Frequency and Phenotype of Aquaporin-4-IgG and Coexistent Autoimmune Encephalitis Antibody Biomarkers
Year: 2024
Type: article
Study design: Observational Study
Abstract: ObjectiveAims of this study were 1) to evaluate which autoimmune encephalitis autoantibodies can co-exist in patients with aquaporin-4-IgG (AQP4-IgG) and 2) what is the clinical phenotype of patients with AQP4-IgG+ and autoimmune encephalitis autoantibodies. BackgroundNeuromyelitis optica spectrum disorder (NMOSD) typically presents with optic neuritis, myelitis, or brainstem attacks. Rarely, patients can experience encephalopathy. NMOSD patients often have co-existent systemic autoimmunity. Design/MethodsTo ensure homogeneity in tests, the frequency of AQP4-IgG and autoimmune encephalitis antibodies association was evaluated on patients with AQP4-IgG+ tested for autoimmune encephalitis antibodies (2018- 2022). Then, we interrogated the Neuroimmunology laboratory database for AQP4-IgG+ patients (2007 to 2022, n=6,645) and identified patients with coexistent NMDA-R-IgG or GFAP-IgG. Clinical and radiological features of these patients were then compared to those of a control group of AQP4-IgG+ NMOSD from the clinical database. ResultsCoexistent neuronal/glial-IgGs were found in 1/128 (0.7%) sera and 21/126 (17%) cerebrospinal fluid tested. NMDA-R-IgG was the most frequent antibody detected in children (6/8 [80%], GFAP-IgG was the most common in adults (9/13 [69%]). We identified 21 AQP4-IgG+ with coexistent neuronal or glial antibodies and clinico-radiological data (9 isolated NMDA-R-IgG, 9 NMDA-R-IgG/GFAP-IgG, 2 isolated GFAP-IgG, and 1 NMDA-R-IgG/MOG-IgG). Compared to 311 AQP4-IgG+NMOSD in the clinical database, those with coexistent neuronal/glial antibodies had a higher frequency of encephalopathy, ovarian tumors, temporal lobe, basal ganglia and diencephalic involvement (all p<0.001). ConclusionsAQP4-IgG can rarely coexist with autoimmune encephalitis autoantibodies, especially with NMDA-R-IgG and GFAP-IgG. These patients usually have features of autoimmune encephalitis, and several had ovarian teratoma.
Source: Neurology
Authors: Laura Cacciaguerra, Binxia Yang, Shruti Agnihotri, Nusrat Ahsan, Karen Fernandez, Erin McLeod, William Meador, Wendy Mitchell, Jacqueline Nicholas, Amy Quek, Thomas Shoemaker, Kurt Sieloff, Vanessa Sui, Emmanuelle Waubant, Anastasia Zekeridou, Eoin Flanagan, Andrew McKeon, Sean Pittock, Amy Kunchok
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
Funder: U.S. Department of Defense
OpenAlex ID: W4403206474