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Novel PINK1 mutations in early-onset parkinsonism |
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| Authors: | 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 |
| Affiliation: | Department of Neurology, Juntendo University School of Medicine, Tokyo. |
| Abstract: | 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 parkinsonism with the recessive mode of inheritance. |
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