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Updated: Jun 10, 2026
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Induction of Paralysis and Visual System Injury in Mice by T Cells Specific for Neuromyelitis Optica Autoantigen Aquaporin-4
Published on: August 21, 2017
Familial neuromyelitis optica
1Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
Neurology
|July 28, 2010
Summary
Familial neuromyelitis optica (NMO) occurs in about 3% of patients and shows complex genetic susceptibility. Familial NMO is clinically similar to sporadic NMO, suggesting shared underlying factors.
Area of Science:
- Neurology
- Immunology
- Genetics
Background:
- Neuromyelitis optica (NMO) diagnosis is enhanced by detecting aquaporin-4-specific immunoglobulin G (NMO-IgG).
- Previous reports suggest genetic susceptibility in NMO, but often predate NMO-IgG biomarker discovery and updated criteria.
Purpose of the Study:
- To investigate the demographic, clinical, and serologic characteristics of familial NMO.
- To analyze patterns of NMO occurrence within multiplex NMO pedigrees.
Main Methods:
- A case series was conducted on 12 multiplex NMO pedigrees, totaling 25 affected individuals.
- Data collected included demographics, clinical presentation, neuroimaging, and NMO-IgG serologic status.
Main Results:
- Familial NMO occurred in approximately 3% of diagnosed patients, with 84% being female.
- Observed familial patterns included maternal/paternal transmission and affected sibling, parent-child, and aunt-niece pairs.
- Seventy-six percent of patients were NMO-IgG positive, and 48% had co-existing autoimmune diseases.
Conclusions:
- Familial NMO, while rare, is more common than expected and clinically indistinguishable from sporadic NMO.
- Findings suggest a complex genetic susceptibility component in the pathogenesis of NMO.
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