title: Parkin (PARK 2) mutations are rare in Czech patients with early-onset Parkinson's disease.
abstract: OBJECTIVE
  The aim of the study is to determine the frequency of parkin allelic variants in Czech early-onset Parkinson's disease patients and healthy controls.
  
  
  METHODS
  A total of 70 early-onset Parkinson's disease patients (age at onset ≤40 years) and 75 controls were screened for the sequence variants and exon rearrangements in the parkin gene.
  
  
  RESULTS
  Parkin mutations were identified in five patients (7.1%): the p.R334C point mutation was present in one patient, four patients had exon deletions. The detected mutations were observed in the heterozygous state except one homozygous deletion of the exon 4. No mutations were obtained in control subjects. A novel sequence variant p.V380I (c.1138G>A) was identified in one control. Non-pathogenic polymorphisms p.S167N and p.D394N were seen in similar percentage in patients and controls, polymorphism p.V380L was almost twice as frequent in controls as in patients.
  
  
  CONCLUSIONS
  Our study contributes to the growing body of evidence on the low frequency of the parkin mutations in the early-onset Parkinson's disease suggesting the potential role of other genes in the pathogenesis of the disease.
authors.affiliation: Department of Neurology and Centre of Clinical Neuroscience, 1st Faculty of Medicine and General University Hospital, Charles University, Prague, Czech Republic; Institute of Neuropsychiatric Care (INEP), Prague, Czech Republic.
authors.forename: Ondrej
authors.initials: O
authors.lastname: Fiala
authors.affiliation: Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, and General University Hospital, Charles University, Prague, Czech Republic.
authors.forename: Daniela
authors.initials: D
authors.lastname: Zahorakova
authors.affiliation: Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, and General University Hospital, Charles University, Prague, Czech Republic.
authors.forename: Lenka
authors.initials: L
authors.lastname: Pospisilova
authors.affiliation: Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, and General University Hospital, Charles University, Prague, Czech Republic.
authors.forename: Jana
authors.initials: J
authors.lastname: Kucerova
authors.affiliation: Department of Pathology and Molecular Medicine, Thomayer's University Hospital, Prague, Czech Republic.
authors.forename: Milada
authors.initials: M
authors.lastname: Matejckova
authors.affiliation: Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, and General University Hospital, Charles University, Prague, Czech Republic.
authors.forename: Pavel
authors.initials: P
authors.lastname: Martasek
authors.affiliation: Department of Neurology and Centre of Clinical Neuroscience, 1st Faculty of Medicine and General University Hospital, Charles University, Prague, Czech Republic.
authors.forename: Jan
authors.initials: J
authors.lastname: Roth
authors.affiliation: Department of Neurology and Centre of Clinical Neuroscience, 1st Faculty of Medicine and General University Hospital, Charles University, Prague, Czech Republic.
authors.forename: Evzen
authors.initials: E
authors.lastname: Ruzicka
mesh_terms: D000367:Age Factors; D018153:Czech Republic; D005838:Genotype; D006801:Humans; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D017384:Sequence Deletion; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein