Genetic analysis of aquaporin-4 in neuromyelitis optica. Matiello M , Schaefer-Klein JL , Hebrink DD , Kingsbury DJ , Atkinson EJ , Weinshenker BG ; On behalf of the NMO Genetics Collaborators
INTRODUCTION: The existence of antibodies to aquaporin-4 (AQP-4-ab) has identified neuromyelitis optica (NMO) and multiple sclerosis (MS) as different diseases. Although HLA-DRB1 alleles contribute to MS risk, recent studies suggest that HLA back-ground differs between patients with NMO or MS in non-Caucasians populations
BACKGROUND: To establish whether or not multiple sclerosis (MS) and neuromyelitis optica (NMO) are different pathological entities, we wondered whether MS patients and NMO patients share the same pattern of human leukocyte antigen (HLA) predisposition. OBJECTIVE: To study a putative association between susceptibility to NMO and HLA class I or class II loci in Caucasians. METHODS: A total of 39 unrelated Caucasian patients with NMO and six patients at a high risk of converting to NMO were studied