title: A case of neuromyelitis optica harboring both anti-aquaporin-4 antibodies and a pathogenic mitochondrial DNA mutation for Leber's hereditary optic neuropathy.
abstract: We report the first case of definite neuromyelitis optica (NMO) with a pathogenic mitochondrial DNA (mtDNA) mutation for Leber's hereditary optic neuropathy (LHON) (G11778A point mutation). A 36-year-old Japanese woman had experienced recurrent neurological symptoms originating from involvements of the optic nerves and spinal cord. She finally lost her bilateral vision, and spastic paraparesis and sensory disturbances below the T6 level remained despite intensive immunotherapies. Brain and spinal magnetic resonance imaging (MRI) revealed T2-high-intensity lesions in the optic nerves and thoracic spinal cord, but no lesions in the brain. A blood examination revealed positivity for both anti-aquaproin-4 antibodies and an LHON mtDNA mutation.
authors.affiliation: Department of Neurology, Kyushu University, Japan.
authors.forename: Wataru
authors.initials: W
authors.lastname: Shiraishi
authors.forename: Shintaro
authors.initials: S
authors.lastname: Hayashi
authors.forename: Takashi
authors.initials: T
authors.lastname: Kamada
authors.forename: Noriko
authors.initials: N
authors.lastname: Isobe
authors.forename: Ryo
authors.initials: R
authors.lastname: Yamasaki
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Murai
authors.forename: Yasumasa
authors.initials: Y
authors.lastname: Ohyagi
authors.forename: Jun-ichi
authors.initials: J
authors.lastname: Kira
mesh_terms: D000328:Adult; D017668:Age of Onset; D051401:Aquaporin 4 / Q000276:immunology; D001323:Autoantibodies / Q000276:immunology; D001324:Autoantigens / Q000276:immunology; D001921:Brain / Q000473:pathology; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009471:Neuromyelitis Optica / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications* / Q000235:genetics / Q000473:pathology; D017354:Point Mutation; D013116:Spinal Cord / Q000473:pathology; D055815:Young Adult
chemical_list: C496030:AQP4 protein, human; D051401:Aquaporin 4; D001323:Autoantibodies; D001324:Autoantigens; D004272:DNA, Mitochondrial
keywords: Leber’s hereditary optic neuropathy; Neuromyelitis optica; anti-aquaporin-4 antibody; longitudinally extensive spinal cord lesion; mitochondrial DNA mutation; multiple sclerosis