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Article

Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease

23 Jul 2018

Abstract excerpt

Importance: Pathogenic variants in LRRK2 are a relatively common genetic cause of Parkinson disease (PD). Currently, the molecular mechanism underlying disease is unknown, and gain and loss of function (LOF) models of pathogenesis have been postulated. LRRK2 variants are reported to result in enhanced phosphorylation of substrates and increased cell death. However, the double knockout of Lrrk2 and its homologue...

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PMID: 30039155
DOI: 10.1001/jamaneurol.2018.1885

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