High frequency and reduced penetrance of lRRK2 g2019S mutation among Parkinson's disease patients in Cantabria (Spain)
Identifieur interne : 000C09 ( Main/Corpus ); précédent : 000C08; suivant : 000C10High frequency and reduced penetrance of lRRK2 g2019S mutation among Parkinson's disease patients in Cantabria (Spain)
Auteurs : María Sierra ; Isabel González-Aramburu ; Pascual Sánchez-Juan ; Coro Sánchez-Quintana ; José Miguel Polo ; José Berciano ; Onofre Combarros ; Jon InfanteSource :
- Movement Disorders [ 0885-3185 ] ; 2011-11.
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- KwdEn :
Abstract
The frequency and penetrance of the LRRK2 G2019S mutation varies considerably in different Parkinson disease (PD) populations. This information is essential both for clinical purposes and genetic counseling. The objective of this study was to estimate the prevalence and penetrance of the G2019S mutation of the LRRK2 gene in a small region in northern Spain (Cantabria). The G2019S mutation was tested in 367 consecutive patients with PD attended as outpatients in a tertiary Hospital in Northern Spain, and 126 at‐risk family members of probands were also investigated for G2019S mutation and disease status. The gene penetrance was estimated in terms of cumulative age‐specific incidence of PD by the Kaplan‐Meier method. Thirty‐two PD patients (8.7%) carried the G2019S mutation. Penetrance estimation of the G2019S mutation was 2% at 50 years, 12% at 60 years, 26% at 70 years, and 47% at 80 years. The frequency of the G2019S mutation of the LRRK2 gene in PD patients from Cantabria is among the highest reported so far after North African Arabs and Ashkenazi Jews. At the age of 80 years only one‐half of G2019S mutation carriers manifest motor symptoms of PD. © 2011 Movement Disorder Society
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DOI: 10.1002/mds.23965
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sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain</mods:affiliation></affiliation></author><author><name sortKey="Combarros, Onofre" sort="Combarros, Onofre" uniqKey="Combarros O" first="Onofre" last="Combarros">Onofre Combarros</name><affiliation><mods:affiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</mods:affiliation></affiliation><affiliation><mods:affiliation>Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain</mods:affiliation></affiliation></author><author><name sortKey="Infante, Jon" sort="Infante, Jon" uniqKey="Infante J" first="Jon" last="Infante">Jon Infante</name><affiliation><mods:affiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</mods:affiliation></affiliation><affiliation><mods:affiliation>Centro de 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This information is essential both for clinical purposes and genetic counseling. The objective of this study was to estimate the prevalence and penetrance of the G2019S mutation of the LRRK2 gene in a small region in northern Spain (Cantabria). The G2019S mutation was tested in 367 consecutive patients with PD attended as outpatients in a tertiary Hospital in Northern Spain, and 126 at‐risk family members of probands were also investigated for G2019S mutation and disease status. The gene penetrance was estimated in terms of cumulative age‐specific incidence of PD by the Kaplan‐Meier method. Thirty‐two PD patients (8.7%) carried the G2019S mutation. Penetrance estimation of the G2019S mutation was 2% at 50 years, 12% at 60 years, 26% at 70 years, and 47% at 80 years. The frequency of the G2019S mutation of the LRRK2 gene in PD patients from Cantabria is among the highest reported so far after North African Arabs and Ashkenazi Jews. At the age of 80 years only one‐half of G2019S mutation carriers manifest motor symptoms of PD. © 2011 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>María Sierra MD</name><affiliations><json:string>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</json:string></affiliations></json:item><json:item><name>Isabel González‐Aramburu MD</name><affiliations><json:string>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</json:string></affiliations></json:item><json:item><name>Pascual Sánchez‐Juan MD</name><affiliations><json:string>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</json:string><json:string>Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain</json:string></affiliations></json:item><json:item><name>Coro Sánchez‐Quintana Tech</name><affiliations><json:string>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</json:string><json:string>Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain</json:string></affiliations></json:item><json:item><name>José Miguel Polo MD</name><affiliations><json:string>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</json:string></affiliations></json:item><json:item><name>José Berciano MD</name><affiliations><json:string>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</json:string><json:string>Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain</json:string></affiliations></json:item><json:item><name>Onofre Combarros MD</name><affiliations><json:string>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</json:string><json:string>Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain</json:string></affiliations></json:item><json:item><name>Jon Infante MD</name><affiliations><json:string>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</json:string><json:string>Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>LRRK2</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>G2019S</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>penetrance</value></json:item></subject><articleId><json:string>MDS23965</json:string></articleId><language><json:string>eng</json:string></language><abstract>The frequency and penetrance of the LRRK2 G2019S mutation varies considerably in different Parkinson disease (PD) populations. This information is essential both for clinical purposes and genetic counseling. The objective of this study was to estimate the prevalence and penetrance of the G2019S mutation of the LRRK2 gene in a small region in northern Spain (Cantabria). The G2019S mutation was tested in 367 consecutive patients with PD attended as outpatients in a tertiary Hospital in Northern Spain, and 126 at‐risk family members of probands were also investigated for G2019S mutation and disease status. The gene penetrance was estimated in terms of cumulative age‐specific incidence of PD by the Kaplan‐Meier method. Thirty‐two PD patients (8.7%) carried the G2019S mutation. Penetrance estimation of the G2019S mutation was 2% at 50 years, 12% at 60 years, 26% at 70 years, and 47% at 80 years. The frequency of the G2019S mutation of the LRRK2 gene in PD patients from Cantabria is among the highest reported so far after North African Arabs and Ashkenazi Jews. 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uri="https://api.istex.fr/document/80A5250AE2648371A02BAB21AA02874985ADD54B/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">High frequency and reduced penetrance of lRRK2 g2019S mutation among Parkinson's disease patients in Cantabria (Spain)</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2011</date></publicationStmt><notesStmt><note type="content">*Funding agencies: Supported by grants API‐2511 and BFR‐0510 from Foundation Marqués de Valdecilla‐IFIMAV (M.S.), Centro de Investigación en Red sobre enfermedades neurodegenerativas (CIBERNED), Instituto de Salud Carlos III (J.B., P.S.J., O.C., J.I.).</note><note type="content">*Relevant conflicts of interest/financial disclosures: Nothing to report.</note><note type="content">*Full financial disclosures and author roles may be found in the online version of this article.</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">High frequency and reduced penetrance of lRRK2 g2019S mutation among Parkinson's disease patients in Cantabria (Spain)</title><author><persName><forename type="first">María</forename><surname>Sierra</surname></persName><roleName type="degree">MD</roleName><affiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</affiliation></author><author><persName><forename type="first">Isabel</forename><surname>González‐Aramburu</surname></persName><roleName type="degree">MD</roleName><affiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</affiliation></author><author><persName><forename type="first">Pascual</forename><surname>Sánchez‐Juan</surname></persName><roleName type="degree">MD</roleName><affiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</affiliation><affiliation>Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain</affiliation></author><author><persName><forename type="first">Coro</forename><surname>Sánchez‐Quintana</surname></persName><roleName type="degree">Tech</roleName><affiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</affiliation><affiliation>Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain</affiliation></author><author><persName><forename type="first">José Miguel</forename><surname>Polo</surname></persName><roleName type="degree">MD</roleName><affiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</affiliation></author><author><persName><forename type="first">José</forename><surname>Berciano</surname></persName><roleName type="degree">MD</roleName><affiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</affiliation><affiliation>Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain</affiliation></author><author><persName><forename type="first">Onofre</forename><surname>Combarros</surname></persName><roleName type="degree">MD</roleName><affiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</affiliation><affiliation>Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain</affiliation></author><author><persName><forename type="first">Jon</forename><surname>Infante</surname></persName><roleName type="degree">MD</roleName><note type="correspondence"><p>Correspondence: Service of Neurology, Universitary Hospital “Marqués de Valdecilla”, 39008‐Santander, Spain</p></note><affiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</affiliation><affiliation>Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-11"></date><biblScope unit="volume">26</biblScope><biblScope unit="issue">13</biblScope><biblScope unit="page" from="2343">2343</biblScope><biblScope unit="page" to="2346">2346</biblScope></imprint></monogr><idno type="istex">80A5250AE2648371A02BAB21AA02874985ADD54B</idno><idno type="DOI">10.1002/mds.23965</idno><idno type="ArticleID">MDS23965</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2011</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>The frequency and penetrance of the LRRK2 G2019S mutation varies considerably in different Parkinson disease (PD) populations. This information is essential both for clinical purposes and genetic counseling. The objective of this study was to estimate the prevalence and penetrance of the G2019S mutation of the LRRK2 gene in a small region in northern Spain (Cantabria). The G2019S mutation was tested in 367 consecutive patients with PD attended as outpatients in a tertiary Hospital in Northern Spain, and 126 at‐risk family members of probands were also investigated for G2019S mutation and disease status. The gene penetrance was estimated in terms of cumulative age‐specific incidence of PD by the Kaplan‐Meier method. Thirty‐two PD patients (8.7%) carried the G2019S mutation. Penetrance estimation of the G2019S mutation was 2% at 50 years, 12% at 60 years, 26% at 70 years, and 47% at 80 years. The frequency of the G2019S mutation of the LRRK2 gene in PD patients from Cantabria is among the highest reported so far after North African Arabs and Ashkenazi Jews. At the age of 80 years only one‐half of G2019S mutation carriers manifest motor symptoms of PD. © 2011 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson's disease</term></item><item><term>LRRK2</term></item><item><term>G2019S</term></item><item><term>penetrance</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="2011-06-04">Received</change><change when="2011-08-29">Registration</change><change when="2011-11">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/80A5250AE2648371A02BAB21AA02874985ADD54B/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="130"><doi origin="wiley" registered="yes">10.1002/mds.v26.13</doi><numberingGroup><numbering type="journalVolume" number="26">26</numbering><numbering type="journalIssue">13</numbering></numberingGroup><coverDate startDate="2011-11">November 2011</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="80" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.23965</doi><idGroup><id type="unit" value="MDS23965"></id></idGroup><countGroup><count type="pageTotal" number="4"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2011 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2011-06-04"></event><event type="manuscriptRevised" date="2011-08-04"></event><event type="manuscriptAccepted" date="2011-08-29"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:3.0.1 mode:FullText" date="2011-12-13"></event><event type="publishedOnlineEarlyUnpaginated" date="2011-09-27"></event><event type="publishedOnlineFinalForm" date="2011-11-22"></event><event type="firstOnline" date="2011-09-27"></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">2343</numbering><numbering type="pageLast">2346</numbering></numberingGroup><correspondenceTo>Service of Neurology, Universitary Hospital “Marqués de Valdecilla”, 39008‐Santander, Spain</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS23965.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="22"></count><count type="wordTotal" number="3366"></count></countGroup><titleGroup><title type="main" xml:lang="en">High frequency and reduced penetrance of lRRK2 g2019S mutation among Parkinson's disease patients in Cantabria (Spain)<link href="#fn2"></link><link href="#fn3"></link><link href="#fn4"></link></title><title type="short" xml:lang="en">LRRK2 G2019S Penetrance in Cantabria</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>María</givenNames><familyName>Sierra</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Isabel</givenNames><familyName>González‐Aramburu</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Pascual</givenNames><familyName>Sánchez‐Juan</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Coro</givenNames><familyName>Sánchez‐Quintana</familyName><degrees>Tech</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>José Miguel</givenNames><familyName>Polo</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>José</givenNames><familyName>Berciano</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Onofre</givenNames><familyName>Combarros</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1 #af2" corresponding="yes"><personName><givenNames>Jon</givenNames><familyName>Infante</familyName><degrees>MD</degrees></personName><contactDetails><email>jinfante@humv.es</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="ES" type="organization"><unparsedAffiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="ES" type="organization"><unparsedAffiliation>Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson's disease</keyword><keyword xml:id="kwd2">LRRK2</keyword><keyword xml:id="kwd3">G2019S</keyword><keyword xml:id="kwd4">penetrance</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The frequency and penetrance of the LRRK2 G2019S mutation varies considerably in different Parkinson disease (PD) populations. This information is essential both for clinical purposes and genetic counseling. The objective of this study was to estimate the prevalence and penetrance of the G2019S mutation of the LRRK2 gene in a small region in northern Spain (Cantabria). The G2019S mutation was tested in 367 consecutive patients with PD attended as outpatients in a tertiary Hospital in Northern Spain, and 126 at‐risk family members of probands were also investigated for G2019S mutation and disease status. The gene penetrance was estimated in terms of cumulative age‐specific incidence of PD by the Kaplan‐Meier method. Thirty‐two PD patients (8.7%) carried the G2019S mutation. Penetrance estimation of the G2019S mutation was 2% at 50 years, 12% at 60 years, 26% at 70 years, and 47% at 80 years. The frequency of the G2019S mutation of the LRRK2 gene in PD patients from Cantabria is among the highest reported so far after North African Arabs and Ashkenazi Jews. At the age of 80 years only one‐half of G2019S mutation carriers manifest motor symptoms of PD. © 2011 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn2"><p><b>Funding agencies:</b> Supported by grants API‐2511 and BFR‐0510 from Foundation Marqués de Valdecilla‐IFIMAV (M.S.), Centro de Investigación en Red sobre enfermedades neurodegenerativas (CIBERNED), Instituto de Salud Carlos III (J.B., P.S.J., O.C., J.I.).</p></note><note xml:id="fn3"><p><b>Relevant conflicts of interest/financial disclosures:</b> Nothing to report.</p></note><note xml:id="fn4"><p>Full financial disclosures and author roles may be found in the online version of this article.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>High frequency and reduced penetrance of lRRK2 g2019S mutation among Parkinson's disease patients in Cantabria (Spain)</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>LRRK2 G2019S Penetrance in Cantabria</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>High frequency and reduced penetrance of lRRK2 g2019S mutation among Parkinson's disease patients in Cantabria (Spain)</title></titleInfo><name type="personal"><namePart type="given">María</namePart><namePart type="family">Sierra</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Isabel</namePart><namePart type="family">González‐Aramburu</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Pascual</namePart><namePart type="family">Sánchez‐Juan</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</affiliation><affiliation>Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Coro</namePart><namePart type="family">Sánchez‐Quintana</namePart><namePart type="termsOfAddress">Tech</namePart><affiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</affiliation><affiliation>Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">José Miguel</namePart><namePart type="family">Polo</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">José</namePart><namePart type="family">Berciano</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</affiliation><affiliation>Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Onofre</namePart><namePart type="family">Combarros</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</affiliation><affiliation>Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jon</namePart><namePart type="family">Infante</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Service of Neurology, University Hospital “Marqués de Valdecilla,” University of Cantabria (UC), Santander, Spain</affiliation><affiliation>Centro de Investigación Biomédica en red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Spain</affiliation><description>Correspondence: Service of Neurology, Universitary Hospital “Marqués de Valdecilla”, 39008‐Santander, Spain</description><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">2011-11</dateIssued><dateCaptured encoding="w3cdtf">2011-06-04</dateCaptured><dateValid encoding="w3cdtf">2011-08-29</dateValid><copyrightDate encoding="w3cdtf">2011</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">1</extent><extent unit="references">22</extent><extent unit="words">3366</extent></physicalDescription><abstract lang="en">The frequency and penetrance of the LRRK2 G2019S mutation varies considerably in different Parkinson disease (PD) populations. This information is essential both for clinical purposes and genetic counseling. The objective of this study was to estimate the prevalence and penetrance of the G2019S mutation of the LRRK2 gene in a small region in northern Spain (Cantabria). The G2019S mutation was tested in 367 consecutive patients with PD attended as outpatients in a tertiary Hospital in Northern Spain, and 126 at‐risk family members of probands were also investigated for G2019S mutation and disease status. The gene penetrance was estimated in terms of cumulative age‐specific incidence of PD by the Kaplan‐Meier method. Thirty‐two PD patients (8.7%) carried the G2019S mutation. Penetrance estimation of the G2019S mutation was 2% at 50 years, 12% at 60 years, 26% at 70 years, and 47% at 80 years. The frequency of the G2019S mutation of the LRRK2 gene in PD patients from Cantabria is among the highest reported so far after North African Arabs and Ashkenazi Jews. At the age of 80 years only one‐half of G2019S mutation carriers manifest motor symptoms of PD. © 2011 Movement Disorder Society</abstract><note type="content">*Funding agencies: Supported by grants API‐2511 and BFR‐0510 from Foundation Marqués de Valdecilla‐IFIMAV (M.S.), Centro de Investigación en Red sobre enfermedades neurodegenerativas (CIBERNED), Instituto de Salud Carlos III (J.B., P.S.J., O.C., J.I.).</note><note type="content">*Relevant conflicts of interest/financial disclosures: Nothing to report.</note><note type="content">*Full financial disclosures and author roles may be found in the online version of this article.</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>LRRK2</topic><topic>G2019S</topic><topic>penetrance</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2011</date><detail type="volume"><caption>vol.</caption><number>26</number></detail><detail type="issue"><caption>no.</caption><number>13</number></detail><extent unit="pages"><start>2343</start><end>2346</end><total>4</total></extent></part></relatedItem><identifier type="istex">80A5250AE2648371A02BAB21AA02874985ADD54B</identifier><identifier type="DOI">10.1002/mds.23965</identifier><identifier type="ArticleID">MDS23965</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2011 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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