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

✍ Scribed by Javier Ruiz-Martínez; Ana Gorostidi; Berta Ibañez; Ainhoa Alzualde; David Otaegui; Fermin Moreno; Adolfo López de Munain; Alberto Bergareche; Juan Carlos Gómez-Esteban; José F. Martí Massó

• Publisher: John Wiley and Sons
• Year: 2010
• Tongue: English
• Weight: 120 KB
• Volume: 25
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.23278

✦ Synopsis

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. © 2010 Movement Disorder Society.