Abstract
The detection of IgG aquaporin-4 antibodies in the serum of patients with Neuromyelitis optica (NMO) has dramatically improved the diagnosis of this disease and its distinction from multiple sclerosis. Recently, a group of patients have been described who have an NMO spectrum disorder (NMOsd) and who are seronegative for AQP4 antibodies but positive for IgG aquaporin-1 (AQP1) or myelin oligodendrocyte glycoprotein (MOG) antibodies. The purpose of this study was to determine whether AQP1 and MOG could be considered new biomarkers of this disease; and if point mutations in the gDNA of AQP4, AQP1 and MOG genes could be associated with the etiology of NMOsd. We evaluated the diagnostic capability of ELISA and cell-based assays (CBA), and analyzed their reliability, specificity, and sensitivity in detecting antibodies against these three proteins. The results showed that both assays can recognize these antigen proteins under appropriate conditions, but only anti-AQP4 antibodies, and not AQP1 or MOG, appears to be a clear biomarker for NMOsd. CBA is the best method for detecting these antibodies; and serum levels of AQP4 antibodies do not correlate with the progression of this disease. So far, the sequencing analysis has not revealed a genetic basis for the etiology of NMOsd, but a more extensive analysis is required before definitive conclusions can be drawn.
Highlights
Optic neuromyelitis (NMO) is an autoimmune, inflammatory and demyelinating disease of the central nervous system (CNS) which mainly affects the optic nerve and the spinal cord
The genetic analysis we performed here indicates that there are different variations of the AQP1, AQP4, and myelin oligodendrocyte glycoprotein (MOG) genes in patients with NMO spectrum disorders (NMOsd), which are neither necessary nor sufficient for developing NMOsd
We addressed two aspects of NMOsd, one related to the methods for diagnosis and the other associated with the etiology of this disease
Summary
Optic neuromyelitis (NMO) is an autoimmune, inflammatory and demyelinating disease of the central nervous system (CNS) which mainly affects the optic nerve and the spinal cord. Patients with this disease usually suffer recurrent and severe episodes of optic neuritis and transverse myelitis that lead to severe unilateral or bilateral vision loss, and motor and sensory compromise below the medullary level of the lesion that often leads to loss of sphincter control [1]. The development of diagnostic tests with high sensitivity and specificity is greatly needed, and its etiology remains poorly understood Today it is classified as a rare disease. NMOsd includes limited forms of the disease (optic neuritis without myelitis and transverse myelitis without optic neuritis) and other less frequent clinical conditions whose lesions settle in areas of the CNS with high expression of AQP4 [6,7]
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