Open AccessAssociation of Dual LRRK2 G2019S and GBA Variations With Parkinson Disease Progression
Author(s) -
Roberto A. Ortega,
Cuiling Wang,
Deborah Raymond,
Nicole Bryant,
Clemens R. Scherzer,
Avner Thaler,
Roy N. Alcalay,
Andrew B. West,
Anat Mirelman,
Yuliya I. Kuras,
Karen Marder,
Nir Giladi,
Laurie J. Ozelius,
Susan Bressman,
Rachel SaundersPullman
Publication year - 2021
Publication title -
jama network open
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.278
H-Index - 39
ISSN - 2574-3805
DOI - 10.1001/jamanetworkopen.2021.5845
Subject(s) - lrrk2 , parkinson's disease , montreal cognitive assessment , medicine , biomarker , disease , cognitive impairment , biology , genetics
Key Points Question What are the associations of concurrent LRRK2 G2019S and GBA variations with clinical progression of Parkinson disease (PD)? Findings In this cohort study combining data for 1193 participants with PD from multiple studies, individuals with dual LRRK2 G2019S and GBA variation PD had a slower rate of cognitive decline than those with GBA PD alone, and this was not different from individuals with LRRK2 G2019S PD alone, supporting the notion that there is a dominant association of the LRRK2 gene in individuals with both variations. There was also a novel statistical interaction between LRRK2 G2019S and GBA variations in cognitive decline. Meaning These findings suggest that there was not a convergent deleterious association of LRRK2 and GBA variations in PD progression, as would be expected based on prior cellular studies.
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