Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain)
Identifieur interne : 001690 ( Main/Corpus ); précédent : 001689; suivant : 001691Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain)
Auteurs : Javier Ruiz-Martínez ; 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 [ 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><istex><corpusName>wiley</corpusName><author><json:item><name>Javier Ruiz‐Martínez</name><affiliations><json:string>Servicio de Neurología, Hospital Donostia, San Sebastián, Gipuzkoa, Spain</json:string><json:string>Centro Investigación Biomédica en Red Para Enfermedades Neurodegenerativas (CIBERNED). 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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. 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Paseo Dr. Beguiristain s/n, 20014 Donostia – San Sebastián, Gipuzkoa (Spain)</p></note><affiliation>Servicio de Neurología, Hospital Donostia, San Sebastián, Gipuzkoa, Spain</affiliation><affiliation>Centro Investigación Biomédica en Red Para Enfermedades Neurodegenerativas (CIBERNED). 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No gender differences were found in penetrance. © 2010 Movement Disorder Society.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>LRRK2</term></item><item><term>penetrance</term></item><item><term>Parkinson's disease</term></item><item><term>R1441G</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2009-12-04">Received</change><change when="2010-05-06">Registration</change><change when="2010-10-30">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/246D7C19EAF511DE1658DA27897545A451DD360E/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="140"><doi origin="wiley" registered="yes">10.1002/mds.v25:14</doi><numberingGroup><numbering type="journalVolume" number="25">25</numbering><numbering type="journalIssue">14</numbering></numberingGroup><coverDate startDate="2010-10-30">30 October 2010</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="120" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.23278</doi><idGroup><id type="unit" value="MDS23278"></id></idGroup><countGroup><count type="pageTotal" number="6"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2010 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2009-12-04"></event><event type="manuscriptRevised" date="2010-01-14"></event><event type="manuscriptAccepted" date="2010-05-06"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.5.2 mode:FullText source:FullText result:FullText" date="2011-07-06"></event><event type="publishedOnlineEarlyUnpaginated" date="2010-08-18"></event><event type="publishedOnlineFinalForm" date="2010-10-25"></event><event type="firstOnline" date="2010-08-18"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">2340</numbering><numbering type="pageLast">2345</numbering></numberingGroup><correspondenceTo>Department of Neurology, Hospital Donostia. Paseo Dr. Beguiristain s/n, 20014 Donostia – San Sebastián, Gipuzkoa (Spain)</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS23278.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="29"></count><count type="wordTotal" number="4528"></count></countGroup><titleGroup><title type="main" xml:lang="en">Penetrance in Parkinson's disease related to the <i>LRRK2</i> R1441G mutation in the Basque country (Spain)<link href="#fn1"></link></title><title type="short" xml:lang="en"><i>R144G</i> Penetrance in Parkinson's Disease</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2" corresponding="yes"><personName><givenNames>Javier</givenNames><familyName>Ruiz‐Martínez</familyName></personName><contactDetails><email>javier.ruizmartinez@osakidetza.net</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Ana</givenNames><familyName>Gorostidi</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Berta</givenNames><familyName>Ibañez</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Ainhoa</givenNames><familyName>Alzualde</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af3"><personName><givenNames>David</givenNames><familyName>Otaegui</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Fermin</givenNames><familyName>Moreno</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Adolfo López</givenNames><familyName>de Munain</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Alberto</givenNames><familyName>Bergareche</familyName></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Juan Carlos</givenNames><familyName>Gómez‐Esteban</familyName></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af1"><personName><givenNames>José F. Martí</givenNames><familyName>Massó</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="ES" type="organization"><unparsedAffiliation>Servicio de Neurología, Hospital Donostia, San Sebastián, Gipuzkoa, Spain</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="ES" type="organization"><unparsedAffiliation>Centro Investigación Biomédica en Red Para Enfermedades Neurodegenerativas (CIBERNED). Instituto de Salud Carlos III, Madrid, Spain</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="ES" type="organization"><unparsedAffiliation>Laboratorio de Neurogenética, Hospital Donostia, San Sebastián, Gipuzkoa, Spain</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="ES" type="organization"><unparsedAffiliation>Fundación Vasca de Innovación e Investigación Sanitarias (BIOEF), Sondika, Bizkaia, Spain</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="ES" type="organization"><unparsedAffiliation>Servicio de Neurología, Hospital del Bidasoa, Irún, Gipuzkoa, Spain</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="ES" type="organization"><unparsedAffiliation>Servicio de Neurología, Hospital de Cruces, Barakaldo, Bizkaia, Spain</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1"><i>LRRK2</i></keyword><keyword xml:id="kwd2">penetrance</keyword><keyword xml:id="kwd3">Parkinson's disease</keyword><keyword xml:id="kwd4"><i>R1441G</i></keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The <i>LRRK2 R1441G</i> 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 <i>LRRK2 R1441G</i> 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 <i>R1441G</i> mutation in the <i>LRRK2</i> gene was performed in 133 individuals and was positive in 51% of them. Lifetime penetrance of <i>R1441G</i> 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.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Potential conflict of interest: The authors declare that they have no conflicts of interest that relate to the research covered in the article.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain)</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>R144G Penetrance in Parkinson's Disease</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Penetrance in Parkinson's disease related to the</title></titleInfo><name type="personal"><namePart type="given">Javier</namePart><namePart type="family">Ruiz‐Martínez</namePart><affiliation>Servicio de Neurología, Hospital Donostia, San Sebastián, Gipuzkoa, Spain</affiliation><affiliation>Centro Investigación Biomédica en Red Para Enfermedades Neurodegenerativas (CIBERNED). Instituto de Salud Carlos III, Madrid, Spain</affiliation><description>Correspondence: Department of Neurology, Hospital Donostia. Paseo Dr. Beguiristain s/n, 20014 Donostia – San Sebastián, Gipuzkoa (Spain)</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ana</namePart><namePart type="family">Gorostidi</namePart><affiliation>Laboratorio de Neurogenética, Hospital Donostia, San Sebastián, Gipuzkoa, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Berta</namePart><namePart type="family">Ibañez</namePart><affiliation>Fundación Vasca de Innovación e Investigación Sanitarias (BIOEF), Sondika, Bizkaia, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ainhoa</namePart><namePart type="family">Alzualde</namePart><affiliation>Laboratorio de Neurogenética, Hospital Donostia, San Sebastián, Gipuzkoa, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David</namePart><namePart type="family">Otaegui</namePart><affiliation>Laboratorio de Neurogenética, Hospital Donostia, San Sebastián, Gipuzkoa, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Fermin</namePart><namePart type="family">Moreno</namePart><affiliation>Servicio de Neurología, Hospital Donostia, San Sebastián, Gipuzkoa, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Adolfo López</namePart><namePart type="family">de Munain</namePart><affiliation>Servicio de Neurología, Hospital Donostia, San Sebastián, Gipuzkoa, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alberto</namePart><namePart type="family">Bergareche</namePart><affiliation>Servicio de Neurología, Hospital del Bidasoa, Irún, Gipuzkoa, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Juan Carlos</namePart><namePart type="family">Gómez‐Esteban</namePart><affiliation>Servicio de Neurología, Hospital de Cruces, Barakaldo, Bizkaia, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">José F. Martí</namePart><namePart type="family">Massó</namePart><affiliation>Servicio de Neurología, Hospital Donostia, San Sebastián, Gipuzkoa, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2010-10-30</dateIssued><dateCaptured encoding="w3cdtf">2009-12-04</dateCaptured><dateValid encoding="w3cdtf">2010-05-06</dateValid><copyrightDate encoding="w3cdtf">2010</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">2</extent><extent unit="references">29</extent><extent unit="words">4528</extent></physicalDescription><abstract 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. © 2010 Movement Disorder Society.</abstract><note type="content">*Potential conflict of interest: The authors declare that they have no conflicts of interest that relate to the research covered in the article.</note><subject lang="en"><genre>Keywords</genre><topic>LRRK2</topic><topic>penetrance</topic><topic>Parkinson's disease</topic><topic>R1441G</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. 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