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Clinical spectrum associated with aquaporin-4 antibodies (NMO-IgG).

INTRODUCTION: The description of a highly sensitive and specific biomarker for neuromyelitis optica (NMO-IgG/aquaporin-4 antibody) extended the clinical spectrum of NMO to limited forms such as optic neuritis (ON) and longitudinally extensive myelitis (LEM). OBJECTIVE: To asses the sensitivity and specificity of our assay, and to describe the clinical characteristics of the patients who were tested for NMO-IgG. METHODS: NMO-IgG was analysed by immunohistochemistry and confirmed by assay on HEK cells transfected with aquaporin-4. The clinical information was obtained from forms filled in by the referring neurologists. RESULTS: A total of 580 samples from 518 patients were analysed from November 2005 to September 2008. Clinical information was available from 358 (68%) patients. All 33 (100%) positive cases were followed up. Twenty-eight of the 43 (65%) patients diagnosed with NMO by the revised criteria of 2006 were positive; the sensitivity was 62.5% when applying the same criteria, but discounting the criterion of NMO-IgG status, or 57% when applying the criteria of 1999. NMO-IgG was detected in 3 (13%) of the recurrent LEM and 2 (4%) of the recurrent ON. NMO-IgG was not detected in the remaining patients (96 with a final diagnosis of multiple sclerosis; 80 with myelitis; 28 with non-recurrent ON; and 33 other diagnosis). CONCLUSIONS: No false positive cases were found in this large and non-selected study. NMO-IgG positive cases were mostly associated with NMO, and only in a low percentage with recurrent ON or LEM.

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