MovDisordV3, PascalFrancis, Curation, bibRecord, 002476

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

Identifieur interne : 002476 ( PascalFrancis/Curation ); précédent : 002475; suivant : 002477

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.

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C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C03	`01`	`X`	`FRE`	`@0 Maladie de Parkinson @2 NM @5 01`
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C03	`01`	`X`	`SPA`	`@0 Parkinson enfermedad @2 NM @5 01`
C03	`02`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 02`
C03	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 02`
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C03	`04`	`X`	`FRE`	`@0 Mutation @5 10`
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C03	`04`	`X`	`SPA`	`@0 Mutación @5 10`
C03	`05`	`X`	`FRE`	`@0 Espagne @2 NG @5 11`
C03	`05`	`X`	`ENG`	`@0 Spain @2 NG @5 11`
C03	`05`	`X`	`SPA`	`@0 España @2 NG @5 11`
C07	`01`	`X`	`FRE`	`@0 Europe @2 NG`
C07	`01`	`X`	`ENG`	`@0 Europe @2 NG`
C07	`01`	`X`	`SPA`	`@0 Europa @2 NG`
C07	`02`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
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C07	`03`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 38`
C07	`03`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
C07	`03`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
C07	`04`	`X`	`FRE`	`@0 Maladie dégénérative @5 39`
C07	`04`	`X`	`ENG`	`@0 Degenerative disease @5 39`
C07	`04`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 39`
C07	`05`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 40`
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C07	`05`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 40`
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Pascal:10-0491590

Le document en format XML

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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>
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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="Gomez Esteban, Juan Carlos" sort="Gomez Esteban, Juan Carlos" uniqKey="Gomez Esteban J" first="Juan Carlos" last="Gomez-Esteban">Juan Carlos Gomez-Esteban</name>
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<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>
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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>
<author><name sortKey="Ruiz Martinez, Javier" sort="Ruiz Martinez, Javier" uniqKey="Ruiz Martinez J" first="Javier" last="Ruiz-Martinez">Javier Ruiz-Martinez</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Servicio de Neurología, Hospital Donostia</s1>
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<s3>ESP</s3>
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<country>Espagne</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Centro Investigación Biomédica en Red Para Enfermedades Neurodegenerativas (CIBERNED). Instituto de Salud Carlos III</s1>
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<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Gorostidi, Ana" sort="Gorostidi, Ana" uniqKey="Gorostidi A" first="Ana" last="Gorostidi">Ana Gorostidi</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Laboratorio de Neurogenética, Hospital Donostia</s1>
<s2>San Sebastián, Gipuzkoa</s2>
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<author><name sortKey="Ibanez, Berta" sort="Ibanez, Berta" uniqKey="Ibanez B" first="Berta" last="Ibanez">Berta Ibanez</name>
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<s2>Sondika, Bizkaia</s2>
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<author><name sortKey="Alzualde, Ainhoa" sort="Alzualde, Ainhoa" uniqKey="Alzualde A" first="Ainhoa" last="Alzualde">Ainhoa Alzualde</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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<s2>San Sebastián, Gipuzkoa</s2>
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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="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>
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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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<s2>Irún, Gipuzkoa</s2>
<s3>ESP</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
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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>
</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>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
</affiliation>
</author>
</analytic>
<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>
</imprint>
</series>
</biblStruct>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Gene penetrance</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Spain</term>
</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>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Espagne</term>
</keywords>
</textClass>
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</teiHeader>
<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>
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<fA11 i1="06" i2="1"><s1>MORENO (Fermin)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>LOPEZ DE MUNAIN (Adolfo)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>BERGARECHE (Alberto)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>GOMEZ-ESTEBAN (Juan Carlos)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>MARTI MASSO (José F.)</s1>
</fA11>
<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>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Centro Investigación Biomédica en Red Para Enfermedades Neurodegenerativas (CIBERNED). Instituto de Salud Carlos III</s1>
<s2>Madrid</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Laboratorio de Neurogenética, Hospital Donostia</s1>
<s2>San Sebastián, Gipuzkoa</s2>
<s3>ESP</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Fundación Vasca de Innovación e Investigación Sanitarias (BIOEF)</s1>
<s2>Sondika, Bizkaia</s2>
<s3>ESP</s3>
<sZ>3 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Servicio de Neurología, Hospital del Bidasoa</s1>
<s2>Irún, Gipuzkoa</s2>
<s3>ESP</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Servicio de Neurología, Hospital de Cruces</s1>
<s2>Barakaldo, Bizkaia</s2>
<s3>ESP</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA20><s1>2340-2345</s1>
</fA20>
<fA21><s1>2010</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000192780100120</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2010 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>29 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>10-0491590</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Maladie de Parkinson</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Pénétrance génique</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Gene penetrance</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Penetrancia génica</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Mutation</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Mutation</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Mutación</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Espagne</s0>
<s2>NG</s2>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Spain</s0>
<s2>NG</s2>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>España</s0>
<s2>NG</s2>
<s5>11</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Europe</s0>
<s2>NG</s2>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Europe</s0>
<s2>NG</s2>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Europa</s0>
<s2>NG</s2>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fN21><s1>326</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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	Movement Disorders (revue)
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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)

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