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Article

Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: A Kin Cohort Study.

Movement disorders : official journal of the Movement Disorder Society - 1 Nov 2020

Balestrino Roberta, Tunesi Sara, Tesei Silvana, Lopiano Leonardo, Zecchinelli Anna L, Goldwurm Stefano

Abstract excerpt

BACKGROUND: Homozygous glucocerebrosidase mutations cause Gaucher disease, whereas heterozygous mutations are the most important genetic risk factor for Parkinson's disease (PD). The penetrance of heterozygous glucocerebrosidase mutations for PD is variable (10%-30%), depends on the population studied, and has only been assessed in Gaucher disease or familial PD. The aim of this study was to assess the penetrance...

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PMID: 32767585
DOI: 10.1002/mds.28200

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