KEGG   DISEASE: Neuromyelitis optica
Entry
H01491                      Disease                                

Name
Neuromyelitis optica;
Devic disease
Description
Neuromyelitis optica (NMO), also known as Devic's disease is an inflammatory demyelinating disease that selectively affects optic nerves and spinal cord. The etiology of NMO is unknown but it is believed to be an autoimmune disorder triggered by an environmental factor, possibly an infection, in genetically susceptible individuals. The principal effector in NMO is the self-reactive, complement-activating anti-AQP4 antibody. AQP4 water channel is a component of the dystroglycan protein complex located in astrocytic foot processes at the blood-brain barrier. Anti-AQP4 antibody is sensitive and highly specific serum markers of autoimmune NMO. For many decades, NMO was considered to be a subtype of multiple sclerosis (MS), but prognosis and optimal treatments differ. Corticosteroids and plasma exchange (PLEX) are the most commonly used therapeutic modalities in acute settings. Corticosteroids exert global immunosuppressive and anti-inflammatory effects, whereas PLEX removes antibodies, complement, and cytokines from the blood. Besides, immunosuppressant agents interfering with the function of T and B cells have been shown to prevent disease relapses and reduce neurological disability in NMO.
Category
Immune system disease; Nervous system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H01491  Neuromyelitis optica
 Nervous system diseases
  Other nervous and sensory system diseases
   H01491  Neuromyelitis optica
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Multiple sclerosis or other white matter disorders
   8A43  Neuromyelitis optica
    H01491  Neuromyelitis optica
Related
pathway
hsa04962 Vasopressin-regulated water reabsorption   
hsa04976 Bile secretion   
Gene
AQP4 [HSA:361] [KO:K09866]
Drug
Eculizumab [DR:D03940] (AQP4 antibody positive)
Inebilizumab [DR:D11757] (AQP4 antibody positive)
Satralizumab [DR:D11079] (anti-AQP4 antibody positive)
Comment
See also H01490 Multiple sclerosis.
Other DBs
ICD-11: 8A43
ICD-10: G36.0
MeSH: D009471
Reference
  Authors
Jasiak-Zatonska M, Kalinowska-Lyszczarz A, Michalak S, Kozubski W
  Title
The Immunology of Neuromyelitis Optica-Current Knowledge, Clinical Implications, Controversies and Future Perspectives.
  Journal
Int J Mol Sci 17:273 (2016)
DOI:10.3390/ijms17030273
Reference
PMID:20639914 (marker)
  Authors
Jarius S, Wildemann B
  Title
AQP4 antibodies in neuromyelitis optica: diagnostic and pathogenetic relevance.
  Journal
Nat Rev Neurol 6:383-92 (2010)
DOI:10.1038/nrneurol.2010.72
Reference
PMID:16087714 (marker)
  Authors
Lennon VA, Kryzer TJ, Pittock SJ, Verkman AS, Hinson SR
  Title
IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel.
  Journal
J Exp Med 202:473-7 (2005)
DOI:10.1084/jem.20050304
Reference
PMID:24455211 (drug)
  Authors
Bienia B, Balabanov R
  Title
Immunotherapy of neuromyelitis optica.
  Journal
Autoimmune Dis 2013:741490 (2013)
DOI:10.1155/2013/741490
Reference
PMID:23623397 (drug)
  Authors
Pittock SJ, Lennon VA, McKeon A, Mandrekar J, Weinshenker BG, Lucchinetti CF, O'Toole O, Wingerchuk DM
  Title
Eculizumab in AQP4-IgG-positive relapsing neuromyelitis optica spectrum disorders: an open-label pilot study.
  Journal
Lancet Neurol 12:554-62 (2013)
DOI:10.1016/S1474-4422(13)70076-0
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