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

@article{RuzMartnez2010PenetranceIP,
  title={Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain).},
  author={Javier Ru{\'i}z-Mart{\'i}nez and Ana Gorostidi and Berta Ib{\'a}{\~n}ez and Ainhoa Alzualde and David Otaegui and Fermin Moreno and Adolfo L{\'o}pez de Mun{\'a}in and Alberto Bergareche and Juan Carlos G{\'o}mez-Esteban and Jos{\'e} F{\'e}lix Mart{\'i} Mass{\'o}},
  journal={Movement disorders : official journal of the Movement Disorder Society},
  year={2010},
  volume={25 14},
  pages={2340-5}
}
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… CONTINUE READING

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