GBA1
GBA1 (glucocerebrosidase) variants, their progression effect and GBA-targeted therapies.
State of the art
No update yet for GBA1. An update is a standalone state-of-the-art for the topic — what someone with Parkinson's needs to know about where this approach stands today.
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PD GENEration: An International Parkinson's Disease Genetic Research Study
The international expansion of PD GENEration — now including Latin American and Israeli cohorts alongside North America — confirms GBA1 as the most common genetic contributor to Parkinson's across diverse populations, found in approximately 7.7% of participants in the North American phase. Population-specific variant frequencies differ across ancestries, underscoring the value of broad, international testing rather than restricting testing to high-risk ethnic groups. -
Multi-locus genetic dosage shapes cognitive disease progression in Parkinson’s patients: 15-year meta-analysis of 24 cohorts
In this 24-cohort meta-analysis, GBA1 variants showed the strongest individual effect among the five loci studied (HR 2.09 for dementia), and their contribution compounds when co-occurring with APOE e4 or RIMS2 variants. This reinforces GBA1 carriers as a high-priority subgroup for cognitive monitoring and future dementia-prevention trials, independent of their motor trajectory.