Autoantibodies Against the Node of Ranvier in Seropositive Chronic Inflammatory Demyelinating Polyneuropathy: Diagnostic, Pathogenic, and Therapeutic Relevance

Atay Vural1,2, Kathrin Doppler3, Edgar Meinl1
1Institute of Clinical Neuroimmunology, Biomedical Center, University Hospitals, Ludwig-Maximilians-Universität München, Planegg-Martinsried, Germany
2Research Center for Translational Medicine, Koç University, Istanbul, Turkey
3Department of Neurology, University Hospital Würzburg, Würzburg, Germany

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Salzer, 2003, Polarized domains of myelinated axons, Neuron, 40, 297, 10.1016/S0896-6273(03)00628-7

Salzer, 2008, Molecular domains of myelinated axons in the peripheral nervous system, Glia, 56, 1532, 10.1002/glia.20750

Faivre-Sarrailh, 2013, Neuro-glial interactions at the nodes of Ranvier: implication in health and diseases, Front Cell Neurosci, 7, 196, 10.3389/fncel.2013.00196

Rasband, 2015, The nodes of Ranvier: molecular assembly and maintenance, Cold Spring Harb Perspect Biol, 8, a020495, 10.1101/cshperspect.a020495

Stathopoulos, 2015, Autoimmune antigenic targets at the node of Ranvier in demyelinating disorders, Nat Rev Neurol, 11, 143, 10.1038/nrneurol.2014.260

Querol, 2017, Autoantibodies in chronic inflammatory neuropathies: diagnostic and therapeutic implications, Nat Rev Neurol, 13, 533, 10.1038/nrneurol.2017.84

Hill, 2008, Ion channel clustering at the axon initial segment and node of Ranvier evolved sequentially in early chordates, PLoS Genet, 4, e1000317, 10.1371/journal.pgen.1000317

Susuki, 2016, Activity-dependent regulation of excitable axonal domains, J Physiol Sci, 66, 99, 10.1007/s12576-015-0413-4

Nelson, 2017, Axonal membranes and their domains: assembly and function of the axon initial segment and node of Ranvier, Front Cell Neurosci, 11, 136, 10.3389/fncel.2017.00136

Leterrier, 2015, Nanoscale architecture of the axon initial segment reveals an organized and robust scaffold, Cell Rep, 13, 2781, 10.1016/j.celrep.2015.11.051

D’Este, 2017, Ultrastructural anatomy of nodes of Ranvier in the peripheral nervous system as revealed by STED microscopy, Proc Natl Acad Sci U S A, 114, E191, 10.1073/pnas.1619553114

Zhang, 2016, Cytoskeletal control of axon domain assembly and function, Curr Opin Neurobiol, 39, 116, 10.1016/j.conb.2016.05.001

Berthold, 1993, Axoplasmic organelles at nodes of Ranvier. I. Occurrence and distribution in large myelinated spinal root axons of the adult cat, J Neurocytol, 22, 925, 10.1007/BF01218351

Armstrong, 1987, Axonal transport through nodes of Ranvier, Brain Res, 412, 196, 10.1016/0006-8993(87)91461-2

Davis, 1996, Molecular composition of the node of Ranvier: identification of ankyrin-binding cell adhesion molecules neurofascin (mucin+/third FNIII domain-) and NrCAM at nodal axon segments, J Cell Biol, 135, 1355, 10.1083/jcb.135.5.1355

Berghs, 2000, betaIV spectrin, a new spectrin localized at axon initial segments and nodes of ranvier in the central and peripheral nervous system, J Cell Biol, 151, 985, 10.1083/jcb.151.5.985

Rasband, 2010, The axon initial segment and the maintenance of neuronal polarity, Nat Rev Neurosci, 11, 552, 10.1038/nrn2852

Rosenbluth, 2009, Multiple functions of the paranodal junction of myelinated nerve fibers, J Neurosci Res, 87, 3250, 10.1002/jnr.22013

Mierzwa, 2010, Permeability of the paranodal junction of myelinated nerve fibers, J Neurosci, 30, 15962, 10.1523/JNEUROSCI.4047-10.2010

Morell, 1984, Myelin, 10.1007/978-1-4757-1830-0

Charles, 2002, Neurofascin is a glial receptor for the paranodin/Caspr-contactin axonal complex at the axoglial junction, Curr Biol, 12, 217, 10.1016/S0960-9822(01)00680-7

Robertson, 1959, Preliminary observations on the ultrastructure of nodes of Ranvier, Cell Tissue Res, 50, 553

Liu, 2011, Homophilic adhesion mechanism of neurofascin, a member of the L1 family of neural cell adhesion molecules, J Biol Chem, 286, 797, 10.1074/jbc.M110.180281

Darbelli, 2016, Quaking regulates neurofascin 155 expression for myelin and axoglial junction maintenance, J Neurosci, 36, 4106, 10.1523/JNEUROSCI.3529-15.2016

Thaxton, 2010, In vivo deletion of immunoglobulin domains 5 and 6 in neurofascin (Nfasc) reveals domain-specific requirements in myelinated axons, J Neurosci, 30, 4868, 10.1523/JNEUROSCI.5951-09.2010

Susuki, 2016, Submembranous cytoskeletons stabilize nodes of Ranvier, Exp Neurol, 283, 446, 10.1016/j.expneurol.2015.11.012

Ng, 2012, Neurofascin as a target for autoantibodies in peripheral neuropathies, Neurology, 79, 2241, 10.1212/WNL.0b013e31827689ad

Devaux, 2016, Neurofascin-155 IgG4 in chronic inflammatory demyelinating polyneuropathy, Neurology, 86, 800, 10.1212/WNL.0000000000002418

Ren, 1998, Palmitoylation of neurofascin at a site in the membrane-spanning domain highly conserved among the L1 family of cell adhesion molecules, J Neurochem, 70, 1839, 10.1046/j.1471-4159.1998.70051839.x

Schafer, 2004, Does paranode formation and maintenance require partitioning of neurofascin 155 into lipid rafts?, J Neurosci, 24, 3176, 10.1523/JNEUROSCI.5427-03.2004

Hayashi, 2013, Sulfatide decrease in myelin influences formation of the paranodal axo-glial junction and conduction velocity in the sciatic nerve, Glia, 61, 466, 10.1002/glia.22447

Bonnon, 2003, The paranodal complex of F3/contactin and caspr/paranodin traffics to the cell surface via a non-conventional pathway, J Biol Chem, 278, 48339, 10.1074/jbc.M309120200

Peles, 1997, Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions, EMBO J, 16, 978, 10.1093/emboj/16.5.978

Horresh, 2010, Organization of myelinated axons by Caspr and Caspr2 requires the cytoskeletal adapter protein 4.1B, J Neurosci, 30, 2480, 10.1523/JNEUROSCI.5225-09.2010

Voas, 2007, alphaII-spectrin is essential for assembly of the nodes of Ranvier in myelinated axons, Curr Biol, 17, 562, 10.1016/j.cub.2007.01.071

Boyle, 2001, Contactin orchestrates assembly of the septate-like junctions at the paranode in myelinated peripheral nerve, Neuron, 30, 385, 10.1016/S0896-6273(01)00296-3

Rosenbluth, 2013, Molecular architecture of myelinated nerve fibers: leaky paranodal junctions and paranodal dysmyelination, Neuroscientist, 19, 629, 10.1177/1073858413504627

Pillai, 2009, Spatiotemporal ablation of myelinating glia-specific neurofascin (Nfasc NF155) in mice reveals gradual loss of paranodal axoglial junctions and concomitant disorganization of axonal domains, J Neurosci Res, 87, 1773, 10.1002/jnr.22015

Berglund, 1999, Ataxia and abnormal cerebellar microorganization in mice with ablated contactin gene expression, Neuron, 24, 739, 10.1016/S0896-6273(00)81126-5

Poliak, 1999, Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels, Neuron, 24, 1037, 10.1016/S0896-6273(00)81049-1

Horresh, 2008, Multiple molecular interactions determine the clustering of Caspr2 and Kv1 channels in myelinated axons, J Neurosci, 28, 14213, 10.1523/JNEUROSCI.3398-08.2008

Pinatel, 2015, Inhibitory axons are targeted in hippocampal cell culture by anti-Caspr2 autoantibodies associated with limbic encephalitis, Front Cell Neurosci, 9, 265, 10.3389/fncel.2015.00265

Feinberg, 2010, A glial signal consisting of gliomedin and NrCAM clusters axonal Na+ channels during the formation of nodes of Ranvier, Neuron, 65, 490, 10.1016/j.neuron.2010.02.004

Mathey, 2007, Neurofascin as a novel target for autoantibody-mediated axonal injury, J Exp Med, 204, 2363, 10.1084/jem.20071053

Querol, 2013, Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy, Ann Neurol, 73, 370, 10.1002/ana.23794

Doppler, 2016, Auto-antibodies to contactin-associated protein 1 (Caspr) in two patients with painful inflammatory neuropathy, Brain, 139, 2617, 10.1093/brain/aww189

Delmont, 2017, Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy, Brain, 140, 1851, 10.1093/brain/awx124

Prüss, 2011, Neurofascin as target of autoantibodies in Guillain-Barre syndrome, Brain, 134, e173; author reply e174, 10.1093/brain/awq372

Kawamura, 2013, Anti-neurofascin antibody in patients with combined central and peripheral demyelination, Neurology, 81, 714, 10.1212/WNL.0b013e3182a1aa9c

Querol, 2014, Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg, Neurology, 82, 879, 10.1212/WNL.0000000000000205

Notturno, 2014, Autoantibodies to neurofascin-186 and gliomedin in multifocal motor neuropathy, J Neuroimmunol, 276, 207, 10.1016/j.jneuroim.2014.09.001

Ogata, 2015, Characterization of IgG4 anti-neurofascin 155 antibody-positive polyneuropathy, Ann Clin Transl Neurol, 2, 960, 10.1002/acn3.248

Vural, 2016, Fulminant central plus peripheral nervous system demyelination without antibodies to neurofascin, Can J Neurol Sci, 43, 149, 10.1017/cjn.2015.238

Doppler, 2015, Destruction of paranodal architecture in inflammatory neuropathy with anti-contactin-1 autoantibodies, J Neurol Neurosurg Psychiatry, 86, 720, 10.1136/jnnp-2014-309916

Doppler, 2015, Contactin-1 and neurofascin-155/-186 are not targets of auto-antibodies in multifocal motor neuropathy, PLoS One, 10, e0134274, 10.1371/journal.pone.0134274

Miura, 2015, Contactin 1 IgG4 associates to chronic inflammatory demyelinating polyneuropathy with sensory ataxia, Brain, 138, 1484, 10.1093/brain/awv054

Cortese, 2016, Neurofascin-155 as a putative antigen in combined central and peripheral demyelination, Neurol Neuroimmunol Neuroinflamm, 3, e238, 10.1212/NXI.0000000000000238

Kadoya, 2016, IgG4 anti-neurofascin155 antibodies in chronic inflammatory demyelinating polyradiculoneuropathy: clinical significance and diagnostic utility of a conventional assay, J Neuroimmunol, 301, 16, 10.1016/j.jneuroim.2016.10.013

Mathey, 2017, Autoantibody responses to nodal and paranodal antigens in chronic inflammatory neuropathies, J Neuroimmunol, 309, 41, 10.1016/j.jneuroim.2017.05.002

Koike, 2017, Paranodal dissection in chronic inflammatory demyelinating polyneuropathy with anti-neurofascin-155 and anti-contactin-1 antibodies, J Neurol Neurosurg Psychiatry, 88, 465, 10.1136/jnnp-2016-314895

Garg, 2018, Neurofascin-155 IGG4 neuropathy: pathophysiological insights, spectrum of clinical severity and response to treatment, Muscle Nerve, 57, 848, 10.1002/mus.26010

Burnor, 2018, Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies, Neurology, 90, e31, 10.1212/WNL.0000000000004773

Devaux, 2012, Nodal proteins are target antigens in Guillain-Barre syndrome, J Peripher Nerv Syst, 17, 62, 10.1111/j.1529-8027.2012.00372.x

Zhang, 2015, Neurofascin 140 is an embryonic neuronal neurofascin isoform that promotes the assembly of the node of Ranvier, J Neurosci, 35, 2246, 10.1523/JNEUROSCI.3552-14.2015

Martinez-Martinez, 2017, Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15, J Neuroinflammation, 14, 224, 10.1186/s12974-017-0996-1

Franques, 2017, Teaching NeuroImages: cranial nerve hypertrophy in IgG4 anti-neurofascin 155 antibody-positive polyneuropathy, Neurology, 88, e52, 10.1212/WNL.0000000000003616

Ogata, 2016, A nationwide survey of combined central and peripheral demyelination in Japan, J Neurol Neurosurg Psychiatry, 87, 29, 10.1136/jnnp-2014-309831

Klehmet, 2017, Neurofascin (NF)155- and NF186-specific T cell response in a patient developing a central pontocerebellar demyelination after 10 years of CIDP, Front Neurol, 8, 724, 10.3389/fneur.2017.00724

Mathey, 2015, Chronic inflammatory demyelinating polyradiculoneuropathy: from pathology to phenotype, J Neurol Neurosurg Psychiatry, 86, 973, 10.1136/jnnp-2014-309697

Labasque, 2014, Specific contactin N-glycans are implicated in neurofascin binding and autoimmune targeting in peripheral neuropathies, J Biol Chem, 289, 7907, 10.1074/jbc.M113.528489

Appeltshauser, 2017, Complement deposition induced by binding of anti-contactin-1 auto-antibodies is modified by immunoglobulins, Exp Neurol, 287, 84, 10.1016/j.expneurol.2016.10.006

Huijbers, 2015, The expanding field of IgG4-mediated neurological autoimmune disorders, Eur J Neurol, 22, 1151, 10.1111/ene.12758

Vidarsson, 2014, IgG subclasses and allotypes: from structure to effector functions, Front Immunol, 5, 520, 10.3389/fimmu.2014.00520

Diaz-Manera, 2012, Long-lasting treatment effect of rituximab in MuSK myasthenia, Neurology, 78, 189, 10.1212/WNL.0b013e3182407982

Querol, 2015, Rituximab in treatment-resistant CIDP with antibodies against paranodal proteins, Neurol Neuroimmunol Neuroinflamm, 2, e149, 10.1212/NXI.0000000000000149

Hehir, 2017, Rituximab as treatment for anti-MuSK myasthenia gravis: multicenter blinded prospective review, Neurology, 89, 1069, 10.1212/WNL.0000000000004341

Labasque, 2011, Fibronectin type III-like domains of neurofascin-186 protein mediate gliomedin binding and its clustering at the developing nodes of Ranvier, J Biol Chem, 286, 42426, 10.1074/jbc.M111.266353

Olsen, 2015, Caspr2 autoantibodies target multiple epitopes, Neurol Neuroimmunol Neuroinflamm, 2, e127, 10.1212/NXI.0000000000000127

Diederich, 2018, Neurofascin and compact myelin antigen-specific T cell response pattern in CIDP subtypes, Front Neurol, 9, 171, 10.3389/fneur.2018.00171

Lonigro, 2009, Disruption of neurofascin and gliomedin at nodes of Ranvier precedes demyelination in experimental allergic neuritis, Brain, 132, 260, 10.1093/brain/awn281

Yan, 2014, Antibodies to neurofascin exacerbate adoptive transfer experimental autoimmune neuritis, J Neuroimmunol, 277, 13, 10.1016/j.jneuroim.2014.09.012

Manso, 2016, Contactin-1 IgG4 antibodies cause paranode dismantling and conduction defects, Brain, 139, 1700, 10.1093/brain/aww062

Vallat, 2017, Paranodal lesions in chronic inflammatory demyelinating polyneuropathy associated with anti-neurofascin 155 antibodies, Neuromuscul Disord, 27, 290, 10.1016/j.nmd.2016.10.008

Fujita, 2018, Parallel fluctuation of anti-neurofascin 155 antibody levels with clinico-electrophysiological findings in patients with chronic inflammatory demyelinating polyradiculoneuropathy, J Neurol Sci, 384, 107, 10.1016/j.jns.2017.11.035

Koike, 2018, Restoration of a conduction block after the long-term treatment of CIDP with anti-neurofascin 155 antibodies: follow-up of a case over 23 years, Intern Med, 10.2169/internalmedicine.0455-17

Kanda, 2013, Biology of the blood-nerve barrier and its alteration in immune mediated neuropathies, J Neurol Neurosurg Psychiatry, 84, 208, 10.1136/jnnp-2012-302312

Uncini, 2013, Nodo-paranodopathy: beyond the demyelinating and axonal classification in anti-ganglioside antibody-mediated neuropathies, Clin Neurophysiol, 124, 1928, 10.1016/j.clinph.2013.03.025

Susuki, 2007, Anti-GM1 antibodies cause complement-mediated disruption of sodium channel clusters in peripheral motor nerve fibers, J Neurosci, 27, 3956, 10.1523/JNEUROSCI.4401-06.2007

Uncini, 2015, Nodopathies of the peripheral nerve: an emerging concept, J Neurol Neurosurg Psychiatry, 86, 1186, 10.1136/jnnp-2014-310097

Barnett, 2016, Axonal damage in central and peripheral nervous system inflammatory demyelinating diseases: common and divergent pathways of tissue damage, Curr Opin Neurol, 29, 213, 10.1097/WCO.0000000000000334

Kuwabara, 2017, Nodopathy: chronic inflammatory demyelinating polyneuropathy with anti-neurofascin 155 antibodies, J Neurol Neurosurg Psychiatry, 88, 459, 10.1136/jnnp-2016-315170

Scheibe, 2016, Devastating humoral CIDP variant remitted by autologous stem cell transplantation, Eur J Neurol, 23, e12, 10.1111/ene.12896