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Can I read Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain) on EtoBox?
Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain) 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 is a Medicine article available to read on EtoBox.
What is Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain) about?
## 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.
Who reads Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain)?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- 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; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 0885-3185)
- Published
- 2010
- Language
- EN
- Field
- Medicine (Health Sciences)