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JAMA Neurol. 2014 Aug;71(8):1025-9. doi: 10.1001/jamaneurol.2014.775.

Autoimmune aquaporin-4 myopathy in neuromyelitis optica spectrum.

Author information

1
Department of Neurology, Mayo Clinic, Rochester, Minnesota.
2
Department of Neurology, Mayo Clinic, Rochester, Minnesota2Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
3
Department of Neurology, Mayo Clinic, Rochester, Minnesota3Department Anatomy and Cell Biology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.
4
Multiple Sclerosis Center, Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois.
5
Center for Brain Research, Medical University of Vienna, Vienna, Austria.

Abstract

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.

PMID:
24911400
DOI:
10.1001/jamaneurol.2014.775
[Indexed for MEDLINE]

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