title: Low frequency of the PARK2 gene mutations in Polish patients with the early-onset form of Parkinson disease.
abstract: OBJECTIVE
  Mutations in the PARK2 (Parkin) gene result in an early-onset autosomal recessive form of Parkinson Disease (EO-PD). Although the frequency of the PARK2 mutations in EO-PD patients according to several studies is high and has been reported in up to 50% in familial and 19% in sporadic cases, these data remain controversial.
  
  
  METHODS
  We performed PARK2 gene analysis for a group of 79 Polish EO-PD patients with onset of disease below the age of 40. All exons were directly sequenced and the exons' copy number variations were analyzed.
  
  
  RESULTS
  Mutations in PARK2 gene were found in 3 patients (3.8%), in two sporadic cases in both alleles (2.5%) and in a familial case in only one allele (1.3%). We identified point mutations as well as exon rearrangements (duplication, deletion).
  
  
  CONCLUSIONS
  The frequency of the PARK2 mutations our Polish group with EO-PD seems to be lower than in other previously described groups.
authors.affiliation: Department of Neurology, Faculty of Heath Science, Medical University of Warsaw, Kondratowicza 8, 03-242 Warsaw, Poland. dkoziorowski@esculap.pl
authors.forename: Dariusz
authors.initials: D
authors.lastname: Koziorowski
authors.forename: Dorota
authors.initials: D
authors.lastname: Hoffman-Zacharska
authors.forename: Jarosław
authors.initials: J
authors.lastname: Sławek
authors.forename: Walentyna
authors.initials: W
authors.lastname: Szirkowiec
authors.forename: Piotr
authors.initials: P
authors.lastname: Janik
authors.forename: Jerzy
authors.initials: J
authors.lastname: Bal
authors.forename: Andrzej
authors.initials: A
authors.lastname: Friedman
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D011044:Poland / Q000208:ethnology; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D055815:Young Adult
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein