title: Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.
abstract: BACKGROUND
  Mutations in the PTEN-induced kinase (PINK1) gene located within the PARK6 locus on chromosome 1p35-p36 have recently been identified in patients with recessive early-onset Parkinson disease.
  
  
  OBJECTIVE
  To assess the prevalence of PINK1 mutations within a series of early- and late-onset Parkinson disease patients living in North America.
  
  
  METHODS
  All coding exons of the PINK1 gene were sequenced in a series of 289 Parkinson disease patients and 80 neurologically normal control subjects; the mutation frequencies were evaluated in additional controls (100 white and 50 Filipino subjects).
  
  
  RESULTS
  We identified 27 variants, including the first reported compound heterozygous mutation (Glu240Lys and Leu489Pro) and a homozygous Leu347Pro mutation in 2 unrelated young-onset Parkinson disease patients.
  
  
  CONCLUSIONS
  Autosomal recessive mutations in PINK1 are a rare cause of young-onset Parkinson disease.
authors.affiliation: Centre for Research in Neurodegenerative Diseases and Division of Neurology, Department of Medicine, Toronto Western Hospital, University of Toronto, Ontario, Canada.
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Rogaeva
authors.forename: Janel
authors.initials: J
authors.lastname: Johnson
authors.forename: Anthony E
authors.initials: AE
authors.lastname: Lang
authors.forename: Cindy
authors.initials: C
authors.lastname: Gulick
authors.forename: Katrina
authors.initials: K
authors.lastname: Gwinn-Hardy
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Kawarai
authors.forename: Christine
authors.initials: C
authors.lastname: Sato
authors.forename: Angharad
authors.initials: A
authors.lastname: Morgan
authors.forename: John
authors.initials: J
authors.lastname: Werner
authors.forename: Robert
authors.initials: R
authors.lastname: Nussbaum
authors.forename: Agnes
authors.initials: A
authors.lastname: Petit
authors.forename: Michael S
authors.initials: MS
authors.lastname: Okun
authors.forename: Aideen
authors.initials: A
authors.lastname: McInerney
authors.forename: Ronald
authors.initials: R
authors.lastname: Mandel
authors.forename: Justus L
authors.initials: JL
authors.lastname: Groen
authors.forename: Hubert H
authors.initials: HH
authors.lastname: Fernandez
authors.forename: Ron
authors.initials: R
authors.lastname: Postuma
authors.forename: Kelly D
authors.initials: KD
authors.lastname: Foote
authors.forename: Shabnam
authors.initials: S
authors.lastname: Salehi-Rad
authors.forename: Yan
authors.initials: Y
authors.lastname: Liang
authors.forename: Sharon
authors.initials: S
authors.lastname: Reimsnider
authors.forename: Anurag
authors.initials: A
authors.lastname: Tandon
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.forename: Peter
authors.initials: P
authors.lastname: St George-Hyslop
authors.forename: Andrew B
authors.initials: AB
authors.lastname: Singleton
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree; D011494:Protein Kinases / Q000235:genetics*; D000099202:PTEN-Induced Putative Kinase
chemical_list: D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase