Skip to main content
Top
Published in: Neurological Sciences 2/2017

01-10-2017 | Guideline Article

Diagnostics of the neuromyelitis optica spectrum disorders (NMOSD)

Authors: Diego Franciotta, Matteo Gastaldi, Arianna Sala, Francesca Andreetta, Elena Rinaldi, Maddalena Ruggieri, Rosaria Leante, Gianna Costa, Tiziana Biagioli, Luca Massacesi, Elena Bazzigaluppi, Raffaella Fazio, Sara Mariotto, Sergio Ferrari, Elisabetta Galloni, Francesco Perini, Elisabetta Zardini, Luigi Zuliani, Marco Zoccarato, Bruno Giometto, Antonio Bertolotto

Published in: Neurological Sciences | Special Issue 2/2017

Login to get access

Abstract

This document presents the guidelines for anti-aquaporin-4 (AQP4) antibody testing that has been developed following a consensus process built on questionnaire-based surveys, internet contacts, and discussions at workshops of the sponsoring Italian Association of Neuroimmunology (AINI) congresses. Essential clinical information on neuromyelitis optica spectrum disorders, indications and limits of anti-AQP4 antibody testing, instructions for result interpretation, and an agreed laboratory protocol (Appendix) are reported for the communicative community of neurologists and clinical pathologists.
Appendix
Available only for authorised users
Literature
1.
go back to reference Wingerchuk DM, Banwell B, Bennett JL et al (2015) International consensus diagnostic criteria for neuromyelitis optica spectrum disorders. Neurology 85:177–189CrossRefPubMedPubMedCentral Wingerchuk DM, Banwell B, Bennett JL et al (2015) International consensus diagnostic criteria for neuromyelitis optica spectrum disorders. Neurology 85:177–189CrossRefPubMedPubMedCentral
2.
3.
go back to reference Takeshita Y, Obermeier B, Cotleur AC et al (2016) Effects of neuromyelitis optica-IgG at the blood-brain barrier in vitro. Neurol Neuroimmunol Neuroinflamm 4:e311CrossRefPubMedPubMedCentral Takeshita Y, Obermeier B, Cotleur AC et al (2016) Effects of neuromyelitis optica-IgG at the blood-brain barrier in vitro. Neurol Neuroimmunol Neuroinflamm 4:e311CrossRefPubMedPubMedCentral
5.
go back to reference Lennon VA, Wingerchuk DM, Kryzer TJ et al (2004) A serum autoantibody marker of neuromyelitis optica: distinction from multiple sclerosis. Lancet 364:2106–2112CrossRefPubMed Lennon VA, Wingerchuk DM, Kryzer TJ et al (2004) A serum autoantibody marker of neuromyelitis optica: distinction from multiple sclerosis. Lancet 364:2106–2112CrossRefPubMed
6.
go back to reference Lennon VA, Kryzer TJ, Pittock SJ, Verkman AS, Hinson SR (2005) IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel. J Exp Med 202:473–477CrossRefPubMedPubMedCentral Lennon VA, Kryzer TJ, Pittock SJ, Verkman AS, Hinson SR (2005) IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel. J Exp Med 202:473–477CrossRefPubMedPubMedCentral
7.
go back to reference Wingerchuk DM, Lennon VA, Lucchinetti CF, Pittock SJ, Weinshenker BG (2007) The spectrum of neuromyelitis optica. Lancet Neurol 6:805–815CrossRefPubMed Wingerchuk DM, Lennon VA, Lucchinetti CF, Pittock SJ, Weinshenker BG (2007) The spectrum of neuromyelitis optica. Lancet Neurol 6:805–815CrossRefPubMed
8.
go back to reference Sato DK, Callegaro D, Lana-Peixoto MA et al (2014) Distinction between MOG antibody-positive and AQP4 antibody-positive NMO spectrum disorders. Neurology 82:474–481CrossRefPubMedPubMedCentral Sato DK, Callegaro D, Lana-Peixoto MA et al (2014) Distinction between MOG antibody-positive and AQP4 antibody-positive NMO spectrum disorders. Neurology 82:474–481CrossRefPubMedPubMedCentral
9.
10.
go back to reference Jarius S, Ruprecht K, Wildemann B et al (2012) Contrasting disease patterns in seropositive and seronegative neuromyelitis optica: a multicentre study of 175 patients. J Neuroinflammation 9:14CrossRefPubMedPubMedCentral Jarius S, Ruprecht K, Wildemann B et al (2012) Contrasting disease patterns in seropositive and seronegative neuromyelitis optica: a multicentre study of 175 patients. J Neuroinflammation 9:14CrossRefPubMedPubMedCentral
11.
go back to reference Kleiter I, Gahlen A, Borisow N et al (2016) Neuromyelitis optica: evaluation of 871 attacks and 1,153 treatment courses. Ann Neurol 79:206–216CrossRefPubMed Kleiter I, Gahlen A, Borisow N et al (2016) Neuromyelitis optica: evaluation of 871 attacks and 1,153 treatment courses. Ann Neurol 79:206–216CrossRefPubMed
12.
go back to reference Lechner C, Baumann M, Hennes EM et al (2016) Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease. J Neurol Neurosurg Psychiatry 87:897–905CrossRefPubMed Lechner C, Baumann M, Hennes EM et al (2016) Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease. J Neurol Neurosurg Psychiatry 87:897–905CrossRefPubMed
13.
go back to reference van Pelt ED, Wong YY, Ketelslegers IA, Hamann D, Hintzen RQ (2016) Neuromyelitis optica spectrum disorders: comparison of clinical and magnetic resonance imaging characteristics of AQP4-IgG versus MOG-IgG seropositive cases in the Netherlands. Eur J Neurol 23:580–587CrossRefPubMed van Pelt ED, Wong YY, Ketelslegers IA, Hamann D, Hintzen RQ (2016) Neuromyelitis optica spectrum disorders: comparison of clinical and magnetic resonance imaging characteristics of AQP4-IgG versus MOG-IgG seropositive cases in the Netherlands. Eur J Neurol 23:580–587CrossRefPubMed
14.
go back to reference Jarius S, Paul F, Franciotta D et al (2012) Neuromyelitis optica spectrum disorders in patients with myasthenia gravis: ten new aquaporin-4 antibody positive cases and a review of the literature. Mult Scler 18:1135–1143CrossRefPubMed Jarius S, Paul F, Franciotta D et al (2012) Neuromyelitis optica spectrum disorders in patients with myasthenia gravis: ten new aquaporin-4 antibody positive cases and a review of the literature. Mult Scler 18:1135–1143CrossRefPubMed
15.
go back to reference Jarius S, Jacobi C, de Seze J et al (2011) Frequency and syndrome specificity of antibodies to aquaporin-4 in neurological patients with rheumatic disorders. Mult Scler 17:1067–1073CrossRefPubMed Jarius S, Jacobi C, de Seze J et al (2011) Frequency and syndrome specificity of antibodies to aquaporin-4 in neurological patients with rheumatic disorders. Mult Scler 17:1067–1073CrossRefPubMed
16.
go back to reference Pittock SJ, Lennon VA (2008) Aquaporin-4 autoantibodies in a paraneoplastic context. Arch Neurol 65:629–632PubMed Pittock SJ, Lennon VA (2008) Aquaporin-4 autoantibodies in a paraneoplastic context. Arch Neurol 65:629–632PubMed
17.
go back to reference Kitley J, Waters P, Woodhall M et al (2014) Neuromyelitis optica spectrum disorders with aquaporin-4 and myelin-oligodendrocyte glycoprotein antibodies: a comparative study. JAMA Neurol 71:276–283CrossRefPubMed Kitley J, Waters P, Woodhall M et al (2014) Neuromyelitis optica spectrum disorders with aquaporin-4 and myelin-oligodendrocyte glycoprotein antibodies: a comparative study. JAMA Neurol 71:276–283CrossRefPubMed
18.
go back to reference Majed M, Fryer JP, McKeon A, Lennon VA, Pittock SJ (2016) Clinical utility of testing AQP4-IgG in CSF: guidance for physicians. Neurol Neuroimmunol Neuroinflamm 3:e231CrossRefPubMedPubMedCentral Majed M, Fryer JP, McKeon A, Lennon VA, Pittock SJ (2016) Clinical utility of testing AQP4-IgG in CSF: guidance for physicians. Neurol Neuroimmunol Neuroinflamm 3:e231CrossRefPubMedPubMedCentral
19.
go back to reference Marignier R, Bernard-Valnet R, Giraudon P et al (2013) Aquaporin-4 antibody-negative neuromyelitis optica: distinct assay sensitivity-dependent entity. Neurology 80:2194–2200CrossRefPubMed Marignier R, Bernard-Valnet R, Giraudon P et al (2013) Aquaporin-4 antibody-negative neuromyelitis optica: distinct assay sensitivity-dependent entity. Neurology 80:2194–2200CrossRefPubMed
20.
go back to reference Jarius S, Paul F, Franciotta D et al (2011) Cerebrospinal fluid findings in aquaporin-4 antibody positive neuromyelitis optica: results from 211 lumbar punctures. J Neurol Sci 306:82–90CrossRefPubMed Jarius S, Paul F, Franciotta D et al (2011) Cerebrospinal fluid findings in aquaporin-4 antibody positive neuromyelitis optica: results from 211 lumbar punctures. J Neurol Sci 306:82–90CrossRefPubMed
21.
22.
go back to reference Pisani F, Sparaneo A, Tortorella C et al (2013) Aquaporin-4 autoantibodies in neuromyelitis optica: AQP4 isoform-dependent sensitivity and specificity. PLoS One 8:e79185CrossRefPubMedPubMedCentral Pisani F, Sparaneo A, Tortorella C et al (2013) Aquaporin-4 autoantibodies in neuromyelitis optica: AQP4 isoform-dependent sensitivity and specificity. PLoS One 8:e79185CrossRefPubMedPubMedCentral
23.
go back to reference Jarius S, Wildemann B (2013) Aquaporin-4 antibodies (NMO-IgG) as a serological marker of neuromyelitis optica: a critical review of the literature. Brain Pathol 23:661–683CrossRefPubMed Jarius S, Wildemann B (2013) Aquaporin-4 antibodies (NMO-IgG) as a serological marker of neuromyelitis optica: a critical review of the literature. Brain Pathol 23:661–683CrossRefPubMed
24.
go back to reference Nicchia GP, Mastrototaro M, Rossi A et al (2009) Aquaporin-4 orthogonal arrays of particles are the target for neuromyelitis optica autoantibodies. Glia 57:1363–1373CrossRefPubMed Nicchia GP, Mastrototaro M, Rossi A et al (2009) Aquaporin-4 orthogonal arrays of particles are the target for neuromyelitis optica autoantibodies. Glia 57:1363–1373CrossRefPubMed
25.
go back to reference Rossi A, Pisani F, Nicchia GP et al (2010) Evidences for a leaky scanning mechanism for the synthesis of the shorter M23 protein isoform of aquaporin-4: implication in orthogonal array formation and neuromyelitis optica antibody interaction. J Biol Chem 285:4562–4569CrossRefPubMed Rossi A, Pisani F, Nicchia GP et al (2010) Evidences for a leaky scanning mechanism for the synthesis of the shorter M23 protein isoform of aquaporin-4: implication in orthogonal array formation and neuromyelitis optica antibody interaction. J Biol Chem 285:4562–4569CrossRefPubMed
26.
go back to reference Jarius S, Paul F, Fechner K et al (2014) Aquaporin-4 antibody testing: direct comparison of M1-AQP4-DNA-transfected cells with leaky scanning versus M23-AQP4-DNA-transfected cells as antigenic substrate. J Neuroinflammation 11:129CrossRefPubMedPubMedCentral Jarius S, Paul F, Fechner K et al (2014) Aquaporin-4 antibody testing: direct comparison of M1-AQP4-DNA-transfected cells with leaky scanning versus M23-AQP4-DNA-transfected cells as antigenic substrate. J Neuroinflammation 11:129CrossRefPubMedPubMedCentral
27.
go back to reference Fryer JP, Lennon VA, Pittock SJ et al (2014) AQP4 autoantibody assay performance in clinical laboratory service. Neurol Neuroimmunol Neuroinflamm 1:e11CrossRefPubMedPubMedCentral Fryer JP, Lennon VA, Pittock SJ et al (2014) AQP4 autoantibody assay performance in clinical laboratory service. Neurol Neuroimmunol Neuroinflamm 1:e11CrossRefPubMedPubMedCentral
28.
go back to reference Waters P, Reindl M, Saiz A et al (2016) Multicentre comparison of a diagnostic assay: aquaporin-4 antibodies in neuromyelitis optica. J Neurol Neurosurg Psychiatry 87:1005–1015CrossRefPubMedPubMedCentral Waters P, Reindl M, Saiz A et al (2016) Multicentre comparison of a diagnostic assay: aquaporin-4 antibodies in neuromyelitis optica. J Neurol Neurosurg Psychiatry 87:1005–1015CrossRefPubMedPubMedCentral
29.
30.
go back to reference Valentino P, Marnetto F, Granieri L, Capobianco M, Bertolotto A (2017) Aquaporin-4 antibody titration in NMO patients treated with rituximab: a retrospective study. Neurol Neuroimmunol Neuroinflamm 4:e317CrossRefPubMed Valentino P, Marnetto F, Granieri L, Capobianco M, Bertolotto A (2017) Aquaporin-4 antibody titration in NMO patients treated with rituximab: a retrospective study. Neurol Neuroimmunol Neuroinflamm 4:e317CrossRefPubMed
31.
go back to reference Karasawa R, Yudoh K, Ozaki S, Kato T (2011) Anti-endothelial cell antibodies (AECA) in patients with systemic vasculitis: our research using proteomics. Expert Opin Biol Ther 11:77–87CrossRefPubMed Karasawa R, Yudoh K, Ozaki S, Kato T (2011) Anti-endothelial cell antibodies (AECA) in patients with systemic vasculitis: our research using proteomics. Expert Opin Biol Ther 11:77–87CrossRefPubMed
Metadata
Title
Diagnostics of the neuromyelitis optica spectrum disorders (NMOSD)
Authors
Diego Franciotta
Matteo Gastaldi
Arianna Sala
Francesca Andreetta
Elena Rinaldi
Maddalena Ruggieri
Rosaria Leante
Gianna Costa
Tiziana Biagioli
Luca Massacesi
Elena Bazzigaluppi
Raffaella Fazio
Sara Mariotto
Sergio Ferrari
Elisabetta Galloni
Francesco Perini
Elisabetta Zardini
Luigi Zuliani
Marco Zoccarato
Bruno Giometto
Antonio Bertolotto
Publication date
01-10-2017
Publisher
Springer Milan
Published in
Neurological Sciences / Issue Special Issue 2/2017
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-017-3027-1

Other articles of this Special Issue 2/2017

Neurological Sciences 2/2017 Go to the issue