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.
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.
Authors: M Matiello; H J Kim; W Kim; D G Brum; A A Barreira; D J Kingsbury; G T Plant; T Adoni; B G Weinshenker Journal: Neurology Date: 2010-07-27 Impact factor: 9.910
Authors: H Zéphir; I Fajardy; O Outteryck; F Blanc; N Roger; M Fleury; G Rudolf; R Marignier; S Vukusic; C Confavreux; P Vermersch; J de Seze Journal: Mult Scler Date: 2009-03-19 Impact factor: 6.312