Neuroimmunology Reports最新文献

{"title":"MS developing after NMDAR encephalitis: A Portuguese case report and literature review","authors":"Ana Rita Castro ,&nbsp;Daniela Oliveira ,&nbsp;Bárbara Teixeira ,&nbsp;João Macedo Cunha ,&nbsp;Ivânia Alves ,&nbsp;Luis Ruano","doi":"10.1016/j.nerep.2025.100256","DOIUrl":"10.1016/j.nerep.2025.100256","url":null,"abstract":"<div><div>Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune disorder characterized by IgG autoantibodies targeting the GluN1 subunit of the NMDAR. We present a case of a 20-year-old male diagnosed with NMDAR encephalitis, who two years later developed symptoms and MRI lesions suggestive of multiple sclerosis (MS).</div><div>The patient initially exhibited depressive symptoms progressing to severe neuropsychiatric manifestations including catatonia, hallucinations, and dysphagia. Positive anti-NMDAR antibodies in the CSF and serum were found, and extensive investigations, including imaging and CSF analysis, ruled out alternative diagnoses. After treatment with methylprednisolone and intravenous immunoglobulins the patient recovered completely and remained asymptomatic until presenting two years later with optic neuritis and new demyelinating MRI lesions consistent with MS. The patient had negative tests for aquaporin-4 and myelin oligodendrocyte glycoprotein antibodies, and met 2017 McDonald criteria for MS.</div><div>This case adds to the sparse literature on overlap between NMDAR encephalitis and MS, suggesting a potential link between the autoimmune processes in these disorders. Further research is warranted to elucidate the underlying mechanisms and optimize management strategies for such cases.</div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100256"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143863354","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":"Sudden onset orthostatic dysarthria as a presenting symptom of bulbar onset myasthenia gravis: a video case report","authors":"Dr. Jānis Dāvis Osipovs ,&nbsp;Dr. Eva Šankova ,&nbsp;Prof. Guntis Karelis ,&nbsp;Dr. Ziedīte Želve ,&nbsp;Dr. Elīna Polunosika ,&nbsp;Mg. sc. sal. Līga Savicka","doi":"10.1016/j.nerep.2024.100235","DOIUrl":"10.1016/j.nerep.2024.100235","url":null,"abstract":"<div><div>Myasthenia gravis (MG) is a rare autoimmune neuromuscular disorder that can present with various early clinical symptoms and signs. The diagnosis of MG with bulbar symptom onset can be clinically challenging for clinicians with limited experience with neuromuscular disorders.</div><div>This case report presents an elderly patient with an abrupt onset of orthostatic dysarthria, in whom a high level of diagnostic suspicion leads to a short period until confirmation of diagnosis. This clinical case shows symptomatic treatment initiation on the 4th day after the onset of symptoms in a patient with bulbar onset MG. Serologic confirmation of MG was received on the 11th hospitalisation day. This case report contains a short video of the evaluation of orthostatic dysarthria.</div><div>Orthostatic dysarthria is a rare presentation symptom for bulbar onset MG. Information on the evaluation of orthostatic dysarthria is sparse. Considering that bulbar onset MG can be a life-threatening condition, we would like to share our positive experience of rapid diagnosis and successful treatment.</div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100235"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143104688","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":"Longitudinally extensive transverse myelitis: Etiologies and common diagnostic pitfalls","authors":"Samar Antoine Abbas ,&nbsp;Jad Costa ,&nbsp;Joelle Saba ,&nbsp;Christian Matta ,&nbsp;Halim Abboud","doi":"10.1016/j.nerep.2025.100255","DOIUrl":"10.1016/j.nerep.2025.100255","url":null,"abstract":"<div><h3>Objectives</h3><div>report the different etiologies of Longitudinally Extensive Transverse Myelitis (LETM), along with their key characteristics.</div></div><div><h3>Methods</h3><div>A retrospective study was conducted at Hotel-Dieu de France University Hospital, Beirut, Lebanon. We collected demographic, clinical, radiologic and biochemical data of patients admitted for LETM between January 2021 and September 2024. Patients with compressive myelopathy or missing data were excluded. LETM characteristics were described in the whole sample, as well as in patients with inflammatory myelitis and those with spinal dural arteriovenous fistula (SDAVF).</div></div><div><h3>Results</h3><div>32 patients were selected, of whom 12 patients were excluded. The most common cause of LETM was SDAVF (25%), followed by MOG antibody-associated disease, multiple sclerosis, idiopathic transverse myelitis, neurosarcoidosis and infectious myelitis (10% each). There was only one case of Neuromyelitis Optica Spectrum Disorder (NMOSD). Other causes included MOG-negative acute disseminated encephalomyelitis, paraneoplastic myelitis, spinal cord neoplasm and subacute combined degeneration of spinal cord (5% each). In total, there were 13 cases of inflammatory myelitis (65%). Patients with SDAVF were predominantly males (80%) and relatively older than those with inflammatory myelitis. Different MRI patterns were described: all inflammatory LETM involved cervical and/or thoracic cord, 69% were partial and enhanced on postcontrast sequences. Vascular myelopathy affected thoracolumbar region in 80% of cases. Perimedullary flow voids were common (80%) but inconsistent.</div></div><div><h3>Conclusions</h3><div>Neurologist should think beyond NMOSD in case of LETM. The presence of thoracolumbar LETM with or without perimedullary flow voids requires MR angiography, before diagnostic lumbar puncture or empirical steroid therapy.</div></div>","PeriodicalId":100950,"journal":{"name":"Neuroimmunology Reports","volume":"7 ","pages":"Article 100255"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143738719","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":"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":"&lt;div&gt;&lt;h3&gt;Background&lt;/h3&gt;&lt;div&gt;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.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Case presentation&lt;/h3&gt;&lt;div&gt;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.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Discussion&lt;/h3&gt;&lt;div&gt;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.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusions&lt;/h3&gt;&lt;div&gt;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}