Autoimmune aquaporin-4 myopathy in neuromyelitis optica spectrum.

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.

journal_name

JAMA Neurol

journal_title

JAMA neurology

authors

Guo Y,Lennon VA,Popescu BF,Grouse CK,Topel J,Milone M,Lassmann H,Parisi JE,Pittock SJ,Stefoski D,Balabanov R,Lucchinetti CF

doi

10.1001/jamaneurol.2014.775

subject

Has Abstract

pub_date

2014-08-01 00:00:00

pages

1025-9

issue

8

eissn

2168-6149

issn

2168-6157

pii

1877427

journal_volume

71

pub_type

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