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Article

Imaging and genetics in Parkinson's disease: assessment of the GBA1 mutation.

Journal of neurology - 1 Oct 2022

Ghatti Sweta, Yoon Esther, Lopez Grisel, Ehrlich Debra, Horovitz Silvina G

Abstract excerpt

INTRODUCTION: Several genetic variants are associated with an increased risk for developing Parkinson's Disease (PD) and limited genotype/phenotype correlation. Specifically, mutations in GBA1, the gene coding for the lysosomal enzyme glucocerebrosidase, are associated with an earlier age of onset and faster disease progression. Given these phenotypic differences associated with GBA1 variants, we explored whether...

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Identifiers

PMID: 35604467
DOI: 10.1007/s00415-022-11181-0
PMCID: PMC10402751

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