Journal of neuroimmunology最新文献

{"title":"Evaluating the effect of dimethyl fumarate on subclinical biomarkers in a real-world patient cohort","authors":"Stephen Krieger ,&nbsp;Myassar Zarif ,&nbsp;Barbara Bumstead ,&nbsp;Marijean Buhse ,&nbsp;Olivia Kaczmarek ,&nbsp;Jared Srinivasan ,&nbsp;Nuno Barros ,&nbsp;Diana Sima ,&nbsp;Annemie Ribbens ,&nbsp;Wim Van Hecke ,&nbsp;James B. Lewin ,&nbsp;Jason P. Mendoza ,&nbsp;Mark Gudesblatt","doi":"10.1016/j.jneuroim.2024.578397","DOIUrl":"10.1016/j.jneuroim.2024.578397","url":null,"abstract":"<div><h3>Objective</h3><p>Evaluate the real-world effect of dimethyl fumarate (DMF) on subclinical biomarkers in patients with relapsing-remitting multiple sclerosis (RRMS) and compare with results from clinical trials.</p></div><div><h3>Methods</h3><p>Magnetic resonance imaging (MRI) data from 102 RRMS patients were retrospectively collected and processed using icobrain to assess brain atrophy and to assist semi-manual lesion count.</p></div><div><h3>Results</h3><p>Mean (±SD) annualized percent brain volume change in the first 3 years after DMF-initiation were: −0.33 ± 0.68, −0.10 ± 0.60, and − 0.35 ± 0.71%/year, respectively. No new FLAIR lesions were detected in 73.7%, 77.3%, and 73.3% of the patients during years 1, 2, and 3.</p></div><div><h3>Conclusions</h3><p>Results of this real-world study were consistent with previous DMF phase III clinical trials, supporting the generalizability of the effects observed in clinical trials to the real-world clinical setting.</p></div>","PeriodicalId":16671,"journal":{"name":"Journal of neuroimmunology","volume":"393 ","pages":"Article 578397"},"PeriodicalIF":2.9,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141498311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical characteristics, immunological alteration and distinction of MOG-IgG-associated disorders and GFAP-IgG-associated disorders","authors":"Rongrong Zeng ,&nbsp;Lu He ,&nbsp;Zhuo Kuang ,&nbsp;Yiemin Jian ,&nbsp;Meijuan Qiu ,&nbsp;Yuting Liu ,&nbsp;Mengdie Hu ,&nbsp;Yizhi Ye ,&nbsp;Liwen Wu","doi":"10.1016/j.jneuroim.2024.578398","DOIUrl":"10.1016/j.jneuroim.2024.578398","url":null,"abstract":"<div><p>The classification of autoimmune encephalitis (AE) is based on the presence of different types of antibodies. Currently, the clinical manifestations and treatment regimens of patients with all types of AE exhibit similarities. However, the presence of immunological distinctions among different types of AE remains uncertain. In this study, we prospectively collected clinical data, as well as blood and cerebrospinal fluid (CSF) samples from patients diagnosed with MOG antibody-associated disease (MOGAD) or GFAP astrocytopathy (GFAP-A), in order to assess changes in inflammatory biomarkers such as immunoglobulin oligoclonal bands, cytokines in serum and CSF, as well as peripheral blood lymphocyte subtypes within different subsets. To further distinguish the immune response in patients with MOGAD and GFAP-A from that of healthy individuals, we prospectively recruited 20 hospitalized patients diagnosed with AE. Among them, 15 (75%) tested positive for MOG antibodies, 4 (20%) tested positive for GFAP antibodies, and 1 (5%) tested positive for both MOG and GFAP antibodies. These patients were then followed up for a period of 18 months. Compared to healthy controls (HC), AE patients exhibited elevated levels of MIP-1beta, SDF-1alpha, IL-12p70, IL-5, IL-1RA, IL-8 and decreased levels of IL-23, IL-31, IFN-alpha, IL-7, TNF-beta and TNF-alpha in serum. The CSF of AE patients showed increased levels of IL-1RA, IL-6 and IL-2 while decreased levels of RANTES, IL-18,IL-7,TNF-beta,TNF-alpha,RANTES,Eotaxin,and IL-9. The level of MCP-1 in the CSF of GFAP-A patients was found to be lower compared to that of MOGAD patients, while RANTES levels were higher. And the levels of IL-17A, Eotaxin, GRO-alpha, IL-8, IL-1beta, MIP-1beta were higher in the CSF of patients with epilepsy. The presence of intrathecal immune responses is also observed in patients with spinal muscular atrophy (SMA). However, no biomarker was found to be associated with disease severity in patients with AE. Among the 17 patients, recovery was observed, while 2 patients experienced persistent symptoms after an 18-month follow-up period. Additionally, within one year of onset, 8 patients had a single recurrence. Therefore, the immunological profiles of MOGAD and GFAP-A patients differ from those of normal individuals, and the alterations in cytokine levels may also exhibit a causal association with the clinical presentations, such as seizure.</p></div>","PeriodicalId":16671,"journal":{"name":"Journal of neuroimmunology","volume":"393 ","pages":"Article 578398"},"PeriodicalIF":2.9,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141603793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term cognitive outcomes in Susac syndrome: A case series","authors":"Yoav Piura ,&nbsp;Noa Bregman ,&nbsp;Gitit Kavé ,&nbsp;Arnon Karni ,&nbsp;Hadar Kolb ,&nbsp;Ifat Vigiser ,&nbsp;Gregory S. Day ,&nbsp;Sebastian Lopez-Chiriboga ,&nbsp;Tamara Shiner ,&nbsp;Keren Regev","doi":"10.1016/j.jneuroim.2024.578396","DOIUrl":"https://doi.org/10.1016/j.jneuroim.2024.578396","url":null,"abstract":"<div><p>Susac syndrome (SuS) presents with encephalopathy, visual disturbances, and hearing loss from immune-mediated microvascular occlusion. While acute SuS is well-described, long-term cognitive outcomes with current treatments are underknown. We assessed ten SuS patients treated in accordance with evidence-based guidelines using immunotherapies targeting humoral and cell-mediated pathways. Patients were followed for a median 3.6 years. Initially, cognition inversely correlated with corpus callosum lesions on MRI. All reported cognitive improvement; 5/10 patients had residual deficits in visual attention and executive function. Early, aggressive treatment was associated with good outcomes; extensive early corpus callosum lesions may identify patients at-risk of persistent cognitive deficits.</p></div>","PeriodicalId":16671,"journal":{"name":"Journal of neuroimmunology","volume":"393 ","pages":"Article 578396"},"PeriodicalIF":2.9,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141438798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Targeting VEGF-mediated blood-brain barrier disruption in advanced cerebral leukodystrophy","authors":"Ashish O. Gupta ,&nbsp;Justin W. Furcich ,&nbsp;David R. Nascene ,&nbsp;Stephan Kemp ,&nbsp;Carina J. King ,&nbsp;Erin E. Nolan ,&nbsp;Willa Durose ,&nbsp;Bradley S. Miller ,&nbsp;Paul J. Orchard ,&nbsp;Troy C. Lund","doi":"10.1016/j.jneuroim.2024.578395","DOIUrl":"10.1016/j.jneuroim.2024.578395","url":null,"abstract":"<div><p>The earliest clinical manifestation of cerebral adrenoleukodystrophy (CALD) is adrenal insufficiency (AI) characterized by elevations in ACTH and loss of cortisol. We showed high (though physiologically achievable) levels of ACTH increases endothelial permeability, increases anisotropy, and increases VEGF secretion. An ACBD1 knockout endothelial cell line had increased sensitivity to ACTH and VEGF. Inhibition of VEGF via application of anti-VEGF (bevacizumab) improved permeability. Six boys with advanced CALD were treated with bevacizumab combined with dexamethasone and ruxolitinib as immune suppressants. Most boys had decreases in gadolinium enhancement on MRI indicating improvement in endothelial function, though all boys continued to progress symptomatically.</p></div>","PeriodicalId":16671,"journal":{"name":"Journal of neuroimmunology","volume":"393 ","pages":"Article 578395"},"PeriodicalIF":3.3,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141406066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Beyond biopsy for neurosarcoidosis: A review of blood and CSF biomarkers","authors":"Elijah Lackey,&nbsp;Jeffrey Shen,&nbsp;Aditya Sharma,&nbsp;Christopher Eckstein","doi":"10.1016/j.jneuroim.2024.578394","DOIUrl":"https://doi.org/10.1016/j.jneuroim.2024.578394","url":null,"abstract":"<div><p>Neurosarcoidosis, a rare granulomatous disease, causes inflammation and damage to the central nervous system (CNS). A major diagnostic challenge in neurosarcoidosis is the absence of well-defined biomarkers. The need for biopsy to make the diagnosis can lead to delays and misdiagnosis if histopathology is inaccessible or indeterminate, highlighting the need for more accessible diagnostic indicators.</p><p>The current gold standard for a “definite” neurosarcoidosis diagnosis requires biopsy of CNS tissue revealing non-caseating granulomas. However, such biopsies are inherently invasive and carry associated procedural risks. Notably, angiotensin-converting enzyme (ACE), commonly associated with systemic sarcoidosis, is recognized as a poor biomarker for neurosarcoidosis due to its lack of accuracy in the context of CNS involvement. Furthermore, imaging in neurosarcoidosis, while widely utilized and important for narrowing the diagnosis, lacks specificity.</p><p>Decades of research have yielded molecular and immunologic biomarkers—soluble interleukin-2 receptor (IL-2R), serum amyloid A1, the CD4/CD8 ratio, neopterin, interferon-gamma (IFN-γ), and chemokine ligand 2 (CCL2)—that hold potential for improving diagnostic accuracy. However, these biomarkers are not yet established in clinical care as they may be difficult to obtain and are derived from small studies. They also suffer from a lack of specificity against other inflammatory and infectious central nervous system diseases. New biomarkers are needed for use alongside those previously discovered to improve diagnosis of this rare disease.</p><p>This review synthesizes existing literature on neurosarcoidosis biomarkers, aiming to establish a foundation for further research in this evolving field. It also consolidates information on biomarkers of systemic sarcoidosis such as IL-8 and soluble CD40L that have not yet been studied in neurosarcoidosis but hold potential as markers of CNS disease.</p></div>","PeriodicalId":16671,"journal":{"name":"Journal of neuroimmunology","volume":"393 ","pages":"Article 578394"},"PeriodicalIF":3.3,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141315398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"XMEN disease caused by the novel MAGT1 p.(Trp136*) mutation may present with neuropsychiatric symptoms","authors":"Henry Villenheimo ,&nbsp;Virpi Glumoff ,&nbsp;Sami Räsänen ,&nbsp;Airi Jartti ,&nbsp;Harri Rusanen ,&nbsp;Pirjo Åström ,&nbsp;Outi Kuismin ,&nbsp;Timo Hautala","doi":"10.1016/j.jneuroim.2024.578386","DOIUrl":"10.1016/j.jneuroim.2024.578386","url":null,"abstract":"<div><h3>Background</h3><p>X-linked MAGT1 deficiency with increased susceptibility to EBV-infection and N-linked glycosylation defect (XMEN) disease is caused by <em>MAGT1</em> loss-of-function (LOF) mutations. The disease commonly presents with respiratory symptoms. Although the central nervous system can be affected, the spectrum of neuropsychiatric symptoms is not completely understood.</p></div><div><h3>Cases</h3><p>We describe a XMEN disease family presenting with atypical neuropsychiatric symptoms. The index, a previously healthy male, developed schizophrenia. Several years later, a novel hemizygous LOF MAGT1 c.407G &gt; A, p.(Trp136X) LOF mutation and XMEN disease diagnosis was confirmed in his brother due to the burden of respiratory infections. Family screening also found the index to suffer from XMEN disease; the XMEN disease was concluded to contribute to the development of schizophrenia.</p></div><div><h3>Conclusions</h3><p>Our case description demonstrates that the spectrum of XMEN disease clinical presentations can be variable, and the condition may also present with severe neuropsychiatric consequences. While respiratory infections are common among schizophrenia patients, the possibility of inborn errors in immunity should be considered whenever an unexplained personal or family history infection susceptibility is encountered. We recommend evaluating complete family history to exclude unusual monogenic disorders associated or presenting with psychiatric manifestations.</p></div>","PeriodicalId":16671,"journal":{"name":"Journal of neuroimmunology","volume":"393 ","pages":"Article 578386"},"PeriodicalIF":3.3,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0165572824001048/pdfft?md5=3b07f1f44d382e9b75433485c418d92b&pid=1-s2.0-S0165572824001048-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141265417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spinocerebellar ataxia masquerading as multiple sclerosis, a case report","authors":"Darla Wheeler ,&nbsp;Mariam Bezih ,&nbsp;Nicholas Lannen","doi":"10.1016/j.jneuroim.2024.578385","DOIUrl":"10.1016/j.jneuroim.2024.578385","url":null,"abstract":"","PeriodicalId":16671,"journal":{"name":"Journal of neuroimmunology","volume":"393 ","pages":"Article 578385"},"PeriodicalIF":3.3,"publicationDate":"2024-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141266206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Soluble adhesion molecules: Cognitive worsening biomarkers in primary progressive multiple sclerosis?","authors":"Heather Y.F. Yong ,&nbsp;Nicholas J. Batty ,&nbsp;Isabelle Tottenham ,&nbsp;Marcus Koch ,&nbsp;Carlos R. Camara-Lemarroy","doi":"10.1016/j.jneuroim.2024.578384","DOIUrl":"10.1016/j.jneuroim.2024.578384","url":null,"abstract":"","PeriodicalId":16671,"journal":{"name":"Journal of neuroimmunology","volume":"393 ","pages":"Article 578384"},"PeriodicalIF":3.3,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141277592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurotropic murine coronavirus mediated demyelination: Factors dampening pathogenesis","authors":"Mihyun Hwang ,&nbsp;Cornelia C. Bergmann","doi":"10.1016/j.jneuroim.2024.578382","DOIUrl":"10.1016/j.jneuroim.2024.578382","url":null,"abstract":"<div><p>Virus infections and autoimmune responses are implicated as primary triggers of demyelinating diseases. Specifically, the association of Epstein-Barr virus (EBV) infection with development of multiple sclerosis (MS) has re-ignited an interest in virus induced autoimmune responses to CNS antigens. Nevertheless, demyelination may also be caused by immune mediated bystander pathology in an attempt to control direct infection in the CNS. Tissue damage as a result of anti-viral responses or low level viral persistence may lead to immune activation manifesting in demyelinating lesions, axonal damage and clinical symptoms. This review focuses on the neurotropic mouse coronavirus induced demyelination model to highlight how immune responses activated during the acute phase pave the way to dampen pathology and promote repair. We specifically discuss the role of immune dampening factors programmed cell death ligand 1 (PD-L1) and interleukin (IL)-10, as well as microglia and triggering receptor expressed on myeloid cells 2 (Trem2), in limiting demyelination independent of viral persistence.</p></div>","PeriodicalId":16671,"journal":{"name":"Journal of neuroimmunology","volume":"393 ","pages":"Article 578382"},"PeriodicalIF":3.3,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141233757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Infection, vaccination and narcolepsy type 1: Evidence and potential molecular mechanisms","authors":"","doi":"10.1016/j.jneuroim.2024.578383","DOIUrl":"10.1016/j.jneuroim.2024.578383","url":null,"abstract":"<div><p>NT1 is a rare, chronic and disabling neurological disease causing excessive daytime sleepiness and cataplexy. NT1 is characterized pathologically by an almost complete loss of neurons producing the hypocretin (HCRT)/orexin neuropeptides in the lateral hypothalamus<em>.</em> While the exact etiology of NT1 is still unknown, numerous studies have provided compelling evidence supporting its autoimmune origin. The prevailing hypothetical view on the pathogenesis of NT1 involves an immune-mediated loss of HCRT neurons that can be triggered by Pandemrix® vaccination and/or by infection in genetically susceptible patients, specifically carriers of the <em>HLA-DQB1*06:02</em> MHC class II allele. The molecular mechanisms by which infection/vaccination can induce autoimmunity in the case of NT1 remain to be elucidated. In this review, evidence regarding the involvement of vaccination and infection and the potential mechanisms by which it could be linked to the pathogenesis of NT1 will be discussed in light of the existing findings in other autoimmune diseases.</p></div>","PeriodicalId":16671,"journal":{"name":"Journal of neuroimmunology","volume":"393 ","pages":"Article 578383"},"PeriodicalIF":2.9,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141235316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}