A case of neuromyelitis optica harboring both anti-aquaporin-4 antibodies and a pathogenic mitochondrial DNA mutation for Leber’s hereditary optic neuropathy

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...

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Bibliographic Details
Published in:Multiple sclerosis 2014-02, Vol.20 (2), p.258-260
Main Authors: Shiraishi, Wataru, Hayashi, Shintaro, Kamada, Takashi, Isobe, Noriko, Yamasaki, Ryo, Murai, Hiroyuki, Ohyagi, Yasumasa, Kira, Jun-ichi
Format: Article
Language:English
Subjects:
Adult
Age of Onset
Aquaporin 4 - immunology
Autoantibodies - immunology
Autoantigens - immunology
Biological and medical sciences
Brain - pathology
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Diseases of the osteoarticular system
Diseases of the spine
Diseases of visual field, optic nerve, optic chiasma and optic tracts
DNA, Mitochondrial - genetics
Female
Humans
Magnetic Resonance Imaging
Medical sciences
Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis
Neurology
Neuromyelitis Optica - complications
Neuromyelitis Optica - genetics
Neuromyelitis Optica - pathology
Ophthalmology
Optic Atrophy, Hereditary, Leber - complications
Optic Atrophy, Hereditary, Leber - genetics
Optic Atrophy, Hereditary, Leber - pathology
Point Mutation
Spinal Cord - pathology
Young Adult
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Summary: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.
ISSN:1352-4585
1477-0970
DOI:10.1177/1352458513513057