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Induction of Paralysis and Visual System Injury in Mice by T Cells Specific for Neuromyelitis Optica Autoantigen Aquaporin-4
09:29

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Published on: August 21, 2017

Familial neuromyelitis optica.

M Matiello1, H J Kim, W Kim

  • 1Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

Neurology
|July 28, 2010
PubMed
Summary
This summary is machine-generated.

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.

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Induction of Paralysis and Visual System Injury in Mice by T Cells Specific for Neuromyelitis Optica Autoantigen Aquaporin-4
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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.