Novel PINK1 mutations in early-onset parkinsonism

Yasuko Hatano, Yuanzhe Li, Kenichi Sato, Shuichi Asakawa, Yasuhiro Yamamura, Hiroyuki Tomiyama, Hiroyo Yoshino, Masato Asahina, Susumu Kobayashi, Sharon Hassin-Baer, Chin Song Lu, Arlene R. Ng, Raymond L. Rosales, Nobuyoshi Shimizu, Tatsushi Toda, Yoshikuni Mizuno, Nobutaka Hattori*

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

242 Scopus citations


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.

Original languageEnglish
Pages (from-to)424-427
Number of pages4
JournalAnnals of Neurology
Issue number3
StatePublished - 09 2004
Externally publishedYes


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