BACKGROUND: Cases of anti-aquaporin (AQP)-4 antibody-positive familial neuromyelitis optica (NMO) in mothers and daughters are described. PARTICIPANTS: 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. OBSERVATIONS: 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. CONCLUSIONS: 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.
Read More: Anti-aquaporin-4 antibody-positive familial neuromyelitis optica in mother and daughter.