Neuroimmunology Reports最新文献

{"title":"Comparison of visual outcomes in patients with aquaporin 4 immunoglobulin g-positive, myelin oligodendrocyte glycoprotein immunoglobulin g-positive, and double seronegative optic neuritis following severe optic neuritis","authors":"Rawipreeya Laosirirat,&nbsp;Metha Apiwattanakul,&nbsp;Saharat Aungsumart","doi":"10.1016/j.nerep.2025.100260","DOIUrl":"10.1016/j.nerep.2025.100260","url":null,"abstract":"<div><h3>Background</h3><div>Data regarding idiopathic autoimmune-mediated optic neuritis is limited to visual acuity at specific time points post-treatment, lacking longitudinal comparisons. This study compared visual outcomes in patients with severe visual impairment due to optic neuritis who were aquaporin-4 (AQP4) immunoglobulin G (IgG)-positive, myelin oligodendrocyte glycoprotein (MOG)-IgG-positive, or double seronegative.</div></div><div><h3>Methods</h3><div>This retrospective longitudinal study was conducted at the Neurological Institute of Thailand, examining visual outcomes among three patient groups presenting with severe visual impairment—defined as best corrected visual acuity (BCVA) of 20/200 or worse—between June 2020 and May 2023. Visual outcomes were assessed with the “time to good visual recovery”—defined as ≥66.77 % improvement in BCVA from post-attack to baseline—and “complete visual recovery”—defined as BCVA returning to baseline.</div></div><div><h3>Results</h3><div>This study included 45 affected eyes of 30 patients, grouped as AQP4-IgG-positive (<em>n</em> = 10), MOG-IgG-positive (<em>n</em> = 5), and double seronegative (<em>n</em> = 30). Median BCVA at onset was 1.7 (logMAR). Using MOG-IgG as a comparator, the hazard ratios for complete visual recovery in the AQP4-IgG-positive and double seronegative groups were 0.158 (<em>p</em> = 0.135) and 0.421 (<em>p</em> = 0.288), respectively. For good visual recovery, the AQP4-IgG-positive and double seronegative subtypes had hazard ratios of 0.187 (<em>p</em> = 0.013) and 0.189 (<em>p</em> = 0.005), respectively, compared with the MOG-IgG-positive subtype. Furthermore, all MOG-IgG-positive cases achieved good visual recovery, in contrast to fewer than 50 % of the AQP4-IgG-positive and double seronegative subtypes.</div></div><div><h3>Conclusion</h3><div>The MOG-IgG-positive subtype exhibited the best visual prognosis and the shortest recovery time compared to the AQP4-IgG-positive and double seronegative subtypes.</div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100260"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erratum to “Transverse myelitis 48 hours after the administration of an mRNA COVID 19 vaccine” [Neuroimmunology Reports Volume 1, December 2021, 100019]","authors":"Patrick McLean,&nbsp;Lori Trefts","doi":"10.1016/j.nerep.2024.100240","DOIUrl":"10.1016/j.nerep.2024.100240","url":null,"abstract":"","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100240"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Linker for activation of T cells (LAT) mutation leading to CNS neuroimmunological disorder with treatment response to abatacept","authors":"Ladan Bigdeli ,&nbsp;Jesus R Salas ,&nbsp;Aaren E. Kettelhut ,&nbsp;Mohammad Shujaat ,&nbsp;Cole A Harrington","doi":"10.1016/j.nerep.2025.100251","DOIUrl":"10.1016/j.nerep.2025.100251","url":null,"abstract":"<div><h3>Background</h3><div>Linker for activation of T cells (LAT) is a scaffolding protein that couples T-cell receptors (TCRs) to downstream signaling pathways and plays a critical role in TCR-mediated signaling and thymocyte development. LAT loss-of-function mutations have been reported in severe combined immunodeficiencies (SCID). Mutations in the <em>LAT</em> gene resulting in central nervous system (CNS) disorders have not previously been reported.</div></div><div><h3>Case presentation</h3><div>We report a case of a unique and recurrent neuroinflammatory disorder in a patient with a LAT gene mutation and a prior history of immune deficiency and autoimmunity.</div></div><div><h3>Case report</h3><div>Patient with <em>LAT</em> heterozygous missense mutation presented with a CNS demyelinating inflammatory disorder with similar clinical, pathological and radiographic features to patients with heterozygous mutations in immune checkpoint inhibitor cytotoxic T-lymphocyte associated protein 4 (<em>CTLA4</em>). CNS inflammatory disorder improved with treatment with CTLA4-IgG₁ fusion protein abatacept. This is the first reported case of CNS inflammation associated with a <em>LAT</em> gene mutation.</div></div><div><h3>Conclusions</h3><div><em>LAT</em> and <em>CTLA4</em> mutations appear to result in overlapping phenotypes and patients with mutations in <em>LAT</em> or proteins involved in LAT signaling may exhibit similar presentations and responses to immune checkpoint inhibitors.</div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100251"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143350464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erratum to “Post-COVID-19 acute disseminated encephalomyelitis: Case report and review of the literature” [Neuroimmunology Reports Volume 2, 2022, 100066]","authors":"Masoud Etemadifar ,&nbsp;Amir Reza Mansouri ,&nbsp;Hosein Nouri ,&nbsp;Nahad Sedaghat ,&nbsp;Mehri Salari ,&nbsp;Milad Maghsoudi ,&nbsp;Narges Heydari","doi":"10.1016/j.nerep.2024.100245","DOIUrl":"10.1016/j.nerep.2024.100245","url":null,"abstract":"","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100245"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erratum to “Psychiatric manifestations of anti-MOG antibody disease” [Neuroimmunology Reports Volume 2, 2022, 100073]","authors":"Baljinder Singh,&nbsp;Salvador Cruz-Flores,&nbsp;Mohammad R Chaudhry,&nbsp;Paisith Piriyawat,&nbsp;Claudia Prospero Ponce","doi":"10.1016/j.nerep.2024.100241","DOIUrl":"10.1016/j.nerep.2024.100241","url":null,"abstract":"","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100241"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143104685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"IgG4-related hypophysitis and AVP-deficiency: A unique presentation and literature review","authors":"Maxime Braun ,&nbsp;Abhishek Gupta ,&nbsp;Sydney Taylor ,&nbsp;Hamza Coban ,&nbsp;Narinder Maheshwari ,&nbsp;Eric Mortensen","doi":"10.1016/j.nerep.2025.100253","DOIUrl":"10.1016/j.nerep.2025.100253","url":null,"abstract":"<div><h3>Background</h3><div>Immunoglobulin G4-related disease (IgG4-RD) is an autoimmune condition in which IgG4-positive plasma cells locally or systemically infiltrate tissues and cause damage through inflammation and fibrosis. While IgG4-RD has been reported in nearly every organ, it preferentially manifests as retroperitoneal fibrosis, Mikulicz disease of the salivary glands, and autoimmune pancreatitis. Involvement of the pituitary gland, causing IgG4-related hypophysitis (IgG4-RH), is an infrequently encountered manifestation of the disease.</div></div><div><h3>Case presentation</h3><div>In this case, a 56-year-old female who presents for positional dizziness is ultimately found to have IgG4-RH. The patient developed symptoms of polydipsia and polyuria along with diffuse headaches within a month of her initial presentation. Serum and urine studies were suggestive of diabetes insipidus (DI). She improved on desmopressin (DDAVP) therapy suggesting AVP-deficiency (AVP-D). Her prolactin was found to be elevated, and brain MRI revealed diffuse thickening of the pituitary stalk with enhancement. Additional workup for systemic disease with CT, lumbar puncture, and PET scan was unremarkable. Autoimmune workup showed elevated ANA and serum IgG4, and a course of high-dose IV steroids was initiated for suspected IgG4-RH. She experienced significant clinical improvement of dizziness, polyuria, polydipsia, which enhanced her sleep quality. Despite therapy, her brain MRI remains unchanged, prolactin levels remain elevated, and she continues DDAVP therapy for persisting DI.</div></div><div><h3>Discussion</h3><div>The clinical manifestations of IgG4-RH are variable, contributing to the difficulty in diagnosis of this disease. Clinical presentations of IgG4-RH include diabetes insipidus (DI), anterior hypopituitarism, or visual disturbances due to mass effect of the pituitary. Definitive diagnosis requires histopathologic evaluation of the pituitary via biopsy, manifesting a high proportion of IgG4-positive cells. Non-invasive diagnostic methods, such as the Leporati criteria, are widely accepted and were utilized for the diagnosis of this patient. These criteria included MRI findings, elevated serum IgG4, and clinical response to steroids. The current cornerstone of treatment is glucocorticoids and targeted hormone replacement with or without the use of immunomodulators. However, there is limited follow-up of patients with insufficient data on treatment response and remission.</div></div><div><h3>Conclusions</h3><div>IgG4-RD can have many manifestations including as it presented in this case. Improving awareness and diagnostic tools for this disease is important for swift identification and management. Treatment options are limited to glucocorticoids and targeted hormone replacement with few data on immunomodulators. This case illustrates the need for further investigation into treatment outcomes and prognosis of this disease, and development of more targ","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100253"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143816829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Stiff limb syndrome, first case report in Palestine","authors":"Mustafa Hammad ,&nbsp;Wasef Alhroub ,&nbsp;Alhareth Amro ,&nbsp;Rama Rije ,&nbsp;Mohammad Abu Saif ,&nbsp;Mohammad Abo-Ghosh","doi":"10.1016/j.nerep.2025.100259","DOIUrl":"10.1016/j.nerep.2025.100259","url":null,"abstract":"<div><h3>Background</h3><div>Stiff person syndrome (SPS) is a rare autoimmune neurological disorder characterized by progressive muscle rigidity and spasms. Stiff limb syndrome (SLS) is a rare, more localized variant of SPS.</div></div><div><h3>Case presentation</h3><div>This case report describes a 52-year-old woman who presented with a 2-year history of slowly progressive right leg stiffness causing severe spasms and difficulty in walking. Neurological examination showed severe spasticity of the right leg, increased deep tendon reflexes in all extremities, worse on the right leg and inability to stand due to the severity of the pain and spasticity of the right leg. Laboratory findings revealed elevated glutamic acid decarboxylase (GAD) antibodies, and positive pancreatic islet cells antibodies (ICA)<em>.</em> Electromyography demonstrated continuous motor unit activity, that improved after administration of a benzodiazepine. The patient was treated with a benzodiazepine, which led to significant improvement in her symptoms.</div></div><div><h3>Discussion</h3><div>This article documented the first reported case of SLS in Palestine, highlighting the importance of early recognition and appropriate treatment of SLS to minimize functional impairment in patients. Detailed clinical features, laboratory findings, and the patient's response to therapy are discussed to emphasize the diagnostic challenges and management strategies for this rare neurological condition<strong>.</strong></div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100259"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143942949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exercise induced oscillatory ventilation without cardiac failure in a young woman with relapsing remitting multiple sclerosis: A case report","authors":"K. Musch ,&nbsp;S.T. Timmermans ,&nbsp;J.G. van den Aardweg","doi":"10.1016/j.nerep.2025.100246","DOIUrl":"10.1016/j.nerep.2025.100246","url":null,"abstract":"<div><div>Exercise oscillatory ventilation (EOV), which occurs mainly in heart failure patients, is associated with poor prognosis. There is limited information on EOV in other populations. Here we present a case study of a young woman with relapsing-remitting multiple sclerosis who was referred for cardiopulmonary exercise testing (CPET). There were no indications of cardiac problems during the medical screening. However, during CPET, EOV was observed. Additional diagnostic tests showed no cardiovascular anomalies. After a training period, CPET was repeated and EOV had disappeared, showing that EOV can occur during exercise in patients without cardiac abnormalities and that improving the general fitness may reverse this breathing pattern.</div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100246"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erratum to “Rapidly progressive dementia with recurrent seizures and hyponatremia; A case of LGI1 limbic encephalitis” [Neuroimmunology Reports Volume 2, 2022, 100048]","authors":"Joshua D Luster ,&nbsp;Ashley Barasa ,&nbsp;William Hoffman","doi":"10.1016/j.nerep.2024.100242","DOIUrl":"10.1016/j.nerep.2024.100242","url":null,"abstract":"","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100242"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of neuromyelitis optica-associated rhombodiencephalic encephalitis","authors":"Sonya Besagar ,&nbsp;Shailee Shah ,&nbsp;John B. Bond","doi":"10.1016/j.nerep.2025.100252","DOIUrl":"10.1016/j.nerep.2025.100252","url":null,"abstract":"<div><h3>Background</h3><div>Neuromyelitis optica spectrum disorder (NMOSD) classically presents with the triad of optic neuritis, transverse myelitis, and area postrema syndrome, while brainstem encephalitis and diencephalon involvement are rare but recognized manifestations of the disease.</div></div><div><h3>Case presentation</h3><div>A 59-year-old female with type 1 diabetes mellitus presented to the comprehensive ophthalmology clinic with acute headache and oblique diplopia, and later that week developed confusion and hypersomnolence. MRI brain with contrast demonstrated prominent T2 hyperintensity in the dorsal midbrain and brainstem, and the patient was ultimately found to be positive for Aquaporin-4 antibodies and diagnosed with NMOSD.</div></div><div><h3>Case report</h3><div>Very few reports exist of bilateral ptosis secondary to NMOSD, and this case also represents a novel presentation of cranial nerve III nuclear involvement. Thus, this case offers a unique diagnostic challenge due to the uncommon presentation of the disease.</div></div><div><h3>Conclusions</h3><div>Diplopia and ptosis in conjunction with somnolence, nausea, or vertigo, all signs of diencephalon involvement, should prompt consideration of the diagnosis of NMOSD.</div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100252"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143594046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}