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LRRK2 gene mutation

Clinical significance: - defects in LRRK2 are the cause of Parkinson disease 8 (PARK8) - LRRK2 G2019S mutation carriers with milder progression of motor symptoms than idiopathic Parkinson's disease, but no difference in cognitive function [2]

Related

leucine-rich repeat serine/threonine-protein kinase 2; dardarin (LRRK2, PARK8)

Specific

LRRK2 gene Arg1441Gly & Gly2019Ser mutation

General

gene mutation testing; gene mutation analysis

References

  1. Loinc
  2. George J. Genetic Mutation Slows Motor Symptoms in PD. Research could inform trials of new anti-Parkinson's disease drugs. MedPage Today January 11, 2018 https://www.medpagetoday.com/neurology/parkinsonsdisease/70438 - Saunders-Pullman R, Mirelman A, Alcalay RN et al Progression in the LRRK2-Asssociated Parkinson Disease Population. JAMA Neurol. Published online January 8, 2018 PMID: 29309488 https://jamanetwork.com/journals/jamaneurology/article-abstract/2668463