Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease
Authors
Jung Mi Choi ; Myoung Soo Woo ; Hyeo-Il Ma ; Suk Yun Kang ; Young-Hee Sung ; Seok Woo Yong ; Sun Ju Chung ; Joong-Seok Kim ; Hae-won Shin ; Chul Hyoung Lyoo ; Phil Hyu Lee ; Jong Sam Baik ; Sang-Jin Kim ; Mee Young Park ; Young Ho Sohn ; Jin-Ho Kim ; Jae Woo Kim ; Myung Sik Lee ; Myoung Chong Lee ; Dong-Hyun Kim ; Yun Joong Kim
Parkinson disease ; Genetics of Parkinson disease ; Mutation of Mendelian genes ; Susceptibility genes of Parkinson disease ; Early-onset Parkinson disease
Abstract
Mutations in five PARK genes (SNCA, PARKIN, DJ-1, PINK1, and LRRK2) are well-established genetic causes of Parkinson disease (PD). Recently, G2385R substitution in LRRK2 has been determined as a susceptibility allele in Asian PD. The objective of this study is to determine the frequency of mutations in these PARK genes in a Korean early-onset Parkinson disease (EOPD) cohort. The authors sequenced 35 exons in SNCA, PARKIN, DJ-1, PINK1, and LRRK2 in 72 unrelated EOPD (age-at-onset