Article
Genetic analysis of the aquaporin-4 gene for anti-AQP4 antibody-positive neuromyelitis optica in a Japanese population.
Japanese journal of ophthalmology - 1 May 2016
Ogasawara Mikihide, Meguro Akira, Sakai Tsutomu, Mizuki Nobuhisa, Takahashi Toshiyuki, Fujihara Kazuo, Tsuneoka Hiroshi, Shikishima Keigo
Abstract excerpt
PURPOSE: Neuromyelitis optica (NMO) is an inflammatory demyelinating disorder that generally affects the optic nerve and spinal cord. The etiology of this disease is still uncertain, but autoantibodies to aquaporin-4 (AQP4) are specific and pathogenic for NMO. Recent studies show that AQP4 gene variants are associated with NMO. In this study, we assessed the contribution of AQP4 genetic variants to susceptibility...
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