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Background

The phenotype of Parkinson's disease (PD) is milder among patients with LRRK2-PD and more severe among patients with GBA-PD; however, whether an additive phenotypical effect occurs among dual-mutation carriers requires validation.

Objective

The objective of this study was to explore the phenotypic expression of patients with PD who carry mutations in both genes compared with a single-mutation presentation.

Methods

Patients with PD were genotyped for the G2019S-LRRK2 mutation and 9 mutations in the GBA gene. Subjects were classified into 5 groups: idiopathic PD, mild GBA-PD, severe GBA-PD, LRRK2-PD, and LRRK2+GBA-PD. Clinical symptoms were evaluated using performance-based measures.

Results

A total of 1090 patients with idiopathic PD, 155 patients with LRRK2-PD, 155 patients with mild GBA-PD, 56 patients with severe GBA-PD, and 27 patients with LRRK2+GBA-PD participated in this study. The patients with LRRK2-PD and LRRK2+GBA-PD exhibited lower scores on total Unified Parkinson's Disease Rating Scale (P < 0.01) and better olfaction (P < 0.01) compared with GBA-PD.

Conclusions

Patients with LRRK2+GBA-PD were symptomatically similar to patients with LRRK2-PD, suggesting a dominant effect of LRRK2 over GBA in the phenotypic presentation. © 2020 International Parkinson and Movement Disorder Society."xsd:string
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http://purl.uniprot.org/citations/32353202http://purl.uniprot.org/core/author"Orr-Urtreger A."xsd:string
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http://purl.uniprot.org/citations/32353202http://purl.uniprot.org/core/author"Cedarbaum J.M."xsd:string
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http://purl.uniprot.org/citations/32353202http://purl.uniprot.org/core/author"Kestenbaum M."xsd:string
http://purl.uniprot.org/citations/32353202http://purl.uniprot.org/core/author"Omer N."xsd:string
http://purl.uniprot.org/citations/32353202http://purl.uniprot.org/core/date"2020"xsd:gYear
http://purl.uniprot.org/citations/32353202http://purl.uniprot.org/core/name"Mov Disord"xsd:string
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http://purl.uniprot.org/citations/32353202http://purl.uniprot.org/core/title"A Possible Modifying Effect of the G2019S Mutation in the LRRK2 Gene on GBA Parkinson's Disease."xsd:string
http://purl.uniprot.org/citations/32353202http://purl.uniprot.org/core/volume"35"xsd:string
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