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Linking Downbeat Nystagmus and Aquaporin-4-Positive Neuromyelitis Optica: A Closer Look at Their Hidden Relationship.
Cureus
October 2024
Neuro-ophthalmology, Department of Clinical Sciences, Florida State University College of Medicine, Tallahassee, USA.
Neuromyelitis optica (NMO), an autoimmune disease, typically presents with loss of vision and myelopathic signs. NMO may be associated with antibodies selective for aquaporin-4 (AQP4), a water channel located within the optic nerves and spinal cord.AQP4 is distributed in the periventricular region, corpus callosum, magnocellular nuclei of the hypothalamus, and brain stem.
View Article and Find Full Text PDFNMOSD IgG Impact Retinal Cells in Murine Retinal Explants.
Curr Issues Mol Biol
September 2023
Department of Experimental Ophthalmology, University Marburg, 35037 Marburg, Germany.
Neuromyelitis optica spectrum disorders (NMOSD) are chronic inflammatory diseases of the central nervous system, characterized by autoantibodies against aquaporin-4. The symptoms primarily involve severe optic neuritis and longitudinally extensive transverse myelitis. Although the disease progression is typically relapse-dependent, recent studies revealed retinal neuroaxonal degeneration unrelated to relapse activity, potentially due to anti-aquaporin-4-positive antibodies interacting with retinal glial cells such as Müller cells.
View Article and Find Full Text PDFCase report: Granzyme-B expression by T- and B- cells during severe AQP4-positive Neuromyelitis Optica spectrum disorder with fatal venous thromboembolism outcome.
Front Neurol
August 2023
Neuroimaging Laboratory, Department of Neurology, University of Campinas, Campinas, São Paulo, Brazil.
Background: The expression of serine protease granzyme-B (GzmB) by circulating CD8 T lymphocytes has been recently suggested as a biomarker for poor immunotherapy response and severe disability in patients with Neuromyelitis Optica spectrum disorders (NMOSD). In parallel, venous thromboembolism (VTE) has been reported mainly in NMOSD patients exhibiting transverse myelitis.
Case Presentation: Here, we describe an Aquaporin-4 positive (AQP4-positive) NMOSD patient who showed short myelitis (SM) and experienced a fatal pulmonary thromboembolism/lower extremity deep vein thrombosis during anti-CD20 treatment.
Overlap syndrome of anti-aquaporin 4 positive neuromyelitis optica spectrum disorder and primary Sjögren's syndrome: a systematic review of individual patient data.
Rheumatol Int
December 2024
Clinical Immunology and Rheumatology Unit, Department of Internal Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, Chandigarh, 160012, India.
Central nervous system (CNS) involvement can occur in primary Sjögren's syndrome (pSS) due to co-existing neuromyelitis optica spectrum disorder (NMOSD) which has a highly relapsing course requiring indefinite immunosuppression, and if not diagnosed early, damage accrual occurs over time leading to permanent disability and morbidity. In this review, we describe and outline the clinical course and outcomes of anti-aquaporin 4 (AQP4) antibody seropositive NMOSD with pSS overlap cases. To investigate the co-existence of AQP4 + NMOSD with pSS, we conducted a review of individual patient data from case reports and case series found in major databases.
View Article and Find Full Text PDFOverlap syndrome of anti-aquaporin-4 positive neuromyelitis optica spectrum disorder and systemic lupus erythematosus: A systematic review of individual patient data.
Lupus
September 2023
Clinical Immunology and Rheumatology Division, Department of Internal Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Background: Neurological involvement can occur in systemic lupus erythematosus (SLE) due to co-existing neuromyelitis optica spectrum disorder (NMOSD). The symptoms can mimic those of neuropsychiatric manifestations of SLE. Pathogenic anti-aquaporin-4 (AQP4) antibodies, commonly found in NMOSD, are responsible for the neuroinflammatory response and secondary demyelinating lesions.
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