Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain)
Identifieur interne : 000591 ( Main/Exploration ); précédent : 000590; suivant : 000592Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain)
Auteurs : Javier Ruiz-Martínez [Espagne] ; Ana Gorostidi [Espagne] ; Berta Iba Ez [Espagne] ; Ainhoa Alzualde [Espagne] ; David Otaegui [Espagne] ; Fermin Moreno [Espagne] ; Adolfo L Pez De Munain [Espagne] ; Alberto Bergareche [Espagne] ; Juan Carlos G Mez-Esteban [Espagne] ; José F. Martí Mass [Espagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-10-30.
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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.
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DOI: 10.1002/mds.23278
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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.</div></front></TEI><affiliations><list><country><li>Espagne</li></country><region><li>Communauté de Madrid</li></region><settlement><li>Madrid</li></settlement></list><tree><country name="Espagne"><noRegion><name sortKey="Ruiz Artinez, Javier" sort="Ruiz Artinez, Javier" uniqKey="Ruiz Artinez J" first="Javier" last="Ruiz-Martínez">Javier Ruiz-Martínez</name></noRegion><name sortKey="Alzualde, Ainhoa" sort="Alzualde, Ainhoa" uniqKey="Alzualde A" first="Ainhoa" last="Alzualde">Ainhoa Alzualde</name><name sortKey="Bergareche, Alberto" sort="Bergareche, Alberto" uniqKey="Bergareche A" first="Alberto" last="Bergareche">Alberto Bergareche</name><name sortKey="De Munain, Adolfo L Pez" sort="De Munain, Adolfo L Pez" uniqKey="De Munain A" first="Adolfo L Pez" last="De Munain">Adolfo L Pez De Munain</name><name sortKey="G Mez Steban, Juan Carlos" sort="G Mez Steban, Juan Carlos" uniqKey="G Mez Steban J" first="Juan Carlos" last="G Mez-Esteban">Juan Carlos G Mez-Esteban</name><name sortKey="Gorostidi, Ana" sort="Gorostidi, Ana" uniqKey="Gorostidi A" first="Ana" last="Gorostidi">Ana Gorostidi</name><name sortKey="Iba Ez, Berta" sort="Iba Ez, Berta" uniqKey="Iba Ez B" first="Berta" last="Iba Ez">Berta Iba Ez</name><name sortKey="Mass, Jose F Marti" sort="Mass, Jose F Marti" uniqKey="Mass J" first="José F. Martí" last="Mass">José F. Martí Mass</name><name sortKey="Moreno, Fermin" sort="Moreno, Fermin" uniqKey="Moreno F" first="Fermin" last="Moreno">Fermin Moreno</name><name sortKey="Otaegui, David" sort="Otaegui, David" uniqKey="Otaegui D" first="David" last="Otaegui">David Otaegui</name><name sortKey="Ruiz Artinez, Javier" sort="Ruiz Artinez, Javier" uniqKey="Ruiz Artinez J" first="Javier" last="Ruiz-Martínez">Javier Ruiz-Martínez</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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