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

RuizMartínez Javier | Zendy; Gorostidi Ana | Zendy; Ibañez Berta | Zendy; Alzualde Ainhoa | Zendy; Otaegui David | Zendy; Moreno Fermin | Zendy; de Munain Adolfo López | Zendy; Bergareche Alberto | Zendy; GómezEsteban Juan Carlos | Zendy; Massó José F. Martí | Zendy

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

Author(s) -

RuizMartínez Javier,

Gorostidi Ana,

Ibañez Berta,

Alzualde Ainhoa,

Otaegui David,

Moreno Fermin,

de Munain Adolfo López,

Bergareche Alberto,

GómezEsteban Juan Carlos,

Massó José F. Martí

Publication year - 2010

Publication title -

movement disorders

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.352

H-Index - 198

eISSN - 1531-8257

pISSN - 0885-3185

DOI - 10.1002/mds.23278

Subject(s) - lrrk2 , penetrance , mutation , disease , parkinson's disease , medicine , genetics , biology , gene , phenotype

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.

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