title: Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain).
abstract: The LRRK2 R1441G mutation was first identified in Basque families and it is responsible for 46% of familial Parkinson's disease (PD) and for 2.5% of sporadic PD in the PD population of Basque ascent. The aim of this study was to determine LRRK2 R1441G penetrance in PD in the Basque Country (Spain) to help in a more accurate genetic counseling. A total of 59 sibships containing 244 individuals, with a total of 40 PD-affected relatives, were studied. Genetic testing for the R1441G mutation in the LRRK2 gene was performed in 133 individuals and was positive in 51% of them. Lifetime penetrance of R1441G mutations turned out to be 12.5% at 65 years to 83.4% at 80 years. No gender differences were found in penetrance.
authors: Servicio de Neurología, Hospital Donostia, San Sebastián, Gipuzkoa, Spain. javier.ruizmartinez@osakidetza.net
authors: Javier
authors: J
authors: Ruiz-Martínez
authors: Ana
authors: A
authors: Gorostidi
authors: Berta
authors: B
authors: Ibañez
authors: Ainhoa
authors: A
authors: Alzualde
authors: David
authors: D
authors: Otaegui
authors: Fermin
authors: F
authors: Moreno
authors: Adolfo
authors: A
authors: López de Munain
authors: Alberto
authors: A
authors: Bergareche
authors: Juan Carlos
authors: JC
authors: Gómez-Esteban
authors: José F
authors: JF
authors: Martí Massó
mesh_terms: D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D001120:Arginine / Q000235:genetics*; D005190:Family; D005260:Female; D005998:Glycine / Q000235:genetics*; D006801:Humans; D015994:Incidence; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D019683:Penetrance; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013030:Spain / Q000453:epidemiology / Q000208:ethnology
chemical_list: D001120:Arginine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005998:Glycine