Abstract
Neuromyelitis optica (NMO) is an inflammatory disorder of the central nervous system (CNS) characterized by optic neuritis and transverse myelitis. NMO is also known as Devic’s disease, after a case report by French neurologist Eugène Devic and his colleagues in the late nineteenth century. NMO has been considered a variant of multiple sclerosis (MS) and called opticospinal MS in Japan, where its prevalence is much higher than in Western countries. In 2004 however, an autoantibody, NMO-IgG (anti-aquaporin 4 antibody), was detected in the serum of patients with NMO, but not in patients with MS, indicating that NMO is independent of MS.
Recent studies of NMO have contributed to a growing understanding of the disease that includes NMO spectrum disorders (NMOSD). In this chapter, we describe the clinical and laboratory characteristics of NMO/NMOSD and their treatments. While corticosteroids and/or plasmapheresis are treatments for NMO/NMOSD, novel therapeutic approaches are being developed through research elucidating the pathomechanisms of NMO.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Lennon VA, Wingerchuk DM, Kryzer TJ, et al. A serum autoantibody marker of neuromyelitis optica: distinction from multiple sclerosis. Lancet. 2004;364:2106–12.
Lennon VA, Kryzer TJ, Pittock SJ, et al. IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel. J Exp Med. 2005;202:473–7.
Khanna S, Sharma A, Huecker J, et al. Magnetic resonance imaging of optic neuritis in patients with neuromyelitis optica versus multiple sclerosis. J Neuroophthalmol. 2012;32:216–20.
Wingerchuk DM, Weinshenker BG. The natural history of multiple sclerosis: implications for trial design. Curr Opin Neurol. 1999;12:345–9.
Kitley J, Leite MI, Nakashima I, et al. Prognostic factors and disease course in aquaporin-4 antibody-positive patients with neuromyelitis optica spectrum disorder from the United Kingdom and Japan. Brain. 2012;135:1834–49.
Tackley G, Kuker W, Palace J. Magnetic resonance imaging in neuromyelitis optica Mult Scler. 2014; 20(9):1153–64.
Kiyat-Atamer A, Ekizoglu E, Tuzun E, et al. Long-term MRI findings in neuromyelitis optica: seropositive versus seronegative patients. Eur J Neurol. 2013;20:781–7.
Asgari N, Skejoe HP, Lillevang ST, et al. Modifications of longitudinally extensive transverse myelitis and brainstem lesions in the course of neuromyelitis optica (NMO): a population-based, descriptive study. BMC Neurol. 2013;13:33.
Lim BC, Hwang H, Kim KJ, et al. Relapsing demyelinating CNS disease in a Korean pediatric population: multiple sclerosis versus neuromyelitis optica. Mult Scler. 2011;17:67–73.
Matthews L, Marasco R, Jenkinson M, et al. Distinction of seropositive NMO spectrum disorder and MS brain lesion distribution. Neurology. 2013;80:1330–7.
Pittock SJ, Weinshenker BG, Lucchinetti CF, et al. Neuromyelitis optica brain lesions localized at sites of high aquaporin 4 expression. Arch Neurol. 2006;63:964–8.
Paty DW, Oger JJ, Kastrukoff LF, et al. MRI in the diagnosis of MS: a prospective study with comparison of clinical evaluation, evoked potentials, oligoclonal banding, and CT. Neurology. 1988;38:180–5.
Matsushita T, Isobe N, Matsuoka T, et al. Extensive vasogenic edema of anti-aquaporin-4 antibody-related brain lesions. Mult Scler. 2009;15:1113–7.
Ito S, Mori M, Makino T, et al. “Cloud-like enhancement” is a magnetic resonance imaging abnormality specific to neuromyelitis optica. Ann Neurol. 2009;66:425–8.
Saji E, Arakawa M, Yanagawa K, et al. Cognitive impairment and cortical degeneration in neuromyelitis optica. Ann Neurol. 2013;73:65–76.
Wingerchuk DM. Neuromyelitis optica: effect of gender. J Neurol Sci. 2009;286:18–23.
Wingerchuk DM, Lennon VA, Lucchinetti CF, et al. The spectrum of neuromyelitis optica. Lancet Neurol. 2007;6:805–15.
Freitas E, Guimaraes J. Neuromyelitis optica spectrum disorders associated with other autoimmune diseases. Rheumatol Int. 2015;35(2):243–53
Jarius S, Paul F, Franciotta D, et al. Cerebrospinal fluid findings in aquaporin-4 antibody positive neuromyelitis optica: results from 211 lumbar punctures. J Neurol Sci. 2011;306:82–90.
Ishizu T, Osoegawa M, Mei FJ, et al. Intrathecal activation of the IL-17/IL-8 axis in opticospinal multiple sclerosis. Brain. 2005;128:988–1002.
Uzawa A, Mori M, Arai K, et al. Cytokine and chemokine profiles in neuromyelitis optica: significance of interleukin-6. Mult Scler. 2010;16:1443–52.
Jarius S, Probst C, Borowski K, et al. Standardized method for the detection of antibodies to aquaporin-4 based on a highly sensitive immunofluorescence assay employing recombinant target antigen. J Neurol Sci. 2010;291:52–6.
Kim W, Lee JE, Li XF, et al. Quantitative measurement of anti-aquaporin-4 antibodies by enzyme-linked immunosorbent assay using purified recombinant human aquaporin-4. Mult Scler. 2012;18:578–86.
Nagaishi A, Takagi M, Umemura A, et al. Clinical features of neuromyelitis optica in a large Japanese cohort: comparison between phenotypes. J Neurol Neurosurg Psychiatry. 2011;82:1360–4.
Takahashi T, Fujihara K, Nakashima I, et al. Establishment of a new sensitive assay for anti-human aquaporin-4 antibody in neuromyelitis optica. Tohoku J Exp Med. 2006;210:307–13.
Waters PJ, McKeon A, Leite MI, et al. Serologic diagnosis of NMO: a multicenter comparison of aquaporin-4-IgG assays. Neurology. 2012;78:665–71; discussion 669.
Siritho S, Apiwattanakul M, Nakashima I, et al. Features of anti-aquaporin 4 antibody-seronegative Thai patients with neuromyelitis optica spectrum disorders: a comparison with seropositive cases. J Neurol Sci. 2014;341:17–21.
Takahashi T, Fujihara K, Nakashima I, et al. Anti-aquaporin-4 antibody is involved in the pathogenesis of NMO: a study on antibody titre. Brain. 2007;130:1235–43.
Wingerchuk DM, Lennon VA, Pittock SJ, et al. Revised diagnostic criteria for neuromyelitis optica. Neurology. 2006;66:1485–9.
Sato DK, Callegaro D, Lana-Peixoto MA, et al. Distinction between MOG antibody-positive and AQP4 antibody-positive NMO spectrum disorders. Neurology. 2014;82:474–81.
Tobin WO, Weinshenker BG, Lucchinetti CF. Longitudinally extensive transverse myelitis. Curr Opin Neurol. 2014;27:279–89.
Bakker J, Metz L. Devic’s neuromyelitis optica treated with intravenous gamma globulin (IVIG). Can J Neurol Sci J Can Sci Neurol. 2004;31:265–7.
Nozaki I, Hamaguchi T, Komai K, et al. Fulminant Devic disease successfully treated by lymphocytapheresis. J Neurol Neurosurg Psychiatry. 2006;77:1094–5.
Kira J, Yamasaki R, Yoshimura S, et al. Efficacy of methylprednisolone pulse therapy for acute relapse in Japanese patients with multiple sclerosis and neuromyelitis optica: a multicenter retrospective analysis – 1. Whole group analysis. Clin Exp Neuroimmunol. 2013;4:305–17.
Bonnan M, Cabre P. Plasma exchange in severe attacks of neuromyelitis optica. Mult Scler Int. 2012;2012:787630.
Keegan M, Pineda AA, McClelland RL, et al. Plasma exchange for severe attacks of CNS demyelination: predictors of response. Neurology. 2002;58:143–6.
Kim SH, Kim W, Huh SY, et al. Clinical efficacy of plasmapheresis in patients with neuromyelitis optica spectrum disorder and effects on circulating anti-aquaporin-4 antibody levels. J Clin Neurol. 2013;9:36–42.
Yoshida H, Ando A, Sho K, et al. Anti-aquaporin-4 antibody-positive optic neuritis treated with double-filtration plasmapheresis. J Ocul Pharmacol Therapeut. 2010;26:381–5.
Kobayashi M, Nanri K, Taguchi T, et al. Immunoadsorption therapy for neuromyelitis optica spectrum disorders long after the acute phase. J Clin Apher. 2015;30(1):43–5.
Szczepiorkowski ZM, Winters JL, Bandarenko N, et al. Guidelines on the use of therapeutic apheresis in clinical practice – evidence-based approach from the Apheresis Applications Committee of the American Society for Apheresis. J Clin Apher. 2010;25:83–177.
Merle H, Olindo S, Jeannin S, et al. Treatment of optic neuritis by plasma exchange (add-on) in neuromyelitis optica. Arch Ophthalmol. 2012;130:858–62.
Bonnan M, Valentino R, Olindo S, et al. Plasma exchange in severe spinal attacks associated with neuromyelitis optica spectrum disorder. Mult Scler. 2009;15:487–92.
Wingerchuk DM. Neuromyelitis optica: potential roles for intravenous immunoglobulin. J Clin Immunol. 2013;33 Suppl 1:S33–7.
Yaguchi H, Sakushima K, Takahashi I, et al. Efficacy of intravenous cyclophosphamide therapy for neuromyelitis optica spectrum disorder. Intern Med. 2013;52:969–72.
Greenberg BM, Thomas KP, Krishnan C, et al. Idiopathic transverse myelitis: corticosteroids, plasma exchange, or cyclophosphamide. Neurology. 2007;68:1614–7.
Watanabe S, Misu T, Miyazawa I, et al. Low-dose corticosteroids reduce relapses in neuromyelitis optica: a retrospective analysis. Mult Scler. 2007;13:968–74.
Costanzi C, Matiello M, Lucchinetti CF, et al. Azathioprine: tolerability, efficacy, and predictors of benefit in neuromyelitis optica. Neurology. 2011;77:659–66.
Kowarik MC, Soltys J, Bennett JL. The treatment of neuromyelitis optica. J Neuroophthalmol. 2014;34:70–82.
Jacob A, Matiello M, Weinshenker BG, et al. Treatment of neuromyelitis optica with mycophenolate mofetil: retrospective analysis of 24 patients. Arch Neurol. 2009;66:1128–33.
Kitley J, Elsone L, George J, et al. Methotrexate is an alternative to azathioprine in neuromyelitis optica spectrum disorders with aquaporin-4 antibodies. J Neurol Neurosurg Psychiatry. 2013;84:918–21.
Bichuetti DB, Oliveira EM, Boulos Fde C, et al. Lack of response to pulse cyclophosphamide in neuromyelitis optica: evaluation of 7 patients. Arch Neurol. 2012;69:938–9.
Kim SH, Kim W, Park MS, et al. Efficacy and safety of mitoxantrone in patients with highly relapsing neuromyelitis optica. Arch Neurol. 2011;68:473–9.
Miyamoto K, Kusunoki S. Intermittent plasmapheresis prevents recurrence in neuromyelitis optica. Therapeut Apher Dial. 2009;13:505–8.
Barnett MH, Prineas JW, Buckland ME, et al. Massive astrocyte destruction in neuromyelitis optica despite natalizumab therapy. Mult Scler. 2012;18:108–12.
Shimizu J, Hatanaka Y, Hasegawa M, et al. IFNbeta-1b may severely exacerbate Japanese optic-spinal MS in neuromyelitis optica spectrum. Neurology. 2010;75:1423–7.
Warabi Y, Matsumoto Y, Hayashi H. Interferon beta-1b exacerbates multiple sclerosis with severe optic nerve and spinal cord demyelination. J Neurol Sci. 2007;252:57–61.
Kim SH, Kim W, Li XF, et al. Does interferon beta treatment exacerbate neuromyelitis optica spectrum disorder? Mult Scler. 2012;18:1480–3.
Palace J, Leite MI, Nairne A, et al. Interferon Beta treatment in neuromyelitis optica: increase in relapses and aquaporin 4 antibody titers. Arch Neurol. 2010;67:1016–7.
Kleiter I, Hellwig K, Berthele A, et al. Failure of natalizumab to prevent relapses in neuromyelitis optica. Arch Neurol. 2012;69:239–45.
Min JH, Kim BJ, Lee KH. Development of extensive brain lesions following fingolimod (FTY720) treatment in a patient with neuromyelitis optica spectrum disorder. Mult Scler. 2012;18:113–5.
Cree BA, Lamb S, Morgan K, et al. An open label study of the effects of rituximab in neuromyelitis optica. Neurology. 2005;64:1270–2.
Greenberg BM, Graves D, Remington G, et al. Rituximab dosing and monitoring strategies in neuromyelitis optica patients: creating strategies for therapeutic success. Mult Scler. 2012;18:1022–6.
Jacob A, Weinshenker BG, Violich I, et al. Treatment of neuromyelitis optica with rituximab: retrospective analysis of 25 patients. Arch Neurol. 2008;65:1443–8.
Kim SH, Kim W, Li XF, et al. Repeated treatment with rituximab based on the assessment of peripheral circulating memory B cells in patients with relapsing neuromyelitis optica over 2 years. Arch Neurol. 2011;68:1412–20.
Bedi GS, Brown AD, Delgado SR, et al. Impact of rituximab on relapse rate and disability in neuromyelitis optica. Mult Scler. 2011;17:1225–30.
Kim SH, Huh SY, Lee SJ, et al. A 5-year follow-up of rituximab treatment in patients with neuromyelitis optica spectrum disorder. JAMA Neurol. 2013;70:1110–7.
Jarius S, Aboul-Enein F, Waters P, et al. Antibody to aquaporin-4 in the long-term course of neuromyelitis optica. Brain. 2008;131:3072–80.
Pellkofer HL, Krumbholz M, Berthele A, et al. Long-term follow-up of patients with neuromyelitis optica after repeated therapy with rituximab. Neurology. 2011;76:1310–5.
Carson KR, Focosi D, Major EO, et al. Monoclonal antibody-associated progressive multifocal leucoencephalopathy in patients treated with rituximab, natalizumab, and efalizumab: a review from the Research on Adverse Drug Events and Reports (RADAR) Project. Lancet Oncol. 2009;10:816–24.
Uzawa A, Mori M, Sawai S, et al. Cerebrospinal fluid interleukin-6 and glial fibrillary acidic protein levels are increased during initial neuromyelitis optica attacks. Clin Chim Acta. 2013;421:181–3.
Wang H, Wang K, Zhong X, et al. Notable increased cerebrospinal fluid levels of soluble interleukin-6 receptors in neuromyelitis optica. Neuroimmunomodulation. 2012;19:304–8.
Chihara N, Aranami T, Oki S, et al. Plasmablasts as migratory IgG-producing cells in the pathogenesis of neuromyelitis optica. PLoS ONE. 2013;8, e83036.
Chihara N, Aranami T, Sato W, et al. Interleukin 6 signaling promotes anti-aquaporin 4 autoantibody production from plasmablasts in neuromyelitis optica. Proc Natl Acad Sci U S A. 2011;108:3701–6.
Araki M, Aranami T, Matsuoka T, et al. Clinical improvement in a patient with neuromyelitis optica following therapy with the anti-IL-6 receptor monoclonal antibody tocilizumab. Mod Rheumatol Jpn Rheum Assoc. 2013;23:827–31.
Ayzenberg I, Kleiter I, Schroder A, et al. Interleukin 6 receptor blockade in patients with neuromyelitis optica nonresponsive to anti-CD20 therapy. JAMA Neurol. 2013;70:394–7.
Kieseier BC, Stuve O, Dehmel T, et al. Disease amelioration with tocilizumab in a treatment-resistant patient with neuromyelitis optica: implication for cellular immune responses. JAMA Neurol. 2013;70:390–3.
Komai T, Shoda H, Yamaguchi K, et al. Neuromyelitis optica spectrum disorder complicated with Sjogren syndrome successfully treated with tocilizumab: a case report. Mod Rheumatol. 2016;26(2):294–6.
Kinoshita M, Nakatsuji Y, Moriya M, et al. Astrocytic necrosis is induced by anti-aquaporin-4 antibody-positive serum. Neuroreport. 2009;20:508–12.
Saadoun S, Waters P, Bell BA, et al. Intra-cerebral injection of neuromyelitis optica immunoglobulin G and human complement produces neuromyelitis optica lesions in mice. Brain. 2010;133:349–61.
Zhang H, Bennett JL, Verkman AS. Ex vivo spinal cord slice model of neuromyelitis optica reveals novel immunopathogenic mechanisms. Ann Neurol. 2011;70:943–54.
Pittock SJ, Lennon VA, McKeon A, et al. Eculizumab in AQP4-IgG-positive relapsing neuromyelitis optica spectrum disorders: an open-label pilot study. Lancet Neurol. 2013;12:554–62.
Feasby T, Banwell B, Benstead T, et al. Guidelines on the use of intravenous immune globulin for neurologic conditions. Transfus Med Rev. 2007;21:S57–107.
Jacob S, Rajabally YA. Current proposed mechanisms of action of intravenous immunoglobulins in inflammatory neuropathies. Curr Neuropharmacol. 2009;7:337–42.
Elsone L, Panicker J, Mutch K, et al. Role of intravenous immunoglobulin in the treatment of acute relapses of neuromyelitis optica: experience in 10 patients. Mult Scler. 2014;20:501–4.
Okada K, Tsuji S, Tanaka K. Intermittent intravenous immunoglobulin successfully prevents relapses of neuromyelitis optica. Intern Med. 2007;46:1671–2.
Magraner MJ, Coret F, Casanova B. The effect of intravenous immunoglobulin on neuromyelitis optica. Neurologia. 2013;28:65–72.
Ratelade J, Smith AJ, Verkman AS. Human immunoglobulin G reduces the pathogenicity of aquaporin-4 autoantibodies in neuromyelitis optica. Exp Neurol. 2014;255:145–53.
Saadoun S, Waters P, MacDonald C, et al. Neutrophil protease inhibition reduces neuromyelitis optica-immunoglobulin G-induced damage in mouse brain. Ann Neurol. 2012;71:323–33.
Young RE, Thompson RD, Larbi KY, et al. Neutrophil elastase (NE)-deficient mice demonstrate a nonredundant role for NE in neutrophil migration, generation of proinflammatory mediators, and phagocytosis in response to zymosan particles in vivo. J Immunol. 2004;172:4493–502.
Tradtrantip L, Zhang H, Saadoun S, et al. Anti-aquaporin-4 monoclonal antibody blocker therapy for neuromyelitis optica. Ann Neurol. 2012;71:314–22.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2016 Springer Japan
About this chapter
Cite this chapter
Nakatsuji, Y. et al. (2016). Neuromyelitis Optica: Diagnosis and Treatment. In: Kusunoki, S. (eds) Neuroimmunological Diseases. Springer, Tokyo. https://doi.org/10.1007/978-4-431-55594-0_8
Download citation
DOI: https://doi.org/10.1007/978-4-431-55594-0_8
Published:
Publisher Name: Springer, Tokyo
Print ISBN: 978-4-431-55593-3
Online ISBN: 978-4-431-55594-0
eBook Packages: MedicineMedicine (R0)