Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain)

• Published in: Movement disorders 2010-10, Vol.25 (14), p.2340-2345
• Main Authors: Ruiz-Martínez, Javier, Gorostidi, Ana, Ibañez, Berta, Alzualde, Ainhoa, Otaegui, David, Moreno, Fermin, de Munain, Adolfo López, Bergareche, Alberto, Gómez-Esteban, Juan Carlos, Massó, José F. Martí
• Format: Article
• Language: English
• Subjects: Age Factors; Aged; Aged, 80 and over; Arginine - genetics; Biological and medical sciences; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Family; Female; Glycine - genetics; Humans; Incidence; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; LRRK2; Male; Medical sciences; Middle Aged; Neurology; Parkinson Disease - epidemiology; Parkinson Disease - genetics; Parkinson's disease; Penetrance; Polymorphism, Single Nucleotide - genetics; Protein-Serine-Threonine Kinases - genetics; R1441G; Spain - epidemiology; Spain - ethnology
• ISSN: 0885-3185; 1531-8257
• DOI: 10.1002/mds.23278

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. © 2010 Movement Disorder Society.