The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy
Identifieur interne : 000170 ( Istex/Corpus ); précédent : 000169; suivant : 000171The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy
Auteurs : Chiara Criscuolo ; Anna De Rosa ; Anna Guacci ; Erik J. Simons ; Guido J. Breedveld ; Silvio Peluso ; Giampiero Volpe ; Alessandro Filla ; Ben A. Oostra ; Vincenzo Bonifati ; Giuseppe De MicheleSource :
- Movement Disorders [ 0885-3185 ] ; 2011-08-01.
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Abstract
Mutations in the leucine‐rich repeat kinase 2 gene are the most frequent cause of familial and sporadic Parkinson's disease, and G2019S is the most common leucine‐rich repeat kinase 2 mutation across several Mediterranean countries.
One hundred ninety‐two patients with Parkinson's disease from Campania, a region in southern Italy, were screened for R1441C/H/G and G2019S by direct sequencing and SfcI digestion.
Among 192 patients with Parkinson's disease (mean age ± SD, 63.9 ± 11.8 years; disease onset, 54.0 ± 12.5 years; family history for Parkinson's disease or tremor, 45%), 8 carried a heterozygous R1441C mutation, whereas only 1 had the G2019S mutation. All R1441C patients originate from the province of Naples and share the same haplotype, suggesting a founder effect.
G2019S is not ubiquitously the most common leucine‐rich repeat kinase 2 mutation; in Campania R1441C is more frequent. Region‐specific mutation prevalence data should be taken into account for a sensitive and cost‐effective molecular diagnosis and counseling of patients with Parkinson's disease. © 2011 Movement Disorder Society
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DOI: 10.1002/mds.23735
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ISTEX:01F670314E46C3EBD001B0382A1FDE3A22F788D9Le document en format XML
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All R1441C patients originate from the province of Naples and share the same haplotype, suggesting a founder effect.</div><div type="abstract">G2019S is not ubiquitously the most common leucine‐rich repeat kinase 2 mutation; in Campania R1441C is more frequent. Region‐specific mutation prevalence data should be taken into account for a sensitive and cost‐effective molecular diagnosis and counseling of patients with Parkinson's disease. © 2011 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Chiara Criscuolo MD, PhD</name><affiliations><json:string>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands</json:string><json:string>Department of Neurological Sciences, Federico II University, Naples, Italy</json:string><json:string>Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy</json:string></affiliations></json:item><json:item><name>Anna De Rosa MD, PhD</name><affiliations><json:string>Department of Neurological Sciences, Federico II University, Naples, Italy</json:string></affiliations></json:item><json:item><name>Anna Guacci BSc</name><affiliations><json:string>Department of Neurological Sciences, Federico II University, Naples, Italy</json:string></affiliations></json:item><json:item><name>Erik J. 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Relevant conflicts of interest/financial disclosures: Nothing to report. 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">The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy</title><author xml:id="author-1"><persName><forename type="first">Chiara</forename><surname>Criscuolo</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands</affiliation><affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</affiliation><affiliation>Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy</affiliation></author><author xml:id="author-2"><persName><forename type="first">Anna</forename><surname>De Rosa</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</affiliation></author><author xml:id="author-3"><persName><forename type="first">Anna</forename><surname>Guacci</surname></persName><roleName type="degree">BSc</roleName><affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</affiliation></author><author xml:id="author-4"><persName><forename type="first">Erik J.</forename><surname>Simons</surname></persName><affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands</affiliation></author><author xml:id="author-5"><persName><forename type="first">Guido J.</forename><surname>Breedveld</surname></persName><affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands</affiliation></author><author xml:id="author-6"><persName><forename type="first">Silvio</forename><surname>Peluso</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</affiliation></author><author xml:id="author-7"><persName><forename type="first">Giampiero</forename><surname>Volpe</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, S.Giovanni di Dio e Ruggi d'Aragona Hospital, Salerno, Italy</affiliation></author><author xml:id="author-8"><persName><forename type="first">Alessandro</forename><surname>Filla</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</affiliation></author><author xml:id="author-9"><persName><forename type="first">Ben A.</forename><surname>Oostra</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands</affiliation></author><author xml:id="author-10"><persName><forename type="first">Vincenzo</forename><surname>Bonifati</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands</affiliation></author><author xml:id="author-11"><persName><forename type="first">Giuseppe</forename><surname>De Michele</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="90"><doi origin="wiley" registered="yes">10.1002/mds.v26.9</doi><numberingGroup><numbering type="journalVolume" number="26">26</numbering><numbering type="journalIssue">9</numbering></numberingGroup><coverDate startDate="2011-08-01">1 August 2011</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="250" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.23735</doi><idGroup><id type="unit" value="MDS23735"></id></idGroup><countGroup><count type="pageTotal" number="5"></count></countGroup><titleGroup><title type="articleCategory">Brief Report</title><title type="tocHeading1">Brief Reports</title></titleGroup><copyright ownership="thirdParty">Copyright © 2011 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2010-12-11"></event><event type="manuscriptRevised" date="2011-02-22"></event><event type="manuscriptAccepted" date="2011-02-24"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:3.0.1 mode:FullText" date="2011-12-16"></event><event type="publishedOnlineEarlyUnpaginated" date="2011-04-29"></event><event type="publishedOnlineFinalForm" date="2011-08-09"></event><event type="firstOnline" date="2011-04-29"></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">1732</numbering><numbering type="pageLast">1736</numbering></numberingGroup><correspondenceTo>Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS23735.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="2"></count><count type="tableTotal" number="0"></count><count type="referenceTotal" number="20"></count><count type="wordTotal" number="2889"></count></countGroup><titleGroup><title type="main" xml:lang="en">The <i>LRRK2</i> R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy<link href="#fn1"></link></title><title type="short" xml:lang="en"><fi>LRRK2</fi> R1441C Mutation More Frequent in Southern Italy</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2" corresponding="yes"><personName><givenNames>Chiara</givenNames><familyName>Criscuolo</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email>sky569@libero.it</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Anna</givenNames><familyName>De Rosa</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Anna</givenNames><familyName>Guacci</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Erik J.</givenNames><familyName>Simons</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Guido J.</givenNames><familyName>Breedveld</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Silvio</givenNames><familyName>Peluso</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Giampiero</givenNames><familyName>Volpe</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Alessandro</givenNames><familyName>Filla</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Ben A.</givenNames><familyName>Oostra</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Vincenzo</givenNames><familyName>Bonifati</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Giuseppe</givenNames><familyName>De Michele</familyName><degrees>MD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="NL" type="organization"><unparsedAffiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="IT" type="organization"><unparsedAffiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="IT" type="organization"><unparsedAffiliation>Department of Neurology, S.Giovanni di Dio e Ruggi d'Aragona Hospital, Salerno, Italy</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">leucine‐rich repeat kinase 2</keyword><keyword xml:id="kwd2">PARK8</keyword><keyword xml:id="kwd3">R1441C</keyword><keyword xml:id="kwd4">G2019S</keyword></keywordGroup><supportingInformation><p> Additional Supporting Information may be found in the online version of this article. </p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23735:MDS_23735_sm_suppinfo"></mediaResource><caption>Supporting Information Figure</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23735:MDS_23735_sm_suppinfotab"></mediaResource><caption>Supporting Information Table 1. Clinical comparison between R1441C carriers and matched non‐carriers PD patients.</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><section xml:id="abs1-1"><title type="main">Background:</title><p>Mutations in the leucine‐rich repeat kinase 2 gene are the most frequent cause of familial and sporadic Parkinson's disease, and G2019S is the most common leucine‐rich repeat kinase 2 mutation across several Mediterranean countries.</p></section><section xml:id="abs1-2"><title type="main">Methods:</title><p>One hundred ninety‐two patients with Parkinson's disease from Campania, a region in southern Italy, were screened for R1441C/H/G and G2019S by direct sequencing and SfcI digestion.</p></section><section xml:id="abs1-3"><title type="main">Results:</title><p>Among 192 patients with Parkinson's disease (mean age ± SD, 63.9 ± 11.8 years; disease onset, 54.0 ± 12.5 years; family history for Parkinson's disease or tremor, 45%), 8 carried a heterozygous R1441C mutation, whereas only 1 had the G2019S mutation. All R1441C patients originate from the province of Naples and share the same haplotype, suggesting a founder effect.</p></section><section xml:id="abs1-4"><title type="main">Conclusions:</title><p>G2019S is not ubiquitously the most common leucine‐rich repeat kinase 2 mutation; in Campania R1441C is more frequent. Region‐specific mutation prevalence data should be taken into account for a sensitive and cost‐effective molecular diagnosis and counseling of patients with Parkinson's disease. © 2011 Movement Disorder Society</p></section></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p><b>Funding agencies</b>: This study was supported by an EFNS fellowship to Dr. Chiara Criscuolo and by a research grant from the Internationaal Parkinson Fonds (The Netherlands) to Dr. Vincenzo Bonifati.</p><p><b>Relevant conflicts of interest/financial disclosures</b>: Nothing to report.</p><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>The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>LRRK2 R1441C Mutation More Frequent in Southern Italy</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy</title></titleInfo><name type="personal"><namePart type="given">Chiara</namePart><namePart type="family">Criscuolo</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands</affiliation><affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</affiliation><affiliation>Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anna</namePart><namePart type="family">De Rosa</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anna</namePart><namePart type="family">Guacci</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Erik J.</namePart><namePart type="family">Simons</namePart><affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Guido J.</namePart><namePart type="family">Breedveld</namePart><affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Silvio</namePart><namePart type="family">Peluso</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Giampiero</namePart><namePart type="family">Volpe</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, S.Giovanni di Dio e Ruggi d'Aragona Hospital, Salerno, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alessandro</namePart><namePart type="family">Filla</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ben A.</namePart><namePart type="family">Oostra</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vincenzo</namePart><namePart type="family">Bonifati</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Giuseppe</namePart><namePart type="family">De Michele</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurological Sciences, Federico II University, Naples, Italy</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">2011-08-01</dateIssued><dateCaptured encoding="w3cdtf">2010-12-11</dateCaptured><dateValid encoding="w3cdtf">2011-02-24</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">2</extent><extent unit="references">20</extent><extent unit="words">2889</extent></physicalDescription><abstract>Mutations in the leucine‐rich repeat kinase 2 gene are the most frequent cause of familial and sporadic Parkinson's disease, and G2019S is the most common leucine‐rich repeat kinase 2 mutation across several Mediterranean countries.</abstract><abstract>One hundred ninety‐two patients with Parkinson's disease from Campania, a region in southern Italy, were screened for R1441C/H/G and G2019S by direct sequencing and SfcI digestion.</abstract><abstract>Among 192 patients with Parkinson's disease (mean age ± SD, 63.9 ± 11.8 years; disease onset, 54.0 ± 12.5 years; family history for Parkinson's disease or tremor, 45%), 8 carried a heterozygous R1441C mutation, whereas only 1 had the G2019S mutation. All R1441C patients originate from the province of Naples and share the same haplotype, suggesting a founder effect.</abstract><abstract>G2019S is not ubiquitously the most common leucine‐rich repeat kinase 2 mutation; in Campania R1441C is more frequent. Region‐specific mutation prevalence data should be taken into account for a sensitive and cost‐effective molecular diagnosis and counseling of patients with Parkinson's disease. © 2011 Movement Disorder Society</abstract><note type="content">*Funding agencies: This study was supported by an EFNS fellowship to Dr. Chiara Criscuolo and by a research grant from the Internationaal Parkinson Fonds (The Netherlands) to Dr. Vincenzo Bonifati. Relevant conflicts of interest/financial disclosures: Nothing to report. Full financial disclosures and author roles may be found in the online version of this article.</note><subject lang="en"><genre>keywords</genre><topic>leucine‐rich repeat kinase 2</topic><topic>PARK8</topic><topic>R1441C</topic><topic>G2019S</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="journal">journal</genre><note type="content"> Additional Supporting Information may be found in the online version of this article.Supporting Info Item: Supporting Information Figure - Supporting Information Table 1. Clinical comparison between R1441C carriers and matched non‐carriers PD patients. - </note><subject><genre>article-category</genre><topic>Brief Report</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>9</number></detail><extent unit="pages"><start>1732</start><end>1736</end><total>5</total></extent></part></relatedItem><identifier type="istex">01F670314E46C3EBD001B0382A1FDE3A22F788D9</identifier><identifier type="DOI">10.1002/mds.23735</identifier><identifier type="ArticleID">MDS23735</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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