Neuromyelitis optica spectrum disorder screening
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Julinka Auta Fernandes
Overview
- There is insufficient evidence to recommend routine screening for neuromyelitis optica spectrum disorder (NMOSD) in asymptomatic individuals. Current recommendations from the Neuromyelitis Optica Study Group (NEMOS) and the Middle East and North Africa Committee for Treatment and Research in Multiple Sclerosis (MENACTRIMS) do not establish a population-screening program, screening age, screening interval, or validated risk-prediction tool for NMOSD.[1][2]
- Testing serum for aquaporin-4 immunoglobulin G (AQP4-IgG) in a patient who already has compatible clinical or clinico-radiological findings is a diagnostic evaluation, not screening.[3]
- A positive AQP4-IgG result alone, in the absence of a compatible clinical attack, does not satisfy the International Panel for Neuromyelitis Optica Diagnosis (IPND) diagnostic criteria. Screening low-prevalence populations may produce false-positive results, unnecessary investigations, anxiety, misdiagnosis, and potentially harmful treatment.[3][1]
Screening
Recommendations according to population
| Population or clinical setting | Recommendation | Rationale and interpretation |
|---|---|---|
| Asymptomatic general population | Routine screening is not recommended. | NMOSD is rare, no validated screening strategy or interval exists, and no trial has shown that identifying and treating an asymptomatic person prevents a first attack.[1][2] |
| Asymptomatic first-degree relatives or individuals with a family history | Routine AQP4-IgG, genetic, or imaging screening is not recommended. | Most NMOSD is sporadic. No consensus guideline recommends screening relatives, and no genetic result has sufficient predictive value to guide preventive treatment.[1] |
| Individuals with demographic or immunogenetic susceptibility factors | Routine screening is not recommended. | Female sex, ancestry, and selected human leukocyte antigen (HLA) alleles are population-level associations and must not be used as stand-alone indications for AQP4-IgG testing, genetic testing, or neuroimaging.[1] |
| Asymptomatic patients with systemic autoimmune or rheumatological disease | Universal AQP4-IgG screening is not currently recommended. | Although NMOSD may coexist with systemic lupus erythematosus, Sjögren syndrome, myasthenia gravis, or autoimmune thyroid disease, blanket testing in neurologically asymptomatic patients is not supported by current evidence. A 2025 expert appraisal concluded that indiscriminate screening of all rheumatology patients could not be recommended because of low absolute prevalence, false-positive results, and uncertain management of asymptomatic seropositivity.[4] |
| Patients with established multiple sclerosis and no NMOSD-compatible features | Broad, unselected AQP4-IgG screening is discouraged. | The Neuromyelitis Optica Study Group warns that unselected testing of patients with multiple sclerosis who lack NMOSD core characteristics may produce an unfavorable ratio of false-positive to true-positive results.[1] |
| Patients with clinical or clinico-radiological findings compatible with NMOSD | Prompt targeted diagnostic testing is recommended; this is not screening. | Serum AQP4-IgG testing using an appropriate cell-based assay should be performed when a compatible core clinical characteristic is present. Diagnostic interpretation must integrate clinical findings, magnetic resonance imaging (MRI), antibody status, and exclusion of a better diagnosis.[1][2] |
Potential screening tests
| Test | Screening status | Appropriate role |
|---|---|---|
| Serum AQP4-IgG cell-based assay | Not recommended for routine screening. | This is the preferred antibody assay for the diagnostic evaluation of a patient with an NMOSD-compatible clinical or clinico-radiological presentation. Testing should be performed in serum and interpreted in its clinical context.[1][2] |
| Serum myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) cell-based assay | Not recommended for routine screening. | MOG-IgG testing is used selectively in the differential diagnostic evaluation of patients with clinical features compatible with myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). MOGAD is distinct from NMOSD.[1] |
| Brain, orbital, or spinal MRI | Not recommended for population screening. | The 2026 Magnetic Resonance Imaging in Multiple Sclerosis (MAGNIMS) consensus recommendations address MRI for diagnosis, monitoring, and research; MRI has no validated population-screening role in asymptomatic people.[5] |
| Optical coherence tomography or visual evoked potentials | Not recommended for population screening. | These tests may support neuro-ophthalmic assessment or differential diagnosis in selected symptomatic patients, but neither has adequate evidence or a validated threshold for NMOSD screening.[1] |
| Cerebrospinal fluid examination | Not recommended for screening. | Lumbar puncture may contribute to the differential diagnostic evaluation of a symptomatic patient. Cerebrospinal fluid AQP4-IgG testing adds little sensitivity when an appropriate serum assay is available and is not a screening test.[1] |
| HLA typing, other genetic testing, or investigational biomarkers | Not recommended for clinical screening. | HLA typing and proposed biomarkers—including glial fibrillary acidic protein, neurofilament light chain, cytokines, and other autoantibodies—lack validated screening thresholds and should remain research tools unless a separate clinical indication exists.[1] |
When screening becomes diagnostic evaluation
- Neuromyelitis optica spectrum disorder should be evaluated diagnostically—not screened for—when a patient develops one or more compatible core clinical characteristics, including optic neuritis, acute myelitis, area postrema syndrome, an acute brainstem syndrome, symptomatic narcolepsy or an acute diencephalic syndrome with a compatible MRI lesion, or a symptomatic cerebral syndrome with a compatible MRI lesion.[3][1]
- In these clinical settings, targeted serum AQP4-IgG testing should not be delayed. The complete diagnostic criteria and workup belong on the NMOSD diagnostic pages rather than this screening page.
Screening interval and follow-up
- Neuromyelitis optica spectrum disorder has no recommended screening age, starting time, interval, or stopping age.[1][2]
- An incidentally detected AQP4-IgG result in an asymptomatic person should be confirmed with a high-specificity cell-based assay and reviewed by a neurologist or neuroimmunology specialist; antibody positivity alone does not establish NMOSD.[3][1]
- Repeat MRI, antibody measurement, optical coherence tomography, and neurological examination in a patient with established NMOSD constitute disease monitoring, not screening.[5]
Research considerations
- Aquaporin-4 immunoglobulin G and nonspecific neurological symptoms have occasionally been detected before the first recognized NMOSD attack. However, the natural history of asymptomatic seropositivity is uncertain, and no validated method identifies which seropositive individuals will develop clinical disease.[6]
- Prospective studies are required to define predictive biomarkers, the benefits and harms of screening, cost-effectiveness, and whether any intervention can safely prevent a first attack.
References
- ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 1.12 1.13 1.14 Jarius S, Aktas O, Ayzenberg I, et al. Update on the diagnosis and treatment of neuromyelitis optica spectrum disorders—revised recommendations of the Neuromyelitis Optica Study Group (NEMOS). Part I: Diagnosis and differential diagnosis. Journal of Neurology. 2023;270(7):3341-3368. doi:10.1007/s00415-023-11634-0. PMID: 37022481.
- ↑ 2.0 2.1 2.2 2.3 2.4 Yamout B, Gouider R, Al-Roughani R, et al. Consensus recommendations for the diagnosis and treatment of neuromyelitis optica spectrum disorders: The MENACTRIMS Guidelines. CNS Drugs. 2026;40(3):283-303. doi:10.1007/s40263-025-01260-x. PMID: 41591715.
- ↑ 3.0 3.1 3.2 3.3 Wingerchuk DM, Banwell B, Bennett JL, et al. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders. Neurology. 2015;85(2):177-189. doi:10.1212/WNL.0000000000001729. PMID: 26092914; PMCID: PMC4515040.
- ↑ van der Walt A. Patients with rheumatological diseases should routinely be tested for aquaporin-4 antibodies: Commentary. Multiple Sclerosis Journal. 2025;31(11):1280-1281. doi:10.1177/13524585251367335.
- ↑ 5.0 5.1 Cortese R, Hacohen Y, Arrambide G, et al. Use of MRI in neuromyelitis optica spectrum disorder and myelin oligodendrocyte glycoprotein antibody-associated disease—MAGNIMS consensus recommendations. Nature Reviews Neurology. Published online September 28, 2026. doi:10.1038/s41582-026-01271-2.
- ↑ Lee S, Marrie RA, Fadda G, et al. Is there a prodrome to NMOSD? An investigation of neurologic symptoms preceding the first NMOSD attack. Multiple Sclerosis Journal. 2024;30(11-12):1423-1435. doi:10.1177/13524585241275491. PMID: 39258406; PMCID: PMC11529114.