Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study.

doi:10.1016/j.nbd.2023.106343

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Article

Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study.

Neurobiology of disease - 1 Nov 2023

Toffoli Marco, Chohan Harneek, Mullin Stephen, Jesuthasan Aaron, Yalkic Selen, Koletsi Sofia, Menozzi Elisa, Rahall Soraya, Limbachiya Naomi, Loefflad Nadine, Higgins Abigail, Bestwick Jonathan, Lucas-Del-Pozo Sara, Fierli Federico, Farbos Audrey, Mezabrovschi Roxana, Lee-Yin Chiao, Schrag Anette, Moreno-Martinez David, Hughes Derralynn, Noyce Alastair, Colclough Kevin, Jeffries Aaron R, Proukakis Christos, Schapira Anthony H V

Abstract excerpt

BACKGROUND: Variants in the GBA1 gene cause the lysosomal storage disorder Gaucher disease (GD). They are also risk factors for Parkinson's disease (PD), and modify the expression of the PD phenotype. The penetrance of GBA1 variants in PD is incomplete, and the ability to determine who among GBA1 variant carriers are at higher risk of developing PD, would represent an advantage for prognostic and trial design...

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PMID: 37926171
DOI: 10.1016/j.nbd.2023.106343

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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