Urinary LRRK2 phosphorylation Penetrating the thicket of Parkinson disease?

摘要

While the discovery of the first monogenic cause of Parkinson disease (PD) almost 2 decades ago has revolutionized our understanding of this increasingly prevalent disorder, genotype-phenotype relationships have proven to be much more complex than initially anticipated. An important reason for this observation is reduced penetrance, a conundrum referring to the surprisingly large proportion of carriers of an allegedly pathogenic mutation who do not develop the disease.(1