Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain).
Identifieur interne : 002D89 ( Ncbi/Merge ); précédent : 002D88; suivant : 002D90Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain).
Auteurs : Javier Ruiz-Martínez [Espagne] ; Ana Gorostidi ; Berta Iba Ez ; Ainhoa Alzualde ; David Otaegui ; Fermin Moreno ; Adolfo L Pez De Munain ; Alberto Bergareche ; Juan Carlos G Mez-Esteban ; José F. Martí MassSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
Descripteurs français
- Wicri :
- geographic : Espagne.
English descriptors
- KwdEn :
- Age Factors, Aged, Aged, 80 and over, Arginine (genetics), Family, Female, Glycine (genetics), Humans, Incidence, Male, Middle Aged, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Penetrance, Polymorphism, Single Nucleotide (genetics), Protein-Serine-Threonine Kinases (genetics), Spain (epidemiology), Spain (ethnology).
- MESH :
- chemical , genetics : Arginine, Glycine, Protein-Serine-Threonine Kinases.
- geographic , epidemiology : Spain.
- epidemiology : Parkinson Disease.
- geographic , ethnology : Spain.
- genetics : Parkinson Disease, Polymorphism, Single Nucleotide.
- Age Factors, Aged, Aged, 80 and over, Family, Female, Humans, Incidence, Male, Middle Aged, Penetrance.
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.
DOI: 10.1002/mds.23278
PubMed: 20721916
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pubmed:20721916Le document en format XML
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<author><name sortKey="Ruiz Martinez, Javier" sort="Ruiz Martinez, Javier" uniqKey="Ruiz Martinez J" first="Javier" last="Ruiz-Martínez">Javier Ruiz-Martínez</name>
<affiliation wicri:level="1"><nlm:affiliation>Servicio de Neurología, Hospital Donostia, San Sebastián, Gipuzkoa, Spain. javier.ruizmartinez@osakidetza.net</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Servicio de Neurología, Hospital Donostia, San Sebastián, Gipuzkoa</wicri:regionArea>
<wicri:noRegion>Gipuzkoa</wicri:noRegion>
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<author><name sortKey="Gorostidi, Ana" sort="Gorostidi, Ana" uniqKey="Gorostidi A" first="Ana" last="Gorostidi">Ana Gorostidi</name>
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<author><name sortKey="Iba Ez, Berta" sort="Iba Ez, Berta" uniqKey="Iba Ez B" first="Berta" last="Iba Ez">Berta Iba Ez</name>
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<author><name sortKey="Otaegui, David" sort="Otaegui, David" uniqKey="Otaegui D" first="David" last="Otaegui">David Otaegui</name>
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<author><name sortKey="Moreno, Fermin" sort="Moreno, Fermin" uniqKey="Moreno F" first="Fermin" last="Moreno">Fermin Moreno</name>
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<author><name sortKey="L Pez De Munain, Adolfo" sort="L Pez De Munain, Adolfo" uniqKey="L Pez De Munain A" first="Adolfo" last="L Pez De Munain">Adolfo L Pez De Munain</name>
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<author><name sortKey="Bergareche, Alberto" sort="Bergareche, Alberto" uniqKey="Bergareche A" first="Alberto" last="Bergareche">Alberto Bergareche</name>
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<author><name sortKey="G Mez Esteban, Juan Carlos" sort="G Mez Esteban, Juan Carlos" uniqKey="G Mez Esteban J" first="Juan Carlos" last="G Mez-Esteban">Juan Carlos G Mez-Esteban</name>
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<author><name sortKey="Moreno, Fermin" sort="Moreno, Fermin" uniqKey="Moreno F" first="Fermin" last="Moreno">Fermin Moreno</name>
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<author><name sortKey="Bergareche, Alberto" sort="Bergareche, Alberto" uniqKey="Bergareche A" first="Alberto" last="Bergareche">Alberto Bergareche</name>
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<author><name sortKey="G Mez Esteban, Juan Carlos" sort="G Mez Esteban, Juan Carlos" uniqKey="G Mez Esteban J" first="Juan Carlos" last="G Mez-Esteban">Juan Carlos G Mez-Esteban</name>
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<author><name sortKey="Marti Mass, Jose F" sort="Marti Mass, Jose F" uniqKey="Marti Mass J" first="José F" last="Martí Mass">José F. Martí Mass</name>
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<term>Glycine (genetics)</term>
<term>Humans</term>
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<term>Male</term>
<term>Middle Aged</term>
<term>Parkinson Disease (epidemiology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Penetrance</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Spain (epidemiology)</term>
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<front><div type="abstract" xml:lang="en">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.</div>
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<Abstract><AbstractText>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.</AbstractText>
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