Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain).
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.
Ruiz-Martínez
Javier
J
Servicio de Neurología, Hospital Donostia, San Sebastián, Gipuzkoa, Spain. javier.ruizmartinez@osakidetza.net
Gorostidi
Ana
A
Ibañez
Berta
B
Alzualde
Ainhoa
A
Otaegui
David
D
Moreno
Fermin
F
López de Munain
Adolfo
A
Bergareche
Alberto
A
Gómez-Esteban
Juan Carlos
JC
Martí Massó
José F
JF
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
D001120:Arginine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005998:Glycine