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Genetic variations within the OPA1 gene are not associated with neuromyelitis optica

Lookup NU author(s): Kamil Sitarz, Dr Patrick Yu Wai Man, Professor Gavin Hudson, Professor Rita HorvathORCiD, Professor Patrick Chinnery


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Neuromyelitis optica (NMO) is an idiopathic demyelinating disease which predominantly affects the optic nerve and spinal cord. Multiplex NMO pedigrees have been reported but the genetic risk factors conferring this increased familial susceptibility have not yet been determined. OPA1 mutations have recently been identified in families with progressive visual failure and spastic paraparesis, raising the possibility that OPA1 genetic variants could contribute to the aetiology of NMO. We therefore screened for OPA1 in 32 patients with NMO. No pathogenic mutations were found, and none of the 13 single-nucleotide polymorphisms identified were associated with an increased risk of developing NMO.

Publication metadata

Author(s): Sitarz KS, Yu-Wai-Man P, Hudson G, Jacob A, Boggild M, Horvath R, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Multiple Sclerosis

Year: 2012

Volume: 18

Issue: 2

Pages: 240-243

Print publication date: 09/08/2011

ISSN (print): 1352-4585

ISSN (electronic): 1477-0970

Publisher: Sage Publications Ltd.


DOI: 10.1177/1352458511416838


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