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Novel PINK1 mutations in early‐onset parkinsonism
Author(s) -
Hatano Yasuko,
Li Yuanzhe,
Sato Kenichi,
Asakawa Shuichi,
Yamamura Yasuhiro,
Tomiyama Hiroyuki,
Yoshino Hiroyo,
Asahina Masato,
Kobayashi Susumu,
HassinBaer Sharon,
Lu ChinSong,
Ng Arlene R.,
Rosales Raymond L.,
Shimizu Nobuyoshi,
Toda Tatsushi,
Mizuno Yoshikuni,
Hattori Nobutaka
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20251
Subject(s) - pink1 , parkinsonism , genetics , haplotype , mutation , parkin , gene , biology , inheritance (genetic algorithm) , allele , medicine , parkinson's disease , disease , autophagy , mitophagy , pathology , apoptosis
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. Ann Neurol 2004;56:424–427