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July 26, 2010

Familial neuromyelitis optica

M. Matiello, MD, H.J. Kim, MD, PhD, W. Kim, MD, D.G. Brum, MD, A.A. Barreira, MD, D.J. Kingsbury, MD, G.T. Plant, MD, T. Adoni, MD, and B.G. Weinshenker, MDAuthors Info & Affiliations
July 27, 2010 issue
75 (4) 310-315
https://doi.org/10.1212/WNL.0b013e3181ea9f15
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Abstract

Background: Detection of aquaporin-4–specific immunoglobulin G (IgG) has expanded the spectrum of neuromyelitis optica (NMO). Rare reports of familial aggregation have suggested a component of genetic susceptibility but these reports mostly antedated the discovery of the NMO-IgG biomarker and recently updated diagnostic criteria.
Methods: We report a case series describing the demographic, clinical, neuroimaging, and NMO-IgG serologic status of 12 multiplex NMO pedigrees with a total of 25 affected individuals.
Results: Twenty-one patients (84%) were women. Families were Asian (n = 5), Latino (n = 4), white (n = 1), or African (n = 2). Apparent transmission was either maternal (n = 5) or paternal (n = 2). In 1 family, 3 individuals had NMO; in the others, 2 individuals were affected. Sibling pairs (n = 6), parent-child (n = 4), and aunt-niece (n = 3) pairs were observed. Nineteen patients (76%) were NMO-IgG positive. Twelve (48%) had clinical or serologic evidence of another autoimmune disease. Familial occurrence of NMO occurs in approximately 3% of patients with well-established diagnosis of NMO.
Conclusions: A small proportion of patients with NMO have relatives with this condition, but familial occurrence is more common than would be expected from its frequency in the general population. Familial NMO is indistinguishable from sporadic NMO based on clinical symptoms, age at onset, sex distribution, and frequency of NMO-IgG detection. One or 2 generations were affected and affected individuals represented a small fraction of family members. Taken together, these data suggest complex genetic susceptibility in NMO.

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Information & Authors

Information

Published In

Neurology®
Volume 75 • Number 4 • July 27, 2010
Pages: 310-315
PubMed: 20660861

Copyright

© 2010.

Publication History

Published online: July 26, 2010
Published in print: July 27, 2010

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Keyword

  1. AQP4 = aquaporin-4; CI = confidence interval; HLA = human leukocyte antigen; IgG = immunoglobulin G; LETM = longitudinally extensive transverse myelitis; MS = multiple sclerosis; NMO = neuromyelitis optica; ON = optic neuritis; OR = odds ratio.

Authors

Affiliations & Disclosures

M. Matiello, MD
From the Department of Neurology (M.M., B.G.W.), Mayo Clinic, Rochester, MN; Department of Neurology (H.J.K., W.K.), National Cancer Center, Goyang, South Korea; Department of Neuroscience and Behavior (D.G.B., A.A.B.), Medical School of Riberão Preto, University of São Paulo, São Paulo, Brazil; Department of Pediatrics (D.J.K.), Legacy Emanuel Hospital, Portland, OR; Department of Neurology (G.T.P.), The National Hospital for Neurology and Neurosurgery Queen Square, London, UK; and Department of Neurology (T.A.), University of São Paulo School of Medicine, São Paulo, Brazil.
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H.J. Kim, MD, PhD
From the Department of Neurology (M.M., B.G.W.), Mayo Clinic, Rochester, MN; Department of Neurology (H.J.K., W.K.), National Cancer Center, Goyang, South Korea; Department of Neuroscience and Behavior (D.G.B., A.A.B.), Medical School of Riberão Preto, University of São Paulo, São Paulo, Brazil; Department of Pediatrics (D.J.K.), Legacy Emanuel Hospital, Portland, OR; Department of Neurology (G.T.P.), The National Hospital for Neurology and Neurosurgery Queen Square, London, UK; and Department of Neurology (T.A.), University of São Paulo School of Medicine, São Paulo, Brazil.
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W. Kim, MD
From the Department of Neurology (M.M., B.G.W.), Mayo Clinic, Rochester, MN; Department of Neurology (H.J.K., W.K.), National Cancer Center, Goyang, South Korea; Department of Neuroscience and Behavior (D.G.B., A.A.B.), Medical School of Riberão Preto, University of São Paulo, São Paulo, Brazil; Department of Pediatrics (D.J.K.), Legacy Emanuel Hospital, Portland, OR; Department of Neurology (G.T.P.), The National Hospital for Neurology and Neurosurgery Queen Square, London, UK; and Department of Neurology (T.A.), University of São Paulo School of Medicine, São Paulo, Brazil.
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D.G. Brum, MD
From the Department of Neurology (M.M., B.G.W.), Mayo Clinic, Rochester, MN; Department of Neurology (H.J.K., W.K.), National Cancer Center, Goyang, South Korea; Department of Neuroscience and Behavior (D.G.B., A.A.B.), Medical School of Riberão Preto, University of São Paulo, São Paulo, Brazil; Department of Pediatrics (D.J.K.), Legacy Emanuel Hospital, Portland, OR; Department of Neurology (G.T.P.), The National Hospital for Neurology and Neurosurgery Queen Square, London, UK; and Department of Neurology (T.A.), University of São Paulo School of Medicine, São Paulo, Brazil.
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A.A. Barreira, MD
From the Department of Neurology (M.M., B.G.W.), Mayo Clinic, Rochester, MN; Department of Neurology (H.J.K., W.K.), National Cancer Center, Goyang, South Korea; Department of Neuroscience and Behavior (D.G.B., A.A.B.), Medical School of Riberão Preto, University of São Paulo, São Paulo, Brazil; Department of Pediatrics (D.J.K.), Legacy Emanuel Hospital, Portland, OR; Department of Neurology (G.T.P.), The National Hospital for Neurology and Neurosurgery Queen Square, London, UK; and Department of Neurology (T.A.), University of São Paulo School of Medicine, São Paulo, Brazil.
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D.J. Kingsbury, MD
From the Department of Neurology (M.M., B.G.W.), Mayo Clinic, Rochester, MN; Department of Neurology (H.J.K., W.K.), National Cancer Center, Goyang, South Korea; Department of Neuroscience and Behavior (D.G.B., A.A.B.), Medical School of Riberão Preto, University of São Paulo, São Paulo, Brazil; Department of Pediatrics (D.J.K.), Legacy Emanuel Hospital, Portland, OR; Department of Neurology (G.T.P.), The National Hospital for Neurology and Neurosurgery Queen Square, London, UK; and Department of Neurology (T.A.), University of São Paulo School of Medicine, São Paulo, Brazil.
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G.T. Plant, MD
From the Department of Neurology (M.M., B.G.W.), Mayo Clinic, Rochester, MN; Department of Neurology (H.J.K., W.K.), National Cancer Center, Goyang, South Korea; Department of Neuroscience and Behavior (D.G.B., A.A.B.), Medical School of Riberão Preto, University of São Paulo, São Paulo, Brazil; Department of Pediatrics (D.J.K.), Legacy Emanuel Hospital, Portland, OR; Department of Neurology (G.T.P.), The National Hospital for Neurology and Neurosurgery Queen Square, London, UK; and Department of Neurology (T.A.), University of São Paulo School of Medicine, São Paulo, Brazil.
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T. Adoni, MD
From the Department of Neurology (M.M., B.G.W.), Mayo Clinic, Rochester, MN; Department of Neurology (H.J.K., W.K.), National Cancer Center, Goyang, South Korea; Department of Neuroscience and Behavior (D.G.B., A.A.B.), Medical School of Riberão Preto, University of São Paulo, São Paulo, Brazil; Department of Pediatrics (D.J.K.), Legacy Emanuel Hospital, Portland, OR; Department of Neurology (G.T.P.), The National Hospital for Neurology and Neurosurgery Queen Square, London, UK; and Department of Neurology (T.A.), University of São Paulo School of Medicine, São Paulo, Brazil.
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B.G. Weinshenker, MD
From the Department of Neurology (M.M., B.G.W.), Mayo Clinic, Rochester, MN; Department of Neurology (H.J.K., W.K.), National Cancer Center, Goyang, South Korea; Department of Neuroscience and Behavior (D.G.B., A.A.B.), Medical School of Riberão Preto, University of São Paulo, São Paulo, Brazil; Department of Pediatrics (D.J.K.), Legacy Emanuel Hospital, Portland, OR; Department of Neurology (G.T.P.), The National Hospital for Neurology and Neurosurgery Queen Square, London, UK; and Department of Neurology (T.A.), University of São Paulo School of Medicine, São Paulo, Brazil.
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Notes

Address correspondence and reprint requests to Dr. Brian Weinshenker, Department of Neurology, Mayo Clinic, 200 First St. SW, Rochester, MN 55905 [email protected]

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