Genetic association studies in NMOSD needed

There are differences in prevalence and phenotype of neuromyelitis optica spectrum disorder (NMOSD) in people with different genetic backgrounds. Results from a population-based comparative study suggest differences even among Caucasian populations in Europe [1].

The potential geographical variation in prevalence and phenotype of NMOSD with aquaporin-4 antibody seropositivity among the adult (age ≥16) populations of Denmark and Hungary were compared. In total, 35 Danish and 99 Hungarian cases could be identified. The prevalence in Hungary compared to Denmark on 1 January 2014 was significantly higher: 1.39/100,000 (95% CI 1.11-1.71) versus 0.71/100,000 (95% CI 0.48-1.01) (P=0.0019). The most frequent onset attack in the Hungarian cohort was optic neuritis (n=41, 41% vs n=6, 17%; P=0.013), while transverse myelitis was the most common in the Danish cohort (n=21, 60% vs n=35, 35%; P=0.009). The Danish cohort was more affected by spinal cord damages. The authors concluded that their results substantiate the need for genetic association studies in NMOSD.

1. 1. Papp V, et al. Abstract EPR3076, EAN 2020.