Antibodies to aquaporin-1 are not present in neuromyelitis optica

Although more than 70% of all patients with neuromyelitis optica (NMO) are seropositive for aquaporin-4 (AQP4) antibodies, a substantial proportion of patients fulfilling the clinical criteria for NMO or limited forms of the disease (NMO spectrum disorders [NMOSD]) are negative for these antibodies.1 This raises the possibility of other autoantibodies in these patients. One putative target, the ubiquitously expressed water channel aquaporin-1 (AQP1), which is partially lost or internalized in certain NMO lesions,2 was described in a subset of patients with NMOSD.3,–,5 However, AQP1 antibodies were also found in patients with multiple sclerosis (MS), thus raising concerns about the specificity of these findings. Therefore, we developed a recombinant live cell immunofluorescence assay (CBA) for AQP1 antibodies based on our AQP4 antibody assay.6 We analyzed 176 serum samples from Austrian patients with NMOSD (n = 67), Austrian patients with MS (n = 31), and controls (n = 78) for the presence of IgG AQP1 antibodies and AQP4 antibodies. Furthermore, both assays were validated in a blinded cohort of 58 patients with NMOSD (n = 36) or MS (n = 22) from Lyon (France) and Oxford (United Kingdom). Clinical and demographic data of patients and controls are shown in the table