title: Parkin mutations and phenotypic features in Czech patients with early-onset Parkinson's disease.
abstract: OBJECTIVE
  Mutations in several genes such as parkin can be detected in up to 20% of patients with early-onset Parkinson's disease (EOPD). The aim of our study was to determine the frequency of parkin alterations and phenotypic characteristics in Czech EOPD patients.
  
  
  METHODS
  A total of 45 EOPD individuals (age at onset <45 years) were phenotyped and screened for parkin mutations.
  
  
  RESULTS
  In total, 19 patients (42.2%) were carriers of previously described heterozygous genetic alterations. Parkin mutations (Ex2del, R402C) were identified in two (4.4%) cases, non-pathogenic variant A82E plus polymorphism D394N occurred in one (2.2%) patient and parkin polymorphisms (3x S167N, 1x R334C, 7x V380L, 4x D394N) were found in 15 (34.9%) individuals. Furthermore, the G2019S mutation in the LRRK2 gene was found in one (2.2%) subject.
  
  
  CONCLUSIONS
  The clinical characteristics of our patients correspond to previous descriptions of EOPD phenotype. This is the first report on EOPD-associated genetic alterations among Czech patients. Our results support the hypothesis that single heterozygous parkin variants may act as risk factors for EOPD.
authors.affiliation: Department of Neurology, 1st Medical Faculty and General Teaching Hospital, Charles University, Prague, Czech Republic.
authors.forename: Ondrej
authors.initials: O
authors.lastname: Fiala
authors.forename: Lenka
authors.initials: L
authors.lastname: Pospisilova
authors.forename: Jana
authors.initials: J
authors.lastname: Prochazkova
authors.forename: Milada
authors.initials: M
authors.lastname: Matejckova
authors.forename: Pavel
authors.initials: P
authors.lastname: Martasek
authors.forename: Lucie
authors.initials: L
authors.lastname: Novakova
authors.forename: Jan
authors.initials: J
authors.lastname: Roth
authors.forename: Evzen
authors.initials: E
authors.lastname: Ruzicka
mesh_terms: D000328:Adult; D017668:Age of Onset; D018153:Czech Republic; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein