Autoimmune aquaporin-4 myopathy in neuromyelitis optica spectrum

Yong Guo, Vanda A. Lennon, Bogdan F. Bogdan, Carrie Katherine Grouse, Jordan Topel, Margherita Milone, Hans Lassmann, Joseph E. Parisi, Sean J. Pittock, Dusan Stefoski, Roumen Balabanov, Claudia F. Lucchinetti*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

52 Scopus citations


IMPORTANCE: Documentation of muscle pathology compatible with targeting of sarcolemmal aquaporin-4 (AQP4) by complement-activating IgG implies involvement of organs beyond the central nervous system in neuromyelitis optica spectrum disorders. OBSERVATIONS: We report on a 51-year-old woman who had relapsing optic neuritis, transverse myelitis, AQP4-IgG seropositivity, and recurrent myalgias with hyperCKemia. A muscle biopsy revealed scattered myofibers with internal nuclei, atrophy, and regeneration but no necrosis. Mild inflammatory exudates, in endomysial and perivascular spaces, consisted of lymphocytes, histiocytes, and scattered eosinophils. The sarcolemma exhibited loss of AQP4 and deposition of IgG and complement activation products, characteristics not seen in control biopsy samples of healthy muscle and immune-mediated myopathies. CONCLUSIONS AND RELEVANCE: Recurrent hyperCKemia accompanying AQP4-IgG seropositivity reflects targeting of skeletal muscle AQP4 by pathogenic IgG. The entity of autoimmune AQP4 myopathy extends the neuromyelitis optica spectrum beyond the central nervous system.

Original languageEnglish (US)
Pages (from-to)1025-1029
Number of pages5
JournalJAMA Neurology
Issue number8
StatePublished - Aug 2014

ASJC Scopus subject areas

  • Clinical Neurology


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