title: Analysis of LRRK 2 G 2019 S and I 2020 T mutations in Parkinson's disease.
abstract: Mutations in the leucine-rich repeat kinase 2 (LRRK 2), encoding dardarin protein, have been demonstrated to be linked to autosomal dominant Parkinson's disease (PD). In the present study the entire exon 41 of LRRK 2 gene was evaluated in a series of 174 PD patients recruited from Polish population, aged at the time of diagnosis 54.0+/-39.1 years, 21 of them had positive family history of PD with mean onset of the disease of 51.9+/-11.7 years as well as in 190 healthy controls aged 73.7+/-6.0 years. The mutations were evaluated by direct sequencing for mutations in exon 41 of LRRK 2 gene. In the studied patients no known mutations in exon 41 of LRRK 2 gene, including G 2019 S and I 2020 T were found, both in PD patients as well as in the controls. It can be concluded that the G 2019 S and I 2020 T mutations in exon 41 of LRRK 2 gene are rare causes of Parkinson disease in a Polish population.
authors.affiliation: Department of Pharmacology, Pomeranian Medical University, Powstancow Wlkp 72, 70-111 Szczecin, Poland.
authors.forename: Monika
authors.initials: M
authors.lastname: Bialecka
authors.forename: Shen
authors.initials: S
authors.lastname: Hui
authors.forename: Gabriela
authors.initials: G
authors.lastname: Klodowska-Duda
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Opala
authors.forename: Eng-King
authors.initials: EK
authors.lastname: Tan
authors.forename: Marek
authors.initials: M
authors.lastname: Drozdzik
mesh_terms: D000368:Aged; D015415:Biomarkers / Q000032:analysis; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D015994:Incidence; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000201:enzymology* / Q000453:epidemiology* / Q000235:genetics; D011044:Poland / Q000453:epidemiology; D011110:Polymorphism, Genetic; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors
chemical_list: D015415:Biomarkers; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases