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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.
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.
URL: http://dx.doi.org/10.1177/1352458511416838
DOI: 10.1177/1352458511416838
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