title: Leucine-rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian.
abstract: Specific variants of Leucine-rich repeat kinase 2 (LRRK2) have been shown to associate with Parkinson's disease (PD). Several mutations have been found in PD populations from different parts of the world. We investigated the occurrence of three mutations (R1441G/C/H, G2019S, and I2020T) in our Swedish case-control material and identified four carriers of the G2019S mutation in 284 PD cases and 1 95-year-old carrier in 305 controls. The other two variants were absent in our material. We conclude that the LRRK2 G2019S mutation constitutes a significant factor for PD in the Swedish population and that it is not completely penetrant.
authors.affiliation: Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden. andrea.carmine.belin@neuro.ki.se
authors.forename: Andrea
authors.initials: A
authors.lastname: Carmine Belin
authors.forename: Marie
authors.initials: M
authors.lastname: Westerlund
authors.forename: Olof
authors.initials: O
authors.lastname: Sydow
authors.forename: Karin
authors.initials: K
authors.lastname: Lundströmer
authors.forename: Anna
authors.initials: A
authors.lastname: Håkansson
authors.forename: Hans
authors.initials: H
authors.lastname: Nissbrandt
authors.forename: Lars
authors.initials: L
authors.lastname: Olson
authors.forename: Dagmar
authors.initials: D
authors.lastname: Galter
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D006580:Genetic Carrier Screening; D014644:Genetic Variation / Q000235:genetics; D005828:Genetics, Population; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics*; D019683:Penetrance; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012016:Reference Values; D013548:Sweden
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases