title: Screening for LRRK2 mutations in patients with Parkinson's disease in Russia: identification of a novel LRRK2 variant.
abstract: OBJECTIVE
  Mutations in LRRK2, encoding leucine-rich repeat kinase 2 (or Dardarin), cause autosomal dominant Parkinson's disease (AdPD) and are also found in sporadic PD (sPD). To investigate the frequency of LRRK2 mutations in a sample of Russian PD patients.
  
  
  METHODS
  We sequenced the complete coding region of LRRK2 in 65 patients with AdPD and in 30 patients with sPD. Furthermore, in 20 patients with AdPD and in 159 patients with sPD we screened several common LRRK2 mutations (G2019S, R1441C/G/H, I2012T and I2020T).
  
  
  RESULTS
  Five AdPD patients had the LRRK2 G2019S mutation (5.9%, 5/85). In addition, we discovered a novel LRRK2 variant V1613A in a family with a tremor dominant form of AdPD; this variant was not present in controls. We identified two patients with LRRK2 mutations in sPD: one with the G2019S mutation (0.5; 1/189) and another with the previously described R1441C mutation (0,5; 1/189).
  
  
  CONCLUSIONS
  LRRK2 mutations are common amongst patients with PD in Russia. The results also show that the G2019S mutation is the most frequent. We identified one novel mutation in a functional region of LRRK2.
authors.affiliation: St. Petersburg State Pavlov Medical University, St. Petersburg, Russia. sopchelina@hotmail.com
authors.forename: S N
authors.initials: SN
authors.lastname: Pchelina
authors.forename: A F
authors.initials: AF
authors.lastname: Yakimovskii
authors.forename: A K
authors.initials: AK
authors.lastname: Emelyanov
authors.forename: O N
authors.initials: ON
authors.lastname: Ivanova
authors.forename: A L
authors.initials: AL
authors.lastname: Schwarzman
authors.forename: A B
authors.initials: AB
authors.lastname: Singleton
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012426:Russia
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases