title: Analysis of PARK2 gene exon rearrangements in Russian patients with sporadic Parkinson's disease.
abstract: BACKGROUND
  Deletions and duplications of single exons or exon groups account for a large proportion of the PARK2 gene mutations described in juvenile autosomal recessive Parkinson's disease (PD).
  
  
  METHODS
  We analyzed rearrangements in exons 1 to 12 of the PARK2 gene in Russian sporadic patients with early-onset PD (EOPD) and late-onset PD (LOPD).
  
  
  RESULTS
  The frequency of EOPD and LOPD patients carrying these mutations was 12.4% and 3.8%, respectively. The most frequent rearrangements were detected in exons 3 and 4. The odds ratio for EOPD in individuals carrying PARK2 exon deletions and duplications was 13.95 (95% confidence interval [CI], 1.846-105.46; P = .0022). In addition, we found a correlation between exon rearrangements in PARK2 and the age at onset of PD, presence of dystonia, and symmetrical course of the disease.
  
  
  CONCLUSIONS
  Exon rearrangements in the PARK2 gene play a significant role in the pathogenesis of sporadic PD in Russian patients.
authors.affiliation: Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia.
authors.forename: Elena V
authors.initials: EV
authors.lastname: Semenova
authors.forename: Maria I
authors.initials: MI
authors.lastname: Shadrina
authors.forename: Pyotr A
authors.initials: PA
authors.lastname: Slominsky
authors.forename: Irina A
authors.initials: IA
authors.lastname: Ivanova-Smolenskaya
authors.forename: Gulbakhar
authors.initials: G
authors.lastname: Bagyeva
authors.forename: Sergei N
authors.initials: SN
authors.lastname: Illarioshkin
authors.forename: Svetlana A
authors.initials: SA
authors.lastname: Limborska
mesh_terms: D000328:Adult; D000368:Aged; D005091:Exons / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D012426:Russia / Q000453:epidemiology; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D055815:Young Adult
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein