title: LRRK2 G2019S and R1441G mutations associated with Parkinson's disease are common in the Basque Country, but relative prevalence is determined by ethnicity.
abstract: Mutations in LRRK2 gene are the most frequent cause of Parkinson's disease (PD) described, but their prevalence varies between populations. Patients, 418, with PD and 138 unrelated controls from the Basque Country were screened for LRRK2 G2019S and R1441G mutations. Of the patients, 3.82% were heterozygous carriers of G2019S and 13.15% of R1441G. G2019S frequency was higher in non-Basque population (6.0%), while R1441G was more common in Basque origin population (22.4%). Our conclusion is that both G2019S and R1441G mutations' frequency varies markedly between Basque and non-Basque origin population reinforcing the importance of ethnicity consideration when establishing mutation prevalence.
authors.affiliation: Neurogenetics Laboratory, Hospital Donostia, Donostia-San Sebastián, Gipuzkoa, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Gorostidi
authors.forename: J
authors.initials: J
authors.lastname: Ruiz-Martínez
authors.forename: A
authors.initials: A
authors.lastname: Lopez de Munain
authors.forename: A
authors.initials: A
authors.lastname: Alzualde
authors.forename: J F
authors.initials: JF
authors.lastname: Martí Massó
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013030:Spain
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases