title: The prevalence of the G2019S and R1441C/G/H mutations in LRRK2 in German patients with Parkinson's disease.
abstract: OBJECTIVE
  The prevalence of the heterozygous G2019S and R1441C/G/H mutations in LRRK2 in patients with Parkinson's disease (PD) has shown a great variability depending on the sample population. Here we investigated the prevalence of these mutations in a large cohort of German PD patients (n = 1049).
  
  
  RESULTS
  We observed heterozygous G2019S mutations in five patients with apparently sporadic late-onset PD (LOPD; n = 3) and young-onset PD (YOPD) (one sporadic and one familial), respectively, resulting in an overall prevalence of 0.5%. No R1441C/G/H mutation was found in our sample.
  
  
  CONCLUSIONS
  In summary, the overall prevalence of the G2019S mutation in German PD patients is apparently somewhat lower than in patients from other nearby European countries. In contrast to previous reports, the G2019S mutation was also observed in apparently sporadic German LOPD patients.
authors.affiliation: Department of Neurology, Philipps-University, Marburg, Germany. carsten.moeller@med.uni-marburg.de
authors.forename: J C
authors.initials: JC
authors.lastname: Möller
authors.forename: I
authors.initials: I
authors.lastname: Rissling
authors.forename: V
authors.initials: V
authors.lastname: Mylius
authors.forename: C
authors.initials: C
authors.lastname: Höft
authors.forename: K M
authors.initials: KM
authors.lastname: Eggert
authors.forename: W H
authors.initials: WH
authors.lastname: Oertel
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005858:Germany / Q000453:epidemiology; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D015995:Prevalence; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases