Genetic variations within the OPA1 gene are not associated with neuromyelitis optica.
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ABSTRACT:
SUBMITTER: Sitarz KS
PROVIDER: S-EPMC4040403 | biostudies-literature | 2012 Feb
REPOSITORIES: biostudies-literature
Publications
Genetic variations within the OPA1 gene are not associated with neuromyelitis optica.
Sitarz Kamil S KS Yu-Wai-Man Patrick P Hudson Gavin G Jacob Anu A Boggild Mike M Horvath Rita R Chinnery Patrick F PF
Multiple sclerosis (Houndmills, Basingstoke, England) 20110809 2
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 s ...[more]
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