title: NMO spectrum of disorders: a paradigm for astrocyte-targeting autoimmunity and its implications for MS and other CNS inflammatory diseases.
abstract: When studying a rare or orphan disease, we hope to shed light on more prevalent syndromes. Neuromyelitis optica (NMO), also known as Devic's disease, is a rare disease with a prevalence of about 4 in 100,000. Since 2005 when the anti-Aquaporin 4 (AQP4) NMO autoantibody was discovered by Lennon's group at the Mayo clinic, an enormous amount of data have been acquired on the pathogenesis of the disease. A review of the literature showed 47 relevant publications in 2004, compared with 353 in 2013. The auto-antigen AQP4 is expressed on the astrocytic foot processes suggesting a role for astrocytes in the pathogenesis of the disease. However, the astrocytes might play a more active role than has previously been suggested in the immune cascade of NMO pathology. Here we will review epidemiological, clinical diagnostic and therapeutic aspects of NMO and highlight the possible role of astrocytes as major direct and indirect players in the pathogenesis of NMO and related CNS inflammatory diseases.
authors.affiliation: Department of Neurology and the Multiple Sclerosis Center, the Agnes-Ginges Center for Neurogenetics, Hadassah - Medical Center, Ein-Karem, Jerusalem, 91120, Israel.
authors.forename: Adi
authors.initials: A
authors.lastname: Vaknin-Dembinsky
authors.affiliation: Department of Neurology and the Multiple Sclerosis Center, the Agnes-Ginges Center for Neurogenetics, Hadassah - Medical Center, Ein-Karem, Jerusalem, 91120, Israel.
authors.forename: Dimitrius
authors.initials: D
authors.lastname: Karussis
authors.affiliation: Department of Neurology and the Multiple Sclerosis Center, the Agnes-Ginges Center for Neurogenetics, Hadassah - Medical Center, Ein-Karem, Jerusalem, 91120, Israel.
authors.forename: Jasmine
authors.initials: J
authors.lastname: Avichzer
authors.affiliation: Department of Neurology and the Multiple Sclerosis Center, the Agnes-Ginges Center for Neurogenetics, Hadassah - Medical Center, Ein-Karem, Jerusalem, 91120, Israel. Electronic address: Hanna@Hadassah.org.il.
authors.forename: Oded
authors.initials: O
authors.lastname: Abramsky
mesh_terms: D000818:Animals; D051401:Aquaporin 4 / Q000276:immunology*; D001253:Astrocytes / Q000276:immunology* / Q000473:pathology; D001323:Autoantibodies / Q000276:immunology*; D006801:Humans; D007249:Inflammation / Q000453:epidemiology / Q000276:immunology / Q000473:pathology / Q000628:therapy; D009103:Multiple Sclerosis / Q000453:epidemiology / Q000276:immunology / Q000473:pathology / Q000628:therapy; D009471:Neuromyelitis Optica / Q000453:epidemiology / Q000276:immunology / Q000473:pathology / Q000628:therapy; D015995:Prevalence
chemical_list: C496030:AQP4 protein, human; D051401:Aquaporin 4; D001323:Autoantibodies
keywords: Antibody mediated disease; Astrocytes; Multiple sclerosis; NMO (neuromyelitis optica); Neuro-inflammation