Genomic Landscape of Early-Onset and Familial Latin American Parkinson's Patients

Parkinson's disease is the most common neurodegenerative movement disorder, and although considered a disease of aging, 5-14% of patients experience disease onset before age 50 (early-onset) and approximately 20% have a positive family history. Patients with early-onset disease and family history show higher rates of genetic contribution to disease development. The research team analyzed 263 individuals with early-onset Parkinson's disease or positive family history using whole-genome sequencing. Results showed that 4.7% of analyzed individuals carried pathogenic variants in genes primarily associated with Parkinson's disease, 5.5% had variants linked to Gaucher's disease, and 2.7% had known risk variants in the GBA1 gene. The study identified novel or previously underrepresented variants in the Latin American population that could be missed by standard screening methods.