title: Parkin gene variations in late-onset Parkinson's disease: comparison between Norwegian and German cohorts.
abstract: OBJECTIVE
  Mutations in the Parkin gene can cause autosomal recessive early-onset Parkinson's disease (PD). Recently, Parkin mutations were also suggested to play a role in the commoner late-onset forms of PD.
  
  
  METHODS
  We compared a German cohort of PD patients (95) with a Norwegian cohort of PD patients (96). Both cohorts have predominant late-onset form of PD. Mutation and polymorphism frequencies were compared via single-strand conformation polymorphism and sequence analyses.
  
  
  RESULTS
  Three heterozygous missense mutations (Arg256Cys, Arg402Cys and Thr240Met) were found in late-onset PD patients in the German patient cohort (1.6%). A missense mutation (Arg402Cys) was also found in one of 149 healthy control subjects (0.3%). Only one heterozygous missense mutation (Arg256Cys) was identified in a Norwegian patient suffering from late-onset PD (0.5%). The frequencies of four known single nucleotide polymorphisms significantly differ between the two distant European populations.
  
  
  CONCLUSIONS
  The results support the hypothesis that heterozygous mutations in the Parkin gene may act as susceptibility alleles for late-onset forms of PD in rare cases.
authors.affiliation: Department of Human Genetics, Ruhr-University Bochum, 44780 Bochum, Germany.
authors.forename: A M
authors.initials: AM
authors.lastname: Schlitter
authors.forename: M
authors.initials: M
authors.lastname: Kurz
authors.forename: J P
authors.initials: JP
authors.lastname: Larsen
authors.forename: D
authors.initials: D
authors.lastname: Woitalla
authors.forename: T
authors.initials: T
authors.lastname: Müller
authors.forename: J T
authors.initials: JT
authors.lastname: Epplen
authors.forename: G
authors.initials: G
authors.lastname: Dekomien
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D015331:Cohort Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005858:Germany; D006579:Heterozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D008875:Middle Aged; D020125:Mutation, Missense; D009664:Norway; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein