---
res:
  bibo_abstract:
  - "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.@eng"
  bibo_authorlist:
  - foaf_Person:
      foaf_givenName: Yvette S.
      foaf_name: Crijnen, Yvette S.
      foaf_surname: Crijnen
  - foaf_Person:
      foaf_givenName: Verena
      foaf_name: Endmayr, Verena
      foaf_surname: Endmayr
  - foaf_Person:
      foaf_givenName: Suzanne C.
      foaf_name: Franken, Suzanne C.
      foaf_surname: Franken
  - foaf_Person:
      foaf_givenName: Nadine A.M.E.
      foaf_name: Van Der Beek, Nadine A.M.E.
      foaf_surname: Van Der Beek
  - foaf_Person:
      foaf_givenName: Maartje
      foaf_name: Louter, Maartje
      foaf_surname: Louter
  - foaf_Person:
      foaf_givenName: Thomas
      foaf_name: Ströbel, Thomas
      foaf_surname: Ströbel
  - foaf_Person:
      foaf_givenName: Ellen
      foaf_name: Gelpi, Ellen
      foaf_surname: Gelpi
  - foaf_Person:
      foaf_givenName: Inga
      foaf_name: Koneczny, Inga
      foaf_surname: Koneczny
  - foaf_Person:
      foaf_givenName: Ryuichi
      foaf_name: Shigemoto, Ryuichi
      foaf_surname: Shigemoto
      foaf_workInfoHomepage: http://www.librecat.org/personId=499F3ABC-F248-11E8-B48F-1D18A9856A87
    orcid: 0000-0001-8761-9444
  - foaf_Person:
      foaf_givenName: Jan
      foaf_name: Lewerenz, Jan
      foaf_surname: Lewerenz
  - foaf_Person:
      foaf_givenName: Birgit
      foaf_name: Högl, Birgit
      foaf_surname: Högl
  - foaf_Person:
      foaf_givenName: Julia V.
      foaf_name: Wanschitz, Julia V.
      foaf_surname: Wanschitz
  - foaf_Person:
      foaf_givenName: Ulrich He
      foaf_name: Hofstadt-Van Oy, Ulrich He
      foaf_surname: Hofstadt-Van Oy
  - foaf_Person:
      foaf_givenName: Robin W.
      foaf_name: Van Steenhoven, Robin W.
      foaf_surname: Van Steenhoven
  - foaf_Person:
      foaf_givenName: Mariska M.P.
      foaf_name: Nagtzaam, Mariska M.P.
      foaf_surname: Nagtzaam
  - foaf_Person:
      foaf_givenName: Jeroen
      foaf_name: Kerstens, Jeroen
      foaf_surname: Kerstens
  - foaf_Person:
      foaf_givenName: Juliette
      foaf_name: Brenner, Juliette
      foaf_surname: Brenner
  - foaf_Person:
      foaf_givenName: Anna E.M.
      foaf_name: Bastiaansen, Anna E.M.
      foaf_surname: Bastiaansen
  - foaf_Person:
      foaf_givenName: Robert M.
      foaf_name: Verdijk, Robert M.
      foaf_surname: Verdijk
  - foaf_Person:
      foaf_givenName: Thierry P.P.
      foaf_name: Van Den Bosch, Thierry P.P.
      foaf_surname: Van Den Bosch
  - foaf_Person:
      foaf_givenName: Marco
      foaf_name: Schreurs, Marco
      foaf_surname: Schreurs
  - foaf_Person:
      foaf_givenName: Sharon
      foaf_name: Veenbergen, Sharon
      foaf_surname: Veenbergen
  - foaf_Person:
      foaf_givenName: Marcel M.
      foaf_name: Verbeek, Marcel M.
      foaf_surname: Verbeek
  - foaf_Person:
      foaf_givenName: Dave L.
      foaf_name: Roelen, Dave L.
      foaf_surname: Roelen
  - foaf_Person:
      foaf_givenName: Mar
      foaf_name: Guasp, Mar
      foaf_surname: Guasp
  - foaf_Person:
      foaf_givenName: Peter A.E.
      foaf_name: Sillevis Smitt, Peter A.E.
      foaf_surname: Sillevis Smitt
  - foaf_Person:
      foaf_givenName: Lidia
      foaf_name: Sabater, Lidia
      foaf_surname: Sabater
  - foaf_Person:
      foaf_givenName: Juna M.
      foaf_name: De Vries, Juna M.
      foaf_surname: De Vries
  - foaf_Person:
      foaf_givenName: Romana
      foaf_name: Höftberger, Romana
      foaf_surname: Höftberger
  - foaf_Person:
      foaf_givenName: Maarten J.
      foaf_name: Titulaer, Maarten J.
      foaf_surname: Titulaer
  bibo_doi: 10.1212/NXI.0000000000200525
  bibo_issue: '5'
  bibo_volume: 13
  dct_date: 2026^xs_gYear
  dct_isPartOf:
  - http://id.crossref.org/issn/2332-7812
  dct_language: eng
  dct_publisher: Wolters Kluwer@
  dct_title: Muscle regeneration failure may lead to clinical features of myopathy
    in anti-IgLON5 disease@
  fabio_hasPubmedId: '42441930'
...