Familial neuromyelitis optica

M. Matiello, H. J. Kim, W. Kim, D. G. Brum, A. A. Barreira, D. J. Kingsbury, G. T. Plant, T. Adoni, Brian G Weinshenker

Research output: Contribution to journalArticle

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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.

Original languageEnglish (US)
Pages (from-to)310-315
Number of pages6
JournalNeurology
Volume75
Issue number4
DOIs
StatePublished - Jul 27 2010

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Neuromyelitis Optica
Immunoglobulin G
Genetic Predisposition to Disease
Aquaporin 4
Sex Distribution
Pedigree
Age of Onset
Hispanic Americans
Neuroimaging
Autoimmune Diseases

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Matiello, M., Kim, H. J., Kim, W., Brum, D. G., Barreira, A. A., Kingsbury, D. J., ... Weinshenker, B. G. (2010). Familial neuromyelitis optica. Neurology, 75(4), 310-315. https://doi.org/10.1212/WNL.0b013e3181ea9f15

Familial neuromyelitis optica. / Matiello, M.; Kim, H. J.; Kim, W.; Brum, D. G.; Barreira, A. A.; Kingsbury, D. J.; Plant, G. T.; Adoni, T.; Weinshenker, Brian G.

In: Neurology, Vol. 75, No. 4, 27.07.2010, p. 310-315.

Research output: Contribution to journalArticle

Matiello, M, Kim, HJ, Kim, W, Brum, DG, Barreira, AA, Kingsbury, DJ, Plant, GT, Adoni, T & Weinshenker, BG 2010, 'Familial neuromyelitis optica', Neurology, vol. 75, no. 4, pp. 310-315. https://doi.org/10.1212/WNL.0b013e3181ea9f15
Matiello M, Kim HJ, Kim W, Brum DG, Barreira AA, Kingsbury DJ et al. Familial neuromyelitis optica. Neurology. 2010 Jul 27;75(4):310-315. https://doi.org/10.1212/WNL.0b013e3181ea9f15
Matiello, M. ; Kim, H. J. ; Kim, W. ; Brum, D. G. ; Barreira, A. A. ; Kingsbury, D. J. ; Plant, G. T. ; Adoni, T. ; Weinshenker, Brian G. / Familial neuromyelitis optica. In: Neurology. 2010 ; Vol. 75, No. 4. pp. 310-315.
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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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AU - Matiello, M.

AU - Kim, H. J.

AU - Kim, W.

AU - Brum, D. G.

AU - Barreira, A. A.

AU - Kingsbury, D. J.

AU - Plant, G. T.

AU - Adoni, T.

AU - Weinshenker, Brian G

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N2 - 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.

AB - 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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