum: above and below the clinical threshold. 将多发性硬化症视为一种疾病谱:高于和低于临床阈值。
IF 4.8 2区 医学
Current Opinion in Neurology Pub Date : 2024-06-01 Epub Date: 2024-04-09 DOI: 10.1097/WCO.0000000000001262
Stephen Krieger, Karin Cook, Carrie M Hersh
{"title":"Understanding multiple sclerosis as a disease spectrum: above and below the clinical threshold.","authors":"Stephen Krieger, Karin Cook, Carrie M Hersh","doi":"10.1097/WCO.0000000000001262","DOIUrl":"10.1097/WCO.0000000000001262","url":null,"abstract":"<p><strong>Purpose of review: </strong>Research in multiple sclerosis (MS) has long been predicated on clinical groupings that do not reflect the underlying biologic heterogeneity apparent within patient populations. This review explicates the various levels of explanation through which the spectrum of disease is described and investigated both above and below the clinical threshold of detection, as framed by the topographical model of MS, to help advance a cogent mechanistic framework.</p><p><strong>Recent findings: </strong>Contemporary evidence has amended the view of MS as consisting of sequential disease phases in favor of a spectrum of disease with an admixture of interdependent and dynamic pathobiological axes driving tissue injury and progression. Recent studies have shown the presence of acute and compartmentalized inflammation and mechanisms of neurodegeneration beginning early and evolving throughout the disease continuum. Still, the gap between the understanding of immunopathologic processes in MS and the tools used to measure relevant molecular, laboratory, radiologic, and clinical metrics needs attention to enable better prognostication of disease and monitoring for changes along specific pathologic axes and variable treatment outcomes.</p><p><strong>Summary: </strong>Aligning on a consistently-applied mechanistic framework at distinct levels of explanation will enable greater precision across bench and clinical research, and inform discourse on drivers of disability progression and delivery of care for individuals with MS.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"189-201"},"PeriodicalIF":4.8,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11064902/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140293122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Posttraumatic headache is a distinct headache type from migraine. 创伤后头痛是一种不同于偏头痛的头痛类型。
IF 4.8 2区 医学
Current Opinion in Neurology Pub Date : 2024-06-01 Epub Date: 2024-01-31 DOI: 10.1097/WCO.0000000000001247
Keiko Ihara, Todd J Schwedt
{"title":"Posttraumatic headache is a distinct headache type from migraine.","authors":"Keiko Ihara, Todd J Schwedt","doi":"10.1097/WCO.0000000000001247","DOIUrl":"10.1097/WCO.0000000000001247","url":null,"abstract":"<p><strong>Purpose of review: </strong>Posttraumatic headache (PTH), a headache that develops within 7 days of a causative injury, is one of the most common secondary headaches, mostly attributed to mild traumatic brain injury (mTBI). Because presence of preinjury headache is a risk factor for developing PTH and PTH symptoms often resemble migraine or tension-type headache, the association between PTH and primary headaches has attracted attention from clinicians and scientists.</p><p><strong>Recent findings: </strong>Recent studies on epidemiological aspects, headache features, risk factors, imaging characteristics, and response to treatment, suggest overlapping features and distinct objective findings in PTH compared to migraine.</p><p><strong>Summary: </strong>We argue that PTH is distinct from migraine. Therefore, PTH epidemiology, pathophysiology, diagnosis, treatment, and prognosis should continue to be investigated separately from migraine.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"264-270"},"PeriodicalIF":4.8,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139641751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Central nervous system adverse events of immune checkpoint inhibitors. 免疫检查点抑制剂的中枢神经系统不良事件。
IF 4.8 2区 医学
Current Opinion in Neurology Pub Date : 2024-06-01 Epub Date: 2024-03-14 DOI: 10.1097/WCO.0000000000001259
Antonio Farina, Macarena Villagrán-García, Alberto Vogrig, Bastien Joubert
{"title":"Central nervous system adverse events of immune checkpoint inhibitors.","authors":"Antonio Farina, Macarena Villagrán-García, Alberto Vogrig, Bastien Joubert","doi":"10.1097/WCO.0000000000001259","DOIUrl":"10.1097/WCO.0000000000001259","url":null,"abstract":"<p><strong>Purpose of review: </strong>Immune checkpoint inhibitors (ICI) may trigger immune-related adverse events which rarely affect the central nervous system (CNS-irAEs). Over the past few years, cumulative data have led to the characterization of well defined syndromes with distinct cancer and antibody associations as well as different outcomes.</p><p><strong>Recent findings: </strong>The most frequent CNS-irAE is encephalitis, which includes three main groups: meningoencephalitis, a nonfocal syndrome usually responsive to corticosteroids; limbic encephalitis, associated with high-risk paraneoplastic neurological syndromes (PNS) antibodies (e.g. anti-Hu, anti-Ma2) and neuroendocrine cancers, characterized by poor treatment response and outcomes; and cerebellar ataxia, with variable outcomes (worse when high-risk PNS antibodies are detected). Additionally, a diffuse encephalopathy without inflammatory findings, with poor response to corticosteroids and high mortality has been described. The spectrum of CNS-irAEs also includes meningitis, myelitis, and rarer presentations. A subset of CNS-irAEs (i.e. limbic encephalitis and/or rapidly progressive cerebellar ataxia) is undistinguishable from ICI-naïve PNS.</p><p><strong>Summary: </strong>The clinical and outcomes diversity of CNS-irAEs suggests different pathogenic mechanisms, which need to be understood to establish more effective and specific treatment modalities. It is crucial to identify biomarkers able to predict which patients will experience severe CNS-irAEs, to anticipate their diagnosis, and to predict long-term outcomes.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"345-352"},"PeriodicalIF":4.8,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140119034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Clinical characteristics of patients with myelin oligodendrocyte glycoprotein antibodies. 髓鞘少突胶质细胞糖蛋白抗体患者的临床特征。
IF 4.8 2区 医学
Current Opinion in Neurology Pub Date : 2024-06-01 Epub Date: 2024-03-18 DOI: 10.1097/WCO.0000000000001265
Elisabeth Maillart, Kumaran Deiva, Romain Marignier
{"title":"Clinical characteristics of patients with myelin oligodendrocyte glycoprotein antibodies.","authors":"Elisabeth Maillart, Kumaran Deiva, Romain Marignier","doi":"10.1097/WCO.0000000000001265","DOIUrl":"10.1097/WCO.0000000000001265","url":null,"abstract":"<p><strong>Purpose of review: </strong>The clinical landscape associated to myelin oligodendrocyte glycoprotein antibodies (MOG-Ab) has undergone a remarkable transformation over the past two decades, primarily driven by advancements in antibody detection techniques that have enhanced both the specificity and sensitivity of assays, enabling the identification of novel clinical phenotypes.</p><p><strong>Recent findings: </strong>Recent pivotal research publications, comprehensive reviews from established research groups, and most notably the first proposed international criteria for MOG-Ab associated disease (MOGAD) have substantially enriched our understanding of the clinical features associated with MOG-Ab. This review presents a comprehensive overview of the clinical characteristics of patients with MOG-Ab, systematically examining each core clinical syndrome defined by the proposed international MOGAD criteria. We incorporated recent insights and discussed potential challenges in applying these criteria across diverse clinical scenarios.</p><p><strong>Summary: </strong>The proposed international MOGAD criteria provide a comprehensive, homogeneous, and specific framework for characterizing the clinical features of patients with MOG-Ab, encompassing both paediatric and adult populations. In the future, the widespread adoption of specific and reliable assays for MOG-Ab detection, complemented by the development of surrogate fluid and imaging markers, holds promise for better characterizing atypical presentations, only-cerebrospinal fluid positivity and the MOGAD \"seronegative\" situations.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"338-344"},"PeriodicalIF":4.8,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140142944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Visual snow syndrome: recent advances in understanding the pathophysiology and potential treatment approaches. 视觉雪综合症:了解病理生理学和潜在治疗方法的最新进展。
IF 4.1 2区 医学
Current Opinion in Neurology Pub Date : 2024-06-01 Epub Date: 2024-03-11 DOI: 10.1097/WCO.0000000000001258
Sarah A Aeschlimann, Antonia Klein, Christoph J Schankin
{"title":"Visual snow syndrome: recent advances in understanding the pathophysiology and potential treatment approaches.","authors":"Sarah A Aeschlimann, Antonia Klein, Christoph J Schankin","doi":"10.1097/WCO.0000000000001258","DOIUrl":"10.1097/WCO.0000000000001258","url":null,"abstract":"<p><strong>Purpose of review: </strong>Visual snow syndrome (VSS) is a disorder characterized by persistent visual disturbances, including the visual snow phenomenon, palinopsia, heightened perception of entoptic phenomena, impaired night vision, and photophobia. The purpose of this review is to provide an update on recent findings over the past 18 months in VSS research and to summarize the current state of treatment approaches.</p><p><strong>Recent findings: </strong>Electrophysiological studies have revealed cortical hyperresponsivity in visual brain areas, imaging studies demonstrated microstructural and functional connectivity alterations in multiple cortical and thalamic regions and investigated glutamatergic and serotoninergic neurotransmission. These findings suggest that VSS might be a network disorder.Only few treatment studies are currently available demonstrating limited response to medication and even worsening or triggering of visual symptoms by certain antidepressants. Promising nonpharmacological treatments include mindfulness-based cognitive therapy, the use of chromatic filters, and research on visual noise adaption and neuro-optometric visual rehabilitation therapy (NORT). However, the level of evidence is still low and further research is needed including larger trials and involving objective measures of individual dysfunction.</p><p><strong>Summary: </strong>Although there has been recent progress, we still have not fully understood the nature of VSS. Further research is needed on a clinical and pathophysiological level to successfully treat the condition.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"283-288"},"PeriodicalIF":4.1,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11064904/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140093610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Targeting Epstein-Barr virus in multiple sclerosis: when and how? 在多发性硬化症中靶向 Epstein-Barr 病毒:何时以及如何?
IF 4.8 2区 医学
Current Opinion in Neurology Pub Date : 2024-06-01 Epub Date: 2024-03-21 DOI: 10.1097/WCO.0000000000001266
Gavin Giovannoni
{"title":"Targeting Epstein-Barr virus in multiple sclerosis: when and how?","authors":"Gavin Giovannoni","doi":"10.1097/WCO.0000000000001266","DOIUrl":"10.1097/WCO.0000000000001266","url":null,"abstract":"<p><strong>Purpose of review: </strong>Epidemiological evidence implicates Epstein-Barr virus (EBV) as the cause of multiple sclerosis (MS). However, its biological role in the pathogenesis of MS is uncertain. The article provides an overview of the role of EBV in the pathogenesis of MS and makes a case for targeting EBV as a treatment strategy for MS.</p><p><strong>Recent findings: </strong>EBV potentially triggers autoimmunity via molecular mimicry or immune dysregulation. Another hypothesis, supported by immunological and virological data, indicates that active EBV infection via latent-lytic infection cycling within the central nervous system or periphery drives MS disease activity. This supports testing small molecule anti-EBV agents targeting both latent and lytic infection, central nervous system-penetrant B-cell therapies and EBV-targeted immunotherapies in MS. Immunotherapies may include EBV-specific cytotoxic or chimeric antigen receptors T-cells, therapeutic EBV vaccines and immune reconstitution therapies to boost endogenous EBV-targeted cytotoxic T-cell responses.</p><p><strong>Summary: </strong>EBV is the probable cause of MS and is likely to be driving MS disease activity via latent-lytic infection cycling. There is evidence that all licensed MS disease-modifying therapies target EBV, and there is a compelling case for testing other anti-EBV strategies as potential treatments for MS.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"228-236"},"PeriodicalIF":4.8,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140174103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
The state of art on the use of patient reported outcomes in migraine. 偏头痛患者报告结果的使用现状。
IF 4.1 2区 医学
Current Opinion in Neurology Pub Date : 2024-06-01 Epub Date: 2024-03-26 DOI: 10.1097/WCO.0000000000001267
Alicia Alpuente, Marta Torres-Ferrus, Edoardo Caronna, Patricia Pozo-Rosich
{"title":"The state of art on the use of patient reported outcomes in migraine.","authors":"Alicia Alpuente, Marta Torres-Ferrus, Edoardo Caronna, Patricia Pozo-Rosich","doi":"10.1097/WCO.0000000000001267","DOIUrl":"10.1097/WCO.0000000000001267","url":null,"abstract":"<p><strong>Purpose of review: </strong>This review aims to explore the use of patient-reported outcome measures (PROMs) in migraine. Traditionally assessed through specific features, recent adoption of PROMs allows for a more objective and quantifiable evaluation. PROMs, which are standardized questionnaires collecting health information directly from a patients' perspective, cover various aspects, including migraine specific aspects. The review focuses on delineating the applications and interpretation of commonly used PROMs in migraine research, with an emphasis on their integration in clinical care.</p><p><strong>Recent findings: </strong>Generic and migraine-specific PROMs play a crucial role in clinical research, particularly in assessing health-related quality of life, disability, impact, and associated comorbidities. Some of these measures are strongly recommended to be used by the International Guidelines and are, in fact, mandated by the FDA for product labeling. Recently, there has been an expansion in the use of PROMs to assess migraine in diverse populations, in particular pediatric patients. However, the application of these measures in clinical care shows considerable heterogeneity, and some have not been validated specifically for migraine. The existing multitude of PROMs, coupled with ongoing development of new ones to better capture patient concerns, creates complexity in their research and clinical application. To address these challenges, it becomes imperative to streamline their use, focusing on those that are more validated and better aligned with the patients' perspective including different populations' needs.</p><p><strong>Summary: </strong>The utilization of PROMs in evaluating migraine enables a more holistic assessment, helps quantify the impact of the disease facilitating change measurement, improves communication between healthcare providers and patients and, guides treatment decisions for improved outcomes. However, the increasing number of PROMs questionnaires, underscores the importance of validating these tools for migraine and, the dynamic nature of the disease makes it relevant to decide with whom, why and when these should be used.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"271-282"},"PeriodicalIF":4.1,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140287158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Genetic predisposition to autoimmune encephalitis and paraneoplastic neurological syndromes. 自身免疫性脑炎和副肿瘤性神经综合征的遗传易感性。
IF 4.1 2区 医学
Current Opinion in Neurology Pub Date : 2024-06-01 Epub Date: 2024-03-14 DOI: 10.1097/WCO.0000000000001263
Sergio Muñiz-Castrillo, Jérôme Honnorat
{"title":"Genetic predisposition to autoimmune encephalitis and paraneoplastic neurological syndromes.","authors":"Sergio Muñiz-Castrillo, Jérôme Honnorat","doi":"10.1097/WCO.0000000000001263","DOIUrl":"10.1097/WCO.0000000000001263","url":null,"abstract":"<p><strong>Purpose of review: </strong>We summarize the recent discoveries on genetic predisposition to autoimmune encephalitis and paraneoplastic neurological syndromes (PNS), emphasizing clinical and pathophysiological implications.</p><p><strong>Recent findings: </strong>The human leukocyte antigen (HLA) is the most studied genetic factor in autoimmune encephalitis and PNS. The HLA haplotype 8.1, which is widely known to be related to systemic autoimmunity, has been only weakly associated with a few types of autoimmune encephalitis and PNS. However, the strongest and most specific associations have been reported in a subgroup of autoimmune encephalitis that comprises antileucine-rich glioma-inactivated 1 (LGI1) limbic encephalitis, associated with DRB1∗07 : 01 , anticontactin-associated protein-like 2 (CASPR2) limbic encephalitis, associated with DRB1∗11 : 01 , and anti-IgLON5 disease, associated with DRB1∗10 : 01∼DQA1∗01∼DQB1∗05 . Non-HLA genes have been poorly investigated so far in autoimmune encephalitis, mainly in those lacking HLA associations such as anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, with only a few genome-wide association studies (GWAS) reporting equivocal results principally limited by small sample size.</p><p><strong>Summary: </strong>Genetic predisposition seems to be driven mostly by HLA in a group of autoimmune encephalitis characterized by being nonparaneoplastic and having predominantly IgG4 autoantibodies. The contribution of non-HLA genes, especially in those diseases lacking known or strong HLA associations, will require large cohorts enabling GWAS to be powerful enough to render meaningful results.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"329-337"},"PeriodicalIF":4.1,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140119035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
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