Article
Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease.
Movement disorders : official journal of the Movement Disorder Society - 1 May 2023
Blauwendraat Cornelis, Tayebi Nahid, Woo Elizabeth Geena, Lopez Grisel, Fierro Luca, Toffoli Marco, Limbachiya Naomi, Hughes Derralynn, Pitz Vanessa, Patel Dhairya, Vitale Dan, Koretsky Mathew J, Hernandez Dena, Real Raquel, Alcalay Roy N, Nalls Mike A, Morris Huw R, Schapira Anthony H V, Balwani Manisha, Sidransky Ellen
Abstract excerpt
BACKGROUND: Biallelic pathogenic variants in GBA1 are the cause of Gaucher disease (GD) type 1 (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 for PD. OBJECTIVE: The objective of this...
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