Analysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinsons Disease

摘要

Background and PurposeThere is some controversy regarding heterozygous mutations of the gene encoding parkin (PARK2) as risk factors for Parkinson's disease (PD), and all previous studies have been performed in non-Asian populations. Dosage mutation of PARK2, rather than a point mutation or small insertion/deletion mutation, was reported to be a risk factor for familial PD; dosage mutation of PARK2 is common in Asian populations.