<i>LRRK2</i>-associated parkinsonism with and without <i>in vivo</i> evidence of alpha-synuclein aggregates: longitudinal clinical and biomarker characterization.

ABSTRACT: Among LRRK2-associated parkinsonism cases with nigral degeneration, over two-thirds demonstrate evidence of pathologic alpha-synuclein, but many do not. Understanding the clinical phenotype and underlying biology in such individuals is critical for therapeutic development. Our objective was to compare clinical and biomarker features, and rate of progression over 4 years of follow-up, among LRRK2-associated parkinsonism cases with and without in vivo evidence of alpha-synuclein aggregates. Data were from the Parkinson's Progression Markers Initiative, a multicentre prospective cohort study. The sample included individuals diagnosed with Parkinson disease with pathogenic variants in LRRK2. Presence of CSF alpha-synuclein aggregation was assessed with seed amplific

SUBMITTER: Chahine LM 

PROVIDER: S-EPMC11925012 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature