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Frequency of loss of function variants in LRRK2 in Parkinson disease

JAMA Nov 17, 2018

Blauwendraat C, et al. - As pathogenic variants in LRRK2 are a relatively common genetic cause of Parkinson disease (PD), researchers investigated if LRRK1 and LRRK2 loss of function (LOF) variants contribute to the risk of developing PD. In this case-control cohort study, they used next-generation sequencing data for loss of function variants in LRRK1 and LRRK2 to screen 11,095 participants with Parkinson disease and 12,615 controls. Outcomes revealed no increased risk of Parkinson disease in correlation with LRRK1 and LRRK2 loss of function variants. In a subset of patients with Parkinson disease, kinase inhibition or allele-specific targeting of mutant LRRK2 remain viable therapeutic strategies .
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