Case Report: Overlap Syndrome of Neuromyelitis Optica Spectrum Disorder with Anti-Argonaute Antibodies

Overview

Journal Front Immunol

Specialty Allergy & Immunology

Date 2024 Jun 18

PMID 38887290

Authors

Pei Liu

Xuemei Lin

Songdi Wu

Affiliations

Soon will be listed here.

Abstract

Aquaporin-4 antibodies (AQP4-Abs) are a diagnostic marker for patients with a demyelinating disease called neuromyelitis optica spectrum disorder (NMOSD). Anti-Argonaute antibodies (AGO-Abs) present as potential biomarkers of the overlap syndrome between NMOSD and other autoimmune diseases. In this paper, we present the case of an adult woman with numbness, tingling, and burning sensations in her arms and subsequent bilateral internuclear ophthalmoplegia. Brain-cervical-thoracic magnetic resonance imaging (MRI) showed T2 hyperintensities in the dorsal brainstem and around the midbrain aqueduct and longitudinally transverse myelitis with homogeneous enhancement on gadolinium-enhanced MRI. The contemporaneous detection of AQP4- and AGO-Abs led to a definite diagnosis of overlap syndrome of NMOSD with AGO-Abs. The patient was treated with immunosuppressive agents, including corticosteroids and immunoglobulins, and achieved remission. This case highlights a novel phenotype of NMOSD with AGO-Abs overlap syndrome, which presents with relapsing brainstem syndrome and longitudinally extensive myelitis with acute severe neurological involvement. The promising prognosis of the disease could serve as a distinct clinical profile. Broad screening for antibodies against central nervous system autoimmune antigens is recommended in suspected patients with limited or atypical clinical manifestations.

References

Satoh M, Langdon J, Chou C, McCauliffe D, Treadwell E, Ogasawara T . Characterization of the Su antigen, a macromolecular complex of 100/102 and 200-kDa proteins recognized by autoantibodies in systemic rheumatic diseases. Clin Immunol Immunopathol. 1994; 73(1):132-41. DOI: 10.1006/clin.1994.1179. View

Jarius S, Aktas O, Ayzenberg I, Bellmann-Strobl J, Berthele A, Giglhuber K . Update on the diagnosis and treatment of neuromyelits optica spectrum disorders (NMOSD) - revised recommendations of the Neuromyelitis Optica Study Group (NEMOS). Part I: Diagnosis and differential diagnosis. J Neurol. 2023; 270(7):3341-3368. PMC: 10267280. DOI: 10.1007/s00415-023-11634-0. View

Vanderlugt C, Miller S . Epitope spreading in immune-mediated diseases: implications for immunotherapy. Nat Rev Immunol. 2002; 2(2):85-95. DOI: 10.1038/nri724. View

Jarius S, Wildemann B . The history of neuromyelitis optica. J Neuroinflammation. 2013; 10:8. PMC: 3599417. DOI: 10.1186/1742-2094-10-8. View

Wang X, Shi Z, Zhao Z, Chen H, Lang Y, Kong L . The causal relationship between neuromyelitis optica spectrum disorder and other autoimmune diseases. Front Immunol. 2022; 13:959469. PMC: 9562912. DOI: 10.3389/fimmu.2022.959469. View

Prasad C, Kopp C, Naidu G, Sharma V, Misra D, Agarwal V . 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. 2023; 44(12):2807-2815. DOI: 10.1007/s00296-023-05397-0. View

Meister G, Landthaler M, Peters L, Chen P, Urlaub H, Luhrmann R . Identification of novel argonaute-associated proteins. Curr Biol. 2005; 15(23):2149-55. DOI: 10.1016/j.cub.2005.10.048. View

Peters L, Meister G . Argonaute proteins: mediators of RNA silencing. Mol Cell. 2007; 26(5):611-23. DOI: 10.1016/j.molcel.2007.05.001. View

Do L, Moritz C, Muniz-Castrillo S, Pinto A, Tholance Y, Brugiere S . Argonaute Autoantibodies as Biomarkers in Autoimmune Neurologic Diseases. Neurol Neuroimmunol Neuroinflamm. 2021; 8(5). PMC: 8362341. DOI: 10.1212/NXI.0000000000001032. View

10.

Kumpfel T, Giglhuber K, Aktas O, Ayzenberg I, Bellmann-Strobl J, Haussler V . Update on the diagnosis and treatment of neuromyelitis optica spectrum disorders (NMOSD) - revised recommendations of the Neuromyelitis Optica Study Group (NEMOS). Part II: Attack therapy and long-term management. J Neurol. 2023; 271(1):141-176. PMC: 10770020. DOI: 10.1007/s00415-023-11910-z. View

11.

Jarius S, Wildemann B . The history of neuromyelitis optica. Part 2: 'Spinal amaurosis', or how it all began. J Neuroinflammation. 2019; 16(1):280. PMC: 6935230. DOI: 10.1186/s12974-019-1594-1. View

12.

Treadwell E, Alspaugh M, Sharp G . Characterization of a new antigen-antibody system (Su) in patients with systemic lupus erythematosus. Arthritis Rheum. 1984; 27(11):1263-71. DOI: 10.1002/art.1780271108. View

13.

Chen X, Zhou J, Li R, Zhang B, Wang Y, Zhong X . Disease Course and Outcomes in Patients With the Limited Form of Neuromyelitis Optica Spectrum Disorders and Negative AQP4-IgG Serology at Disease Onset: A Prospective Cohort Study. J Clin Neurol. 2022; 18(4):453-462. PMC: 9262456. DOI: 10.3988/jcn.2022.18.4.453. View

14.

Sepulveda M, Armangue T, Sola-Valls N, Arrambide G, Meca-Lallana J, Oreja-Guevara C . Neuromyelitis optica spectrum disorders: Comparison according to the phenotype and serostatus. Neurol Neuroimmunol Neuroinflamm. 2016; 3(3):e225. PMC: 4841645. DOI: 10.1212/NXI.0000000000000225. View

15.

Martin-Nares E, Hernandez-Molina G, Fragoso-Loyo H . Aquaporin-4-IgG positive neuromyelitis optica spectrum disorder and systemic autoimmune diseases overlap syndrome: a single-center experience. Lupus. 2019; 28(11):1302-1311. DOI: 10.1177/0961203319877255. View

16.

Hor J, Asgari N, Nakashima I, Broadley S, Leite M, Kissani N . Epidemiology of Neuromyelitis Optica Spectrum Disorder and Its Prevalence and Incidence Worldwide. Front Neurol. 2020; 11:501. PMC: 7332882. DOI: 10.3389/fneur.2020.00501. View

17.

Kahlenberg J . Neuromyelitis optica spectrum disorder as an initial presentation of primary Sjögren's syndrome. Semin Arthritis Rheum. 2010; 40(4):343-8. DOI: 10.1016/j.semarthrit.2010.05.005. View

18.

Filkova M, Jungel A, Gay R, Gay S . MicroRNAs in rheumatoid arthritis: potential role in diagnosis and therapy. BioDrugs. 2012; 26(3):131-41. DOI: 10.2165/11631480-000000000-00000. View

19.

Sato D, Lana-Peixoto M, Fujihara K, De Seze J . Clinical spectrum and treatment of neuromyelitis optica spectrum disorders: evolution and current status. Brain Pathol. 2013; 23(6):647-60. PMC: 8029254. DOI: 10.1111/bpa.12087. View

20.

Moritz C, Do L, Tholance Y, Vallayer P, Rogemond V, Joubert B . Conformation-stabilizing ELISA and cell-based assays reveal patient subgroups targeting three different epitopes of AGO1 antibodies. Front Immunol. 2022; 13:972161. PMC: 9630334. DOI: 10.3389/fimmu.2022.972161. View