title: Novel PINK1 mutations in early-onset parkinsonism.
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.
authors.affiliation: Department of Neurology, Juntendo University School of Medicine, Tokyo.
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Hatano
authors.forename: Yuanzhe
authors.initials: Y
authors.lastname: Li
authors.forename: Kenichi
authors.initials: K
authors.lastname: Sato
authors.forename: Shuichi
authors.initials: S
authors.lastname: Asakawa
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Yamamura
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Tomiyama
authors.forename: Hiroyo
authors.initials: H
authors.lastname: Yoshino
authors.forename: Masato
authors.initials: M
authors.lastname: Asahina
authors.forename: Susumu
authors.initials: S
authors.lastname: Kobayashi
authors.forename: Sharon
authors.initials: S
authors.lastname: Hassin-Baer
authors.forename: Chin-Song
authors.initials: CS
authors.lastname: Lu
authors.forename: Arlene R
authors.initials: AR
authors.lastname: Ng
authors.forename: Raymond L
authors.initials: RL
authors.lastname: Rosales
authors.forename: Nobuyoshi
authors.initials: N
authors.lastname: Shimizu
authors.forename: Tatsushi
authors.initials: T
authors.lastname: Toda
authors.forename: Yoshikuni
authors.initials: Y
authors.lastname: Mizuno
authors.forename: Nobutaka
authors.initials: N
authors.lastname: Hattori
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000595:Amino Acid Sequence; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D020734:Parkinsonian Disorders / Q000201:enzymology* / Q000235:genetics*; D010375:Pedigree; D011494:Protein Kinases / Q000235:genetics*; D000099202:PTEN-Induced Putative Kinase
chemical_list: D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase