We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Anti-aquaporin-4 antibody-positive familial neuromyelitis optica in mother and daughter.
- Authors
Yoshimine, Shoyo; Sakai, Tsutomu; Ogasawara, Mikihide; Shikishima, Keigo; Tsuneoka, Hiroshi; Tanaka, Keiko
- Abstract
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.
- Subjects
CASE studies; AQUAPORINS; MEMBRANE proteins; BRAIN imaging; DIAGNOSTIC imaging; FAMILIAL diseases
- Publication
Japanese Journal of Ophthalmology, 2011, Vol 55, Issue 6, p647
- ISSN
0021-5155
- Publication type
Article
- DOI
10.1007/s10384-011-0086-3