Anti-aquaporin-4 antibody-positive familial neuromyelitis optica in mother and daughter

Abstract

Cases of anti-aquaporin (AQP)-4 antibody-positive familial neuromyelitis optica (NMO) in mothers and daughters are described. The demographic, clinical, neuroimaging, and anti-AQP-4 antibody status were investigated in four patients from two Asian families with anti-AQP-4 antibody-positive NMO. NMO was diagnosed in both mothers and daughters using the latest diagnostic criteria. All patients were anti-AQP-4 antibody-positive, and only one had an autoimmune background. The Japanese family presented with a poor visual outcome due to multiple occurrences of optic neuritis, whereas the Korean family presented with a good visual outcome. Disease onset occurred at different ages, even within the same family. These cases may enhance the understanding of the genetic contribution to NMO. Our findings suggest that familial history must be carefully examined in patients with NMO.