MovDisordV3, Main, Exploration, bibRecord, 001F24

Penetrance in Parkinson's Disease Related to the LRRK2 R1441G Mutation in the Basque Country (Spain)

Identifieur interne : 001F24 ( Main/Exploration ); précédent : 001F23; suivant : 001F25

Penetrance in Parkinson's Disease Related to the LRRK2 R1441G Mutation in the Basque Country (Spain)

Auteurs : Javier Ruiz-Martinez [Espagne] ; Ana Gorostidi [Espagne] ; Berta Ibanez [Espagne] ; Ainhoa Alzualde [Espagne] ; David Otaegui [Espagne] ; Fermin Moreno [Espagne] ; Adolfo Lopez De Munain [Espagne] ; Alberto Bergareche [Espagne] ; Juan Carlos Gomez-Esteban [Espagne] ; José F. Marti Masso [Espagne]

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:10-0491590

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Pénétrance génique, Mutation, Espagne.
Wicri :
- geographic : Espagne.

English descriptors

KwdEn :
- Gene penetrance, Mutation, Nervous system diseases, Parkinson disease, Spain.

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.

Affiliations:

Links toward previous steps (curation, corpus...)

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to stream PascalFrancis, to step Curation: 002476
to stream PascalFrancis, to step Checkpoint: 000906
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Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Penetrance in Parkinson's Disease Related to the LRRK2 R1441G Mutation in the Basque Country (Spain)</title>
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<author><name sortKey="Moreno, Fermin" sort="Moreno, Fermin" uniqKey="Moreno F" first="Fermin" last="Moreno">Fermin Moreno</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Servicio de Neurología, Hospital Donostia</s1>
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<author><name sortKey="Lopez De Munain, Adolfo" sort="Lopez De Munain, Adolfo" uniqKey="Lopez De Munain A" first="Adolfo" last="Lopez De Munain">Adolfo Lopez De Munain</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Servicio de Neurología, Hospital Donostia</s1>
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</author>
<author><name sortKey="Bergareche, Alberto" sort="Bergareche, Alberto" uniqKey="Bergareche A" first="Alberto" last="Bergareche">Alberto Bergareche</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Servicio de Neurología, Hospital del Bidasoa</s1>
<s2>Irún, Gipuzkoa</s2>
<s3>ESP</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
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</affiliation>
</author>
<author><name sortKey="Gomez Esteban, Juan Carlos" sort="Gomez Esteban, Juan Carlos" uniqKey="Gomez Esteban J" first="Juan Carlos" last="Gomez-Esteban">Juan Carlos Gomez-Esteban</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Servicio de Neurología, Hospital de Cruces</s1>
<s2>Barakaldo, Bizkaia</s2>
<s3>ESP</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<wicri:noRegion>Barakaldo, Bizkaia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Marti Masso, Jose F" sort="Marti Masso, Jose F" uniqKey="Marti Masso J" first="José F." last="Marti Masso">José F. Marti Masso</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Servicio de Neurología, Hospital Donostia</s1>
<s2>San Sebastián, Gipuzkoa</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
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<country>Espagne</country>
<wicri:noRegion>San Sebastián, Gipuzkoa</wicri:noRegion>
</affiliation>
</author>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2010">2010</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Gene penetrance</term>
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</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
<term>Pénétrance génique</term>
<term>Mutation</term>
<term>Espagne</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>
</front>
</TEI>
<affiliations><list><country><li>Espagne</li>
</country>
<region><li>Communauté de Madrid</li>
</region>
<settlement><li>Madrid</li>
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<tree><country name="Espagne"><noRegion><name sortKey="Ruiz Martinez, Javier" sort="Ruiz Martinez, Javier" uniqKey="Ruiz Martinez J" first="Javier" last="Ruiz-Martinez">Javier Ruiz-Martinez</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="Gomez Esteban, Juan Carlos" sort="Gomez Esteban, Juan Carlos" uniqKey="Gomez Esteban J" first="Juan Carlos" last="Gomez-Esteban">Juan Carlos Gomez-Esteban</name>
<name sortKey="Gorostidi, Ana" sort="Gorostidi, Ana" uniqKey="Gorostidi A" first="Ana" last="Gorostidi">Ana Gorostidi</name>
<name sortKey="Ibanez, Berta" sort="Ibanez, Berta" uniqKey="Ibanez B" first="Berta" last="Ibanez">Berta Ibanez</name>
<name sortKey="Lopez De Munain, Adolfo" sort="Lopez De Munain, Adolfo" uniqKey="Lopez De Munain A" first="Adolfo" last="Lopez De Munain">Adolfo Lopez De Munain</name>
<name sortKey="Marti Masso, Jose F" sort="Marti Masso, Jose F" uniqKey="Marti Masso J" first="José F." last="Marti Masso">José F. Marti Masso</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 Martinez, Javier" sort="Ruiz Martinez, Javier" uniqKey="Ruiz Martinez J" first="Javier" last="Ruiz-Martinez">Javier Ruiz-Martinez</name>
</country>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Penetrance in Parkinson's Disease Related to the LRRK2 R1441G Mutation in the Basque Country (Spain)

Penetrance in Parkinson's Disease Related to the LRRK2 R1441G Mutation in the Basque Country (Spain)

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri