Article

Polygenic Parkinson’s disease genetic risk score as risk modifier of parkinsonism in Gaucher disease

2022-12-20

Abstract excerpt

<h4>Background</h4> Bi-allelic pathogenic variants in GBA1 are the cause of Gaucher disease (GD1), a lysosomal storage disorder resulting from deficient glucocerebrosidase. Heterozygous GBA1 variants are also a common genetic risk factor for Parkinson’s disease (PD). GD manifests with considerable clinical heterogeneity and is also associated with an increased risk of PD. <h4>Objective</h4> To investigate the cont...

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Literature Corpus work: 820e6b1f-084a-56b7-87c2-dbc93a3f6bcd
DOI: 10.1101/2022.12.19.22280175

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