Biomarker changes preceding symptom onset in genetic prion disease.

ABSTRACT:

Importance

Genetic prion disease is a universally fatal and rapidly progressive neurodegenerative disease for which genetically targeted therapies are currently under development. Preclinical proofs of concept indicate that treatment before symptoms will offer outsize benefit. Though early treatment paradigms will be informed by the longitudinal biomarker trajectory of mutation carriers, to date limited cases have been molecularly tracked from the presymptomatic phase through symptomatic onset.

Objective

To longitudinally characterize disease-relevant cerebrospinal fluid (CSF) and plasma biomarkers in individuals at risk for genetic prion disease up to disease conversion, alongside non-converters and healthy controls.

Design setting and participants

This single-center

SUBMITTER: Vallabh SM 

PROVIDER: S-EPMC10775317 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature