Frequency and syndrome specificity of antibodies to aquaporin-4 in neurological patients with rheumatic disorders

Sven Jarius, Christian Jacobi, Jerome De Seze, Helene Zephir, Friedemann Paul, Diego Franciotta, Paulus Rommer, Simone Mader, Ingo Kleiter, Markus Reindl, Gulsen Akman-Demir, Thomas Seifert-Held, Wolfgang Kristoferitsch, Arthur Melms, Klaus Peter Wandinger, Brigitte Wildemann

Research output: Contribution to journalArticlepeer-review


Background: A new autoantibody (termed NMO-IgG, or AQP4-Ab) has recently been described in patients with neuromyelitis optica (NMO) and its formes frustes, longitudinally extensive transverse myelitis (LETM) and recurrent optic neuritis (rON). However, AQP4-Ab has been found also in patients with co-existing rheumatic diseases such as systemic lupus erythematosus (SLE) or Sjögren's syndrome (SS), conditions which are characterized by broad, polyspecific B cell activation.Objectives: In this study, we aimed at evaluating the syndrome specificity and frequency of AQP4-Ab in patients with rheumatic diseases and neurological symptoms.Methods: For this purpose, serum samples from 109 neurological patients with established connective tissue disorders (CTD) (n = 54), possible CTD (n = 42), or vasculitis (n = 13) were analysed for the presence of AQP4-Ab by a cell-based assay employing recombinant human AQP4.Results: AQP4-Ab was detectable in 31/40 (78%) patients with CTD and NMO spectrum disorders (median titre, 1:1000) but in none of the samples obtained from patients with CTD or vasculitis and neurological disorders other than NMO, LETM, or rON (n = 69).Conclusion: The high syndrome specificity of the antibody for neuromyelitis optica spectrum disorders (NMOSDs) in patients with CTD supports the concept of AQP4-Ab being involved in the pathogenesis of these neurological conditions, and argues against AQP4-Ab simply being part of the polyclonal B cell activation generally associated with rheumatic diseases. Moreover, the finding that AQP4-Ab is present in patients with CTD and co-existing NMOSD with approximately the same frequency as in patients without CTD strengthens the case of CTD and AQP4-Ab positive NMOSD representing two co-existing yet distinct entities in the majority of patients.

Original languageEnglish
Pages (from-to)1067-1073
Number of pages7
JournalMultiple Sclerosis Journal
Issue number9
Publication statusPublished - 2011


  • antibody to aquaporin-4
  • connective tissue disorders
  • diagnosis
  • longitudinally extensive transverse myelitis
  • neuromyelitis optica (Devic's disease)
  • neuropsychiatric lupus
  • NMO-IgG
  • rheumatic diseases
  • scleroderma
  • Sjögren's syndrome
  • systemic lupus erythematosus
  • vasculitis

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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