Discordance in monozygotic Parkinson's disease twins – continuum or dichotomy?

Abstract

Abstract Differences in concordance rates between monozygotic and dizygotic twin pairs with Parkinson's disease (PD) have been used to estimate genetic influences in PD pathogenesis. We hypothesized that “discordance” may not in all cases adequately reflect the multifaceted disease manifestation of PD that involves a continuum from prodromal to definite PD. Deep clinical phenotyping, combining motor, nonmotor, and imaging modalities in five monozygotic, seemingly discordant twin pairs revealed motor and/or nonmotor features and/or nigral hyperechogenicity in all of the five putatively unaffected twins. In conclusion, our data suggest that concordance rates in monozygotic twins may be higher than previously appreciated.