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

Multiple Sclerosis

Volumn 20, Issue 2, 2014, Pages 258-260

  Shiraishi, Wataru ^a   Hayashi, Shintaro ^a   Kamada, Takashi ^a   Isobe, Noriko ^a   Yamasaki, Ryo ^b   Murai, Hiroyuki ^a   Ohyagi, Yasumasa ^b   Kira, Jun Ichi ^a  

^a KYUSHU UNIVERSITY   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

Author keywords

anti aquaporin 4 antibody; Leber's hereditary optic neuropathy; longitudinally extensive spinal cord lesion; mitochondrial DNA mutation; multiple sclerosis; Neuromyelitis optica

Indexed keywords

AQUAPORIN 4 ANTIBODY; DOUBLE STRANDED DNA ANTIBODY; GADOLINIUM; IMMUNOGLOBULIN G ANTIBODY; LA ANTIBODY; METHYLPREDNISOLONE; MITOCHONDRIAL DNA; MYELIN BASIC PROTEIN; PREDNISOLONE; RHEUMATOID FACTOR;

ADOLESCENT; ARTICLE; BABINSKI REFLEX; BLOOD EXAMINATION; BLURRED VISION; CASE REPORT; EVOKED MUSCLE RESPONSE; EVOKED SOMATOSENSORY RESPONSE; FEMALE; GENE MUTATION; HEMIANOPIA; HUMAN; HYPESTHESIA; IMMUNOTHERAPY; JAPANESE; LEBER HEREDITARY OPTIC NEUROPATHY; LIMB WEAKNESS; MYELOOPTIC NEUROPATHY; NERVE CONDUCTION; NERVE STIMULATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE; OPTIC NERVE ATROPHY; OPTIC NEURITIS; PLEOCYTOSIS; POINT MUTATION; PROTEIN CEREBROSPINAL FLUID LEVEL; RECURRENT DISEASE; RELAPSE; SENSORY DYSFUNCTION; SPASTIC PARAPLEGIA; SPASTICITY; SPINAL CORD LESION; TENDON REFLEX; THORACIC SPINAL CORD; TIBIAL NERVE; VISUAL ACUITY; VISUAL DISORDER; VISUAL IMPAIRMENT;

ANTI-AQUAPORIN-4 ANTIBODY; LEBER'S HEREDITARY OPTIC NEUROPATHY; LONGITUDINALLY EXTENSIVE SPINAL CORD LESION; MITOCHONDRIAL DNA MUTATION; MULTIPLE SCLEROSIS; NEUROMYELITIS OPTICA;

ADULT; AGE OF ONSET; AQUAPORIN 4; AUTOANTIBODIES; AUTOANTIGENS; BRAIN; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; NEUROMYELITIS OPTICA; OPTIC ATROPHY, HEREDITARY, LEBER; POINT MUTATION; SPINAL CORD; YOUNG ADULT;

EID: 84893598309     PISSN: 13524585     EISSN: 14770970     Source Type: Journal    
DOI: 10.1177/1352458513513057     Document Type: Article

References (9)

1. Riordan-Eva P, Harding AE. Leber's hereditary optic neuropathy: The clinical relevance of different mitochondrial DNA mutations. J Med Genet. 1995 ; 32: 81-87
2. Jaros E, Mahad DJ, Hudson G, et al. Primary spinal cord neurodegeneration in Leber's hereditary optic neuropathy. Neurology. 2007 ; 69: 214-216
3. Harding AE, Sweeney MG, Miller DH, et al. Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain. 1992 ; 115: 979-989
4. McClelland CM, Van Stavern GP, Tselis AC. Leber hereditary optic neuropathy mimicking neuromyelitis optica. J Neuro-Ophthalmol. 2011 ; 31: 265-268
5. Wingerchuck DM, Lennon VA, Pittock SJ, et al. Revised diagnostic criteria for neuromyolitis optica. Neurology. 2006 ; 66: 1485-1489
6. Simão LM. Neuromyelitis optica antibody in Leber hereditary optic neuropathy. Arq Bras Oftalmol. 2012 ; 75: 280-282
7. Ghezzi A, Baldini S, Zaffaroni M, et al. Devic's neuromyelitis optica and mitochondrial DNA mutation: A case report. Neurolol Sci. 2004 ; 25: S380 - S382
8. Hudson G, Mowbray C, Elison JL, et al. Does mitochondrial DNA predispose to neuromyolitis optica (Devic's disease)?. Brain. 2008 ; 131: 1-5
9. Celebisoy N, Akyurekli O, Asli C. Devic's neuromyelitis optica: A case with mitochondrial DNA mutations. Eur Neurol. 2006 ; 55: 93-95