Article
Novel PINK1 mutations in early-onset parkinsonism.
Annals of neurology - 1 Sept 2004
Hatano Yasuko, Li Yuanzhe, Sato Kenichi, Asakawa Shuichi, Yamamura Yasuhiro, Tomiyama Hiroyuki, Yoshino Hiroyo, Asahina Masato, Kobayashi Susumu, Hassin-Baer Sharon, Lu Chin-Song, Ng Arlene R, Rosales Raymond L, Shimizu Nobuyoshi, Toda Tatsushi, Mizuno Yoshikuni, Hattori Nobutaka
Abstract excerpt
PINK1 was recently found to be associated with PARK6 as the causative gene. We performed mutation analysis in eight inbred families whose haplotypes link to the PARK6 region. We identified six pathogenic mutations (R246X, H271Q, E417G, L347P, and Q239X/R492X) in six unrelated families. All sites of mutations were novel, suggesting that PINK1 may be the second most common causative gene next to parkin in...
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