Article
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.
Brain : a journal of neurology - 30 Jun 2022
Zhu William, Huang Xiaoping, Yoon Esther, Bandres-Ciga Sara, Blauwendraat Cornelis, Billingsley Kimberly J, Cade Joshua H, Wu Beverly P, Williams Victoria H, Schindler Alice B, Brooks Janet, Gibbs J Raphael, Hernandez Dena G, Ehrlich Debra, Singleton Andrew B, Narendra Derek P
Abstract excerpt
PRKN mutations are the most common recessive cause of Parkinson's disease and are a promising target for gene and cell replacement therapies. Identification of biallelic PRKN patients at the population scale, however, remains a challenge, as roughly half are copy number variants and many single nucleotide polymorphisms are of unclear significance. Additionally, the true prevalence and disease risk associated with...
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