Fluid Biomarkers in Individuals at Risk for Genetic Prion Disease up to Disease Conversion.

Objectives: To longitudinally characterize disease-relevant CSF and plasma biomarkers in individuals at risk for genetic prion disease up to disease conversion.

Methods: This single-center longitudinal cohort study has followed known carriers of pathogenic variants at risk for prion disease, individuals with a close relative who died of genetic prion disease but who have not undergone predictive genetic testing, and controls. All participants were asymptomatic at first visit and returned roughly annually.