[{"OA_place":"publisher","researchdata_availability":"upon request","article_type":"original","acknowledgement":"One author (Manuela Paunovic) was removed from the paper due to personal circumstances. Her contributions were removed from the manuscript before final review. The authors thank all patients for their participation and all referring physicians. The authors thank Professor Joachim Weis at the Medical Faculty RWTH Aachen University for his contribution to the manuscript. The authors would like to thank Andrea Polt and Irene Erber at the Medical University of Vienna, and Jacqueline Montanaro at IST Austria, for their assistance in the laboratory. N.A.M.E. van der Beek participates in EURO-NMD. M.W.J. Schreurs, P.A.E. Sillevis Smitt, J.M. de Vries, and M.J. Titulaer are members of the European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases–Project ID No 739543 (ERN-RITA; HCP Erasmus MC). IK was funded by the Austrian Science Fund (FWF, T996-B30). RS was funded by the Austrian Science Fund (FWF, SYNABS, I6565-B). JL was funded by German Federal Ministry of Education and Research (BMBF, Forschungsverbund CONNECT-GEN-\r\nERATE, 01 GM2208B). RvS was funded by AEA Seed Grant 2023 and InterAct Grant of Alzheimer Nederland 2023. LS was funded by Instituto de Salud Carlos III (ISCIII, PI21/ 00165) and the Networking Support Scheme funded from the European Union’s Horizon 2020 research and innovation program (EJP RD COFUND-EJP N° 825575). JdV was funded by AEA Seed Grant 2021. RH was funded by grants from the Austrian Science Fund (FWF, SYNABS, I4685-B, I6565-B), Forschungsf¨orderungsgesellschaft (FFG, IGNITE-\r\nMIND, FO999920011), and the Austrian Society of\r\nNeurology (\r\n¨\r\nOsterreichische Gesellschaft f¨ur Neurologie).\r\nMT was funded by the Dutch EpilepsieNL Foundation (NEF 19-08), an Interlaken Leadership award, Dioraphte (2001 0403) the Dutch Research Council (ZonMW, PARADE-\r\nVIMP) and E-RARE JTC 2018 (UltraAIE, 90030376505).","author":[{"full_name":"Crijnen, Yvette S.","first_name":"Yvette S.","last_name":"Crijnen"},{"first_name":"Verena","last_name":"Endmayr","full_name":"Endmayr, Verena"},{"full_name":"Franken, Suzanne C.","last_name":"Franken","first_name":"Suzanne C."},{"full_name":"Van Der Beek, Nadine A.M.E.","first_name":"Nadine A.M.E.","last_name":"Van Der Beek"},{"first_name":"Maartje","last_name":"Louter","full_name":"Louter, Maartje"},{"first_name":"Thomas","last_name":"Ströbel","full_name":"Ströbel, Thomas"},{"last_name":"Gelpi","first_name":"Ellen","full_name":"Gelpi, Ellen"},{"first_name":"Inga","last_name":"Koneczny","full_name":"Koneczny, Inga"},{"full_name":"Shigemoto, Ryuichi","orcid":"0000-0001-8761-9444","last_name":"Shigemoto","id":"499F3ABC-F248-11E8-B48F-1D18A9856A87","first_name":"Ryuichi"},{"last_name":"Lewerenz","first_name":"Jan","full_name":"Lewerenz, Jan"},{"first_name":"Birgit","last_name":"Högl","full_name":"Högl, Birgit"},{"last_name":"Wanschitz","first_name":"Julia V.","full_name":"Wanschitz, Julia V."},{"first_name":"Ulrich He","last_name":"Hofstadt-Van Oy","full_name":"Hofstadt-Van Oy, Ulrich He"},{"first_name":"Robin W.","last_name":"Van Steenhoven","full_name":"Van Steenhoven, Robin W."},{"full_name":"Nagtzaam, Mariska M.P.","last_name":"Nagtzaam","first_name":"Mariska M.P."},{"full_name":"Kerstens, Jeroen","first_name":"Jeroen","last_name":"Kerstens"},{"first_name":"Juliette","last_name":"Brenner","full_name":"Brenner, Juliette"},{"last_name":"Bastiaansen","first_name":"Anna E.M.","full_name":"Bastiaansen, Anna E.M."},{"first_name":"Robert M.","last_name":"Verdijk","full_name":"Verdijk, Robert M."},{"last_name":"Van Den Bosch","first_name":"Thierry P.P.","full_name":"Van Den Bosch, Thierry P.P."},{"last_name":"Schreurs","first_name":"Marco","full_name":"Schreurs, Marco"},{"first_name":"Sharon","last_name":"Veenbergen","full_name":"Veenbergen, Sharon"},{"last_name":"Verbeek","first_name":"Marcel M.","full_name":"Verbeek, Marcel M."},{"first_name":"Dave L.","last_name":"Roelen","full_name":"Roelen, Dave L."},{"last_name":"Guasp","first_name":"Mar","full_name":"Guasp, Mar"},{"full_name":"Sillevis Smitt, Peter A.E.","first_name":"Peter A.E.","last_name":"Sillevis Smitt"},{"full_name":"Sabater, Lidia","first_name":"Lidia","last_name":"Sabater"},{"full_name":"De Vries, Juna M.","last_name":"De Vries","first_name":"Juna M."},{"full_name":"Höftberger, Romana","last_name":"Höftberger","first_name":"Romana"},{"full_name":"Titulaer, Maarten J.","first_name":"Maarten J.","last_name":"Titulaer"}],"file_date_updated":"2026-08-03T08:06:16Z","day":"01","date_created":"2026-08-02T22:01:52Z","language":[{"iso":"eng"}],"publication":"Neurology, Neuroimmunology & Neuroinflammation","month":"09","date_published":"2026-09-01T00:00:00Z","ddc":["570"],"page":"e200525","status":"public","has_accepted_license":"1","department":[{"_id":"RySh"}],"type":"journal_article","issue":"5","date_updated":"2026-08-03T08:16:04Z","dataavailabilitystatement":"Any data not published within this article are available at Erasmus MC, Rotterdam, and Medical University of Vienna. Data will be shared on reasonable request from any qualified investigator, ascertaining anonymization of the individual patients, in line with European privacy regulations.","doi":"10.1212/NXI.0000000000200525","user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","volume":13,"citation":{"chicago":"Crijnen, Yvette S., Verena Endmayr, Suzanne C. Franken, Nadine A.M.E. Van Der Beek, Maartje Louter, Thomas Ströbel, Ellen Gelpi, et al. “Muscle Regeneration Failure May Lead to Clinical Features of Myopathy in Anti-IgLON5 Disease.” <i>Neurology, Neuroimmunology &#38; Neuroinflammation</i>. Wolters Kluwer, 2026. <a href=\"https://doi.org/10.1212/NXI.0000000000200525\">https://doi.org/10.1212/NXI.0000000000200525</a>.","mla":"Crijnen, Yvette S., et al. “Muscle Regeneration Failure May Lead to Clinical Features of Myopathy in Anti-IgLON5 Disease.” <i>Neurology, Neuroimmunology &#38; Neuroinflammation</i>, vol. 13, no. 5, Wolters Kluwer, 2026, p. e200525, doi:<a href=\"https://doi.org/10.1212/NXI.0000000000200525\">10.1212/NXI.0000000000200525</a>.","ama":"Crijnen YS, Endmayr V, Franken SC, et al. Muscle regeneration failure may lead to clinical features of myopathy in anti-IgLON5 disease. <i>Neurology, Neuroimmunology &#38; Neuroinflammation</i>. 2026;13(5):e200525. doi:<a href=\"https://doi.org/10.1212/NXI.0000000000200525\">10.1212/NXI.0000000000200525</a>","apa":"Crijnen, Y. S., Endmayr, V., Franken, S. C., Van Der Beek, N. A. M. E., Louter, M., Ströbel, T., … Titulaer, M. J. (2026). Muscle regeneration failure may lead to clinical features of myopathy in anti-IgLON5 disease. <i>Neurology, Neuroimmunology &#38; Neuroinflammation</i>. Wolters Kluwer. <a href=\"https://doi.org/10.1212/NXI.0000000000200525\">https://doi.org/10.1212/NXI.0000000000200525</a>","ieee":"Y. S. Crijnen <i>et al.</i>, “Muscle regeneration failure may lead to clinical features of myopathy in anti-IgLON5 disease,” <i>Neurology, Neuroimmunology &#38; Neuroinflammation</i>, vol. 13, no. 5. Wolters Kluwer, p. e200525, 2026.","short":"Y.S. Crijnen, V. Endmayr, S.C. Franken, N.A.M.E. Van Der Beek, M. Louter, T. Ströbel, E. Gelpi, I. Koneczny, R. Shigemoto, J. Lewerenz, B. Högl, J.V. Wanschitz, U.H. Hofstadt-Van Oy, R.W. Van Steenhoven, M.M.P. Nagtzaam, J. Kerstens, J. Brenner, A.E.M. Bastiaansen, R.M. Verdijk, T.P.P. Van Den Bosch, M. Schreurs, S. Veenbergen, M.M. Verbeek, D.L. Roelen, M. Guasp, P.A.E. Sillevis Smitt, L. Sabater, J.M. De Vries, R. Höftberger, M.J. Titulaer, Neurology, Neuroimmunology &#38; Neuroinflammation 13 (2026) e200525.","ista":"Crijnen YS, Endmayr V, Franken SC, Van Der Beek NAME, Louter M, Ströbel T, Gelpi E, Koneczny I, Shigemoto R, Lewerenz J, Högl B, Wanschitz JV, Hofstadt-Van Oy UH, Van Steenhoven RW, Nagtzaam MMP, Kerstens J, Brenner J, Bastiaansen AEM, Verdijk RM, Van Den Bosch TPP, Schreurs M, Veenbergen S, Verbeek MM, Roelen DL, Guasp M, Sillevis Smitt PAE, Sabater L, De Vries JM, Höftberger R, Titulaer MJ. 2026. Muscle regeneration failure may lead to clinical features of myopathy in anti-IgLON5 disease. Neurology, Neuroimmunology &#38; Neuroinflammation. 13(5), e200525."},"quality_controlled":"1","article_processing_charge":"Yes","PlanS_conform":"1","file":[{"file_size":1122644,"content_type":"application/pdf","file_id":"22631","date_updated":"2026-08-03T08:06:16Z","creator":"dernst","checksum":"7cc4c4c180a2cf65603a02bef7b75784","success":1,"file_name":"2026_Neurology_Crijnen.pdf","date_created":"2026-08-03T08:06:16Z","access_level":"open_access","relation":"main_file"}],"scopus_import":"1","OA_type":"gold","abstract":[{"lang":"eng","text":"Background and Objectives: \r\nAnti-immunoglobulin-like cell adhesion molecule 5 (IgLON5) disease is a novel and poten-\r\ntially treatable entity. Therefore, it is important to recognize all clinical symptoms and di-\r\nagnostic clues. We specifically investigated neuromuscular signs and symptoms and muscle biopsy pathology, providing a link between IgLON5 and clinical features of myopathy.\r\nMethods: \r\nAll patients diagnosed with anti-IgLON5 disease in the Netherlands between 2016 and 2023 were included. Serum and CSF samples were tested with immunohistochemistry on rat brain and in-house cell-based assay using live cells. Biopsies of the vastus lateralis muscle were performed in patients with neuromuscular signs and symptoms and analyzed in Vienna to-\r\ngether with 3 biopsies of non-Dutch patients sent to Vienna for second opinion.\r\nResults: \r\nTwenty patients with anti-IgLON5 disease were included (10 male, 50%). The median age at onset was 61.5 years (range 45–85), and the median time from onset to diagnosis was 30 months (range 3–280). Neuromuscular symptoms were present in over half of the patients (11/20), including proximal limb weakness (n = 11), axial weakness (n = 1), muscle atrophy (n = 6), and fasciculations (n = 5). All 12 muscle biopsies (9 from the Dutch cohort, 3 external) showed mild myopathic alterations, 2 additionally presented target fibers and fiber type grouping (compatible with neu-\r\nrogenic myopathy), and 3 patients showed immune cell infiltration. We found a strong upregulation of IgLON5 expression in muscle fibers in all patients and also in different muscle disease controls, while immunoreactivity in healthy control muscle was faint/absent.\r\nDiscussion: \r\nOur data support that IgLON5 might play a role in muscle regeneration, which might result in proximal myopathy as a prominent clinical feature in anti-IgLON5 disease. This finding broadens the clinical phenotype of anti-IgLON5 disease and can be an important clue for earlier diagnosis and start of immunotherapy."}],"year":"2026","das_tickbox":"1","DOAJ_listed":"1","oa":1,"intvolume":"        13","pmid":1,"oa_version":"Published Version","title":"Muscle regeneration failure may lead to clinical features of myopathy in anti-IgLON5 disease","_id":"22615","publication_status":"published","publisher":"Wolters Kluwer","external_id":{"pmid":["42441930"]},"license":"https://creativecommons.org/licenses/by/4.0/","supplementarymaterial":"no","publication_identifier":{"eissn":["2332-7812"]},"project":[{"name":"LGI1 antibody-induced pathophysiology in synapses","_id":"05970B30-7A3F-11EA-A408-12923DDC885E","grant_number":"I04638"}],"tmp":{"name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)","image":"/images/cc_by.png","short":"CC BY (4.0)","legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode"}},{"doi":"10.1212/NXI.0000000000200284","user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","volume":11,"citation":{"chicago":"Ritzau-Jost, Andreas, Felix Gsell, Josefine Sell, Stefan Sachs, Jacqueline-Claire Montanaro-Punzengruber, Toni Kirmann, Sebastian Maaß, et al. “LGI1 Autoantibodies Enhance Synaptic Transmission by Presynaptic Kv1 Loss and Increased Action Potential Broadening.” <i>Neurology, Neuroimmunology &#38; Neuroinflammation</i>. Wolters Kluwer, 2024. <a href=\"https://doi.org/10.1212/NXI.0000000000200284\">https://doi.org/10.1212/NXI.0000000000200284</a>.","mla":"Ritzau-Jost, Andreas, et al. “LGI1 Autoantibodies Enhance Synaptic Transmission by Presynaptic Kv1 Loss and Increased Action Potential Broadening.” <i>Neurology, Neuroimmunology &#38; Neuroinflammation</i>, vol. 11, no. 5, Wolters Kluwer, 2024, p. e200284, doi:<a href=\"https://doi.org/10.1212/NXI.0000000000200284\">10.1212/NXI.0000000000200284</a>.","apa":"Ritzau-Jost, A., Gsell, F., Sell, J., Sachs, S., Montanaro-Punzengruber, J.-C., Kirmann, T., … Hallermann, S. (2024). LGI1 autoantibodies enhance synaptic transmission by presynaptic Kv1 loss and increased action potential broadening. <i>Neurology, Neuroimmunology &#38; Neuroinflammation</i>. Wolters Kluwer. <a href=\"https://doi.org/10.1212/NXI.0000000000200284\">https://doi.org/10.1212/NXI.0000000000200284</a>","ama":"Ritzau-Jost A, Gsell F, Sell J, et al. LGI1 autoantibodies enhance synaptic transmission by presynaptic Kv1 loss and increased action potential broadening. <i>Neurology, Neuroimmunology &#38; Neuroinflammation</i>. 2024;11(5):e200284. doi:<a href=\"https://doi.org/10.1212/NXI.0000000000200284\">10.1212/NXI.0000000000200284</a>","ieee":"A. Ritzau-Jost <i>et al.</i>, “LGI1 autoantibodies enhance synaptic transmission by presynaptic Kv1 loss and increased action potential broadening,” <i>Neurology, Neuroimmunology &#38; Neuroinflammation</i>, vol. 11, no. 5. Wolters Kluwer, p. e200284, 2024.","short":"A. Ritzau-Jost, F. Gsell, J. Sell, S. Sachs, J.-C. Montanaro-Punzengruber, T. Kirmann, S. Maaß, S.R. Irani, C. Werner, C. Geis, M. Sauer, R. Shigemoto, S. Hallermann, Neurology, Neuroimmunology &#38; Neuroinflammation 11 (2024) e200284.","ista":"Ritzau-Jost A, Gsell F, Sell J, Sachs S, Montanaro-Punzengruber J-C, Kirmann T, Maaß S, Irani SR, Werner C, Geis C, Sauer M, Shigemoto R, Hallermann S. 2024. LGI1 autoantibodies enhance synaptic transmission by presynaptic Kv1 loss and increased action potential broadening. Neurology, Neuroimmunology &#38; Neuroinflammation. 11(5), e200284."},"quality_controlled":"1","isi":1,"article_processing_charge":"Yes","file":[{"date_created":"2025-01-09T13:42:42Z","access_level":"open_access","relation":"main_file","file_name":"2024_NeurologyNeuroimmNeuroinflamm_RitzauJost.pdf","success":1,"creator":"dernst","checksum":"1e6d1230e0387f72752e3268f5330c9e","date_updated":"2025-01-09T13:42:42Z","file_id":"18815","content_type":"application/pdf","file_size":855818}],"scopus_import":"1","article_type":"original","acknowledgement":"The authors thank Claudia Sommer for expert technical assistance, the Electron Microscopy Facility of IST-Austria for resources, and Tereza Belinova in the Imaging and Optics Facility of IST-Austria for 3D reconstruction. ","related_material":{"link":[{"relation":"earlier_version","url":"https://doi.org/10.1101/2023.10.04.560631"}]},"OA_place":"publisher","file_date_updated":"2025-01-09T13:42:42Z","date_created":"2024-08-25T22:01:07Z","day":"01","language":[{"iso":"eng"}],"author":[{"full_name":"Ritzau-Jost, Andreas","last_name":"Ritzau-Jost","first_name":"Andreas"},{"full_name":"Gsell, Felix","first_name":"Felix","last_name":"Gsell"},{"full_name":"Sell, Josefine","last_name":"Sell","first_name":"Josefine"},{"full_name":"Sachs, Stefan","first_name":"Stefan","last_name":"Sachs"},{"first_name":"Jacqueline-Claire","id":"3786AB44-F248-11E8-B48F-1D18A9856A87","last_name":"Montanaro-Punzengruber","full_name":"Montanaro-Punzengruber, Jacqueline-Claire"},{"full_name":"Kirmann, Toni","first_name":"Toni","last_name":"Kirmann"},{"full_name":"Maaß, Sebastian","first_name":"Sebastian","last_name":"Maaß"},{"first_name":"Sarosh R.","last_name":"Irani","full_name":"Irani, Sarosh R."},{"full_name":"Werner, Christian","first_name":"Christian","last_name":"Werner"},{"last_name":"Geis","first_name":"Christian","full_name":"Geis, Christian"},{"last_name":"Sauer","first_name":"Markus","full_name":"Sauer, Markus"},{"orcid":"0000-0001-8761-9444","full_name":"Shigemoto, Ryuichi","first_name":"Ryuichi","last_name":"Shigemoto","id":"499F3ABC-F248-11E8-B48F-1D18A9856A87"},{"first_name":"Stefan","last_name":"Hallermann","full_name":"Hallermann, Stefan"}],"page":"e200284","status":"public","publication":"Neurology, Neuroimmunology & Neuroinflammation","date_published":"2024-09-01T00:00:00Z","acknowledged_ssus":[{"_id":"Bio"},{"_id":"EM-Fac"}],"month":"09","ddc":["570"],"date_updated":"2026-08-12T14:17:59Z","has_accepted_license":"1","department":[{"_id":"RySh"}],"type":"journal_article","issue":"5","publisher":"Wolters Kluwer","publication_identifier":{"eissn":["2332-7812"]},"external_id":{"pmid":["39141878"],"isi":["001291908600001"]},"tmp":{"name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)","image":"/images/cc_by.png","short":"CC BY (4.0)","legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode"},"project":[{"name":"LGI1 antibody-induced pathophysiology in synapses","_id":"05970B30-7A3F-11EA-A408-12923DDC885E","grant_number":"I04638"}],"abstract":[{"lang":"eng","text":"Autoantibodies against the protein leucine-rich glioma inactivated 1 (LGI1) cause the most\r\ncommon subtype of autoimmune encephalitis with predominant involvement of the limbic\r\nsystem, associated with seizures and memory deficits. LGI1 and its receptor ADAM22 are part\r\nof a transsynaptic protein complex that includes several proteins involved in presynaptic\r\nneurotransmitter release and postsynaptic glutamate sensing. Autoantibodies against LGI1\r\nincrease excitatory synaptic strength, but studies that genetically disrupt the LGI1-ADAM22\r\ncomplex report a reduction in postsynaptic glutamate receptor-mediated responses. Thus, the\r\nmechanisms underlying the increased synaptic strength induced by LGI1 autoantibodies remain elusive, and the contributions of presynaptic molecules to the LGI1-transsynaptic complex remain unclear. We therefore investigated the presynaptic mechanisms that mediate\r\nautoantibody-induced synaptic strengthening."}],"year":"2024","OA_type":"gold","DOAJ_listed":"1","pmid":1,"oa":1,"intvolume":"        11","title":"LGI1 autoantibodies enhance synaptic transmission by presynaptic Kv1 loss and increased action potential broadening","_id":"17457","publication_status":"published","oa_version":"Published Version"}]