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Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

MedGen UID:
1842475
Concept ID:
C5680295
Disease or Syndrome
Synonyms: neuromyelitis optica spectrum disorder with anti-AQP4 antibodies; Neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies; NMOSD with anti-AQP4 antibodies
 
Monarch Initiative: MONDO:0035663
Orphanet: ORPHA592850

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Professional guidelines

PubMed

Wallach AI, Tremblay M, Kister I
Neurol Clin 2021 Feb;39(1):35-49. Epub 2020 Nov 7 doi: 10.1016/j.ncl.2020.09.003. PMID: 33223088
Giglhuber K, Berthele A
Immunotherapy 2020 Oct;12(14):1053-1066. Epub 2020 Aug 10 doi: 10.2217/imt-2020-0163. PMID: 32772617
Wu Y, Zhong L, Geng J
Mult Scler Relat Disord 2019 Jan;27:412-418. Epub 2018 Dec 3 doi: 10.1016/j.msard.2018.12.002. PMID: 30530071

Recent clinical studies

Etiology

Afzali AM, Nirschl L, Sie C, Pfaller M, Ulianov O, Hassler T, Federle C, Petrozziello E, Kalluri SR, Chen HH, Tyystjärvi S, Muschaweckh A, Lammens K, Delbridge C, Büttner A, Steiger K, Seyhan G, Ottersen OP, Öllinger R, Rad R, Jarosch S, Straub A, Mühlbauer A, Grassmann S, Hemmer B, Böttcher JP, Wagner I, Kreutzfeldt M, Merkler D, Pardàs IB, Schmidt Supprian M, Buchholz VR, Heink S, Busch DH, Klein L, Korn T
Nature 2024 Mar;627(8003):407-415. Epub 2024 Feb 21 doi: 10.1038/s41586-024-07079-8. PMID: 38383779Free PMC Article
Matsuoka T, Araki M, Lin Y, Okamoto T, Gold R, Chihara N, Sato W, Kimura A, Tachimori H, Miyamoto K, Kusunoki S, Yamamura T
Neurol Neuroimmunol Neuroinflamm 2024 Jan;11(1) Epub 2023 Oct 20 doi: 10.1212/NXI.0000000000200173. PMID: 37863660Free PMC Article
Min W, Zhang L, Wang S, Xue M, Guo C, Zhu M
Mult Scler Relat Disord 2023 Feb;70:104517. Epub 2023 Jan 15 doi: 10.1016/j.msard.2023.104517. PMID: 36708681
Chihara N, Yamamura T
Semin Immunopathol 2022 Sep;44(5):599-610. Epub 2022 May 30 doi: 10.1007/s00281-022-00941-9. PMID: 35635574
Giglhuber K, Berthele A
Immunotherapy 2020 Oct;12(14):1053-1066. Epub 2020 Aug 10 doi: 10.2217/imt-2020-0163. PMID: 32772617

Diagnosis

Filippi M, Preziosa P, Banwell BL, Barkhof F, Ciccarelli O, De Stefano N, Geurts JJG, Paul F, Reich DS, Toosy AT, Traboulsee A, Wattjes MP, Yousry TA, Gass A, Lubetzki C, Weinshenker BG, Rocca MA
Brain 2019 Jul 1;142(7):1858-1875. doi: 10.1093/brain/awz144. PMID: 31209474Free PMC Article
Franciotta D, Gastaldi M, Sala A, Andreetta F, Rinaldi E, Ruggieri M, Leante R, Costa G, Biagioli T, Massacesi L, Bazzigaluppi E, Fazio R, Mariotto S, Ferrari S, Galloni E, Perini F, Zardini E, Zuliani L, Zoccarato M, Giometto B, Bertolotto A
Neurol Sci 2017 Oct;38(Suppl 2):231-236. doi: 10.1007/s10072-017-3027-1. PMID: 29030768
Chang KH, Ro LS, Lyu RK, Chen CM
Clin Chim Acta 2015 Feb 2;440:64-71. Epub 2014 Nov 7 doi: 10.1016/j.cca.2014.11.004. PMID: 25444748
Uzawa A, Mori M, Kuwabara S
Brain Pathol 2014 Jan;24(1):67-73. doi: 10.1111/bpa.12097. PMID: 24345220Free PMC Article
Noval S, Oreja-Guevara C, Contreras I
Expert Rev Neurother 2013 Sep;13(9):989-99. doi: 10.1586/14737175.2013.832850. PMID: 24053343

Therapy

Matsuoka T, Araki M, Lin Y, Okamoto T, Gold R, Chihara N, Sato W, Kimura A, Tachimori H, Miyamoto K, Kusunoki S, Yamamura T
Neurol Neuroimmunol Neuroinflamm 2024 Jan;11(1) Epub 2023 Oct 20 doi: 10.1212/NXI.0000000000200173. PMID: 37863660Free PMC Article
Chihara N, Yamamura T
Semin Immunopathol 2022 Sep;44(5):599-610. Epub 2022 May 30 doi: 10.1007/s00281-022-00941-9. PMID: 35635574
Wallach AI, Tremblay M, Kister I
Neurol Clin 2021 Feb;39(1):35-49. Epub 2020 Nov 7 doi: 10.1016/j.ncl.2020.09.003. PMID: 33223088
Giglhuber K, Berthele A
Immunotherapy 2020 Oct;12(14):1053-1066. Epub 2020 Aug 10 doi: 10.2217/imt-2020-0163. PMID: 32772617
Uzawa A, Mori M, Kuwabara S
Brain Pathol 2014 Jan;24(1):67-73. doi: 10.1111/bpa.12097. PMID: 24345220Free PMC Article

Prognosis

Chihara N, Yamamura T
Semin Immunopathol 2022 Sep;44(5):599-610. Epub 2022 May 30 doi: 10.1007/s00281-022-00941-9. PMID: 35635574
Giglhuber K, Berthele A
Immunotherapy 2020 Oct;12(14):1053-1066. Epub 2020 Aug 10 doi: 10.2217/imt-2020-0163. PMID: 32772617
Pandit L, Asgari N, Apiwattanakul M, Palace J, Paul F, Leite MI, Kleiter I, Chitnis T; GJCF International Clinical Consortium & Biorepository for Neuromyelitis Optica
Mult Scler 2015 Jun;21(7):845-53. Epub 2015 Apr 28 doi: 10.1177/1352458515572406. PMID: 25921037Free PMC Article
Noval S, Oreja-Guevara C, Contreras I
Expert Rev Neurother 2013 Sep;13(9):989-99. doi: 10.1586/14737175.2013.832850. PMID: 24053343
González C, González-Buitrago JM, Izquierdo G
Clin Chim Acta 2013 Jan 16;415:350-60. Epub 2012 May 2 doi: 10.1016/j.cca.2012.04.027. PMID: 22580368

Clinical prediction guides

Matsuoka T, Araki M, Lin Y, Okamoto T, Gold R, Chihara N, Sato W, Kimura A, Tachimori H, Miyamoto K, Kusunoki S, Yamamura T
Neurol Neuroimmunol Neuroinflamm 2024 Jan;11(1) Epub 2023 Oct 20 doi: 10.1212/NXI.0000000000200173. PMID: 37863660Free PMC Article
Min W, Zhang L, Wang S, Xue M, Guo C, Zhu M
Mult Scler Relat Disord 2023 Feb;70:104517. Epub 2023 Jan 15 doi: 10.1016/j.msard.2023.104517. PMID: 36708681
Chihara N, Yamamura T
Semin Immunopathol 2022 Sep;44(5):599-610. Epub 2022 May 30 doi: 10.1007/s00281-022-00941-9. PMID: 35635574
Asgari N
Dan Med J 2013 Oct;60(10):B4730. PMID: 24083534
González C, González-Buitrago JM, Izquierdo G
Clin Chim Acta 2013 Jan 16;415:350-60. Epub 2012 May 2 doi: 10.1016/j.cca.2012.04.027. PMID: 22580368

Recent systematic reviews

Kopp CR, Prasad CB, Naidu S, Sharma V, Misra DP, Agarwal V, Sharma A
Lupus 2023 Sep;32(10):1164-1172. Epub 2023 Jul 24 doi: 10.1177/09612033231191180. PMID: 37487596

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