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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
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.