{"title":"抗 IgLON5 疾病的新知识。","authors":"Carles Gaig, Lidia Sabater","doi":"10.1097/WCO.0000000000001271","DOIUrl":null,"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":4.1000,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11064895/pdf/","citationCount":"0","resultStr":"{\"title\":\"New knowledge on anti-IgLON5 disease.\",\"authors\":\"Carles Gaig, Lidia Sabater\",\"doi\":\"10.1097/WCO.0000000000001271\",\"DOIUrl\":null,\"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\":4.1000,\"publicationDate\":\"2024-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11064895/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current Opinion in Neurology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/WCO.0000000000001271\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/4/1 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Opinion in Neurology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/WCO.0000000000001271","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/4/1 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
摘要
综述的目的:抗 IgLON5 病的特征是一种独特的睡眠障碍,伴有多种神经系统症状。最初的尸检显示,一种新型的神经元牛磺酸病主要位于脑干的被盖部。最近,新的诊断信号、预测免疫疗法反应的生物标志物以及对该病自身免疫发病机制的新见解均有报道:据报道,被诊断为神经退行性痴呆症、进行性核上性麻痹(PSP)或运动神经元病(MND)样综合征的患者体内存在 IgLON5 抗体,这是抗 IgLON5 疾病的标志。其次,发病时患者血清和脑脊液中神经丝轻链水平较低,可作为免疫疗法反应的预测指标。最近的神经病理学研究表明,神经元 tau 沉积发生在疾病的晚期。此外,IgLON5抗体可诱导培养的海马神经元发生细胞骨架变化,这表明tau病可能是继发于IgLON5抗体效应的疾病。神经丝蛋白轻链水平似乎有望成为疾病预后的生物标志物。最后,神经病理学和体外实验研究加强了该病的自身免疫假说。
Purpose of review: 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.
Recent findings: 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.
Summary: 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.
期刊介绍:
Current Opinion in Neurology is a highly regarded journal offering insightful editorials and on-the-mark invited reviews; covering key subjects such as cerebrovascular disease, developmental disorders, neuroimaging and demyelinating diseases. Published bimonthly, each issue of Current Opinion in Neurology introduces world renowned guest editors and internationally recognized academics within the neurology field, delivering a widespread selection of expert assessments on the latest developments from the most recent literature.