Article

Penetrance of Parkinson’s disease in<i>GBA1</i>carriers is depending on the variant severity and polygenic background

2025-01-28

Abstract excerpt

<h4>Background</h4> Heterozygous variants in the GBA1 gene cause Parkinson’s disease (PD) with variable penetrance and have been classified into severe, mild, and PD-specific risk variants based on their association with Gaucher’s disease (GD; mild and severe) or PD (risk variants). Polygenic risk scores (PRS) further modify PD susceptibility and may influence the age of onset in GBA1 variant carriers. Our study i...

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Literature Corpus work: a284f5ca-fe1a-50aa-8794-f878973ca3e1
DOI: 10.1101/2025.01.23.25320896

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