The PLA2G6 gene in early‐onset Parkinson's disease
Identifieur interne : 001A67 ( Main/Corpus ); précédent : 001A66; suivant : 001A68The PLA2G6 gene in early‐onset Parkinson's disease
Auteurs : Kai Michael Kauther ; Christine Höft ; Ida Rissling ; Wolfgang H. Oertel ; Jens Carsten MöllerSource :
- Movement Disorders [ 0885-3185 ] ; 2011-11.
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Abstract
Background:: The definite etiology of neurodegenerative disorders such as Parkinson's disease (PD) is still unknown. Because of its role in the generation of reactive oxygen species and its association with neurodegeneration with brain iron accumulation, a possible involvement of calcium‐independent group VI phospholipase A2 (iPLA2‐VI) in the pathogenesis of PD has been proposed. Methods:: In this study we analyzed all 17 exons of the PLA2G6 gene encoding iPLA2‐VI in a group of 102 discordant pairs with early‐onset Parkinson's disease (EOPD) and an additional sample of 166 EOPD patients and 155 unrelated controls. Results:: The nonsynonymous single‐nucleotide polymorphisms (SNPs) 2339A>G (n = 2) and 2341G>A (n = 1) in 2 neighboring codons were found in 3 patients with typical L‐dopa‐responsive sporadic EOPD and in none of our controls, indicating a possible role of PLA2G6 in the pathogenesis of EOPD in rare cases. Conclusions:: Future studies should investigate the prevalence of these SNPs in other PD populations and larger control groups and also address possible genetic alterations in the remaining parts of the PLA2G6 gene. © 2011 Movement Disorder Society
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DOI: 10.1002/mds.23851
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ISTEX:AF8A95F12AA325FDB644F908B01CE0C469008A56Le document en format XML
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Oertel</name><affiliation><mods:affiliation>Department of Neurology, Philipps University, Marburg, Germany</mods:affiliation></affiliation></author><author><name sortKey="Moller, Jens Carsten" sort="Moller, Jens Carsten" uniqKey="Moller J" first="Jens Carsten" last="Möller">Jens Carsten Möller</name><affiliation><mods:affiliation>Department of Neurology, Philipps University, Marburg, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Neurocenter of Southern Switzerland, Lugano, Switzerland</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:AF8A95F12AA325FDB644F908B01CE0C469008A56</idno><date when="2011" year="2011">2011</date><idno type="doi">10.1002/mds.23851</idno><idno type="url">https://api.istex.fr/document/AF8A95F12AA325FDB644F908B01CE0C469008A56/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">001A67</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">The PLA2G6 gene in early‐onset Parkinson's disease</title><author><name sortKey="Kauther, Kai Michael" sort="Kauther, Kai Michael" uniqKey="Kauther K" first="Kai Michael" last="Kauther">Kai Michael Kauther</name><affiliation><mods:affiliation>Department of Neurology, Philipps University, Marburg, Germany</mods:affiliation></affiliation></author><author><name sortKey="Hoft, Christine" sort="Hoft, Christine" uniqKey="Hoft C" first="Christine" last="Höft">Christine Höft</name><affiliation><mods:affiliation>Department of Neurology, Philipps University, Marburg, Germany</mods:affiliation></affiliation></author><author><name sortKey="Rissling, Ida" sort="Rissling, Ida" uniqKey="Rissling I" first="Ida" last="Rissling">Ida Rissling</name><affiliation><mods:affiliation>Department of Neurology, Philipps University, Marburg, Germany</mods:affiliation></affiliation></author><author><name sortKey="Oertel, Wolfgang H" sort="Oertel, Wolfgang H" uniqKey="Oertel W" first="Wolfgang H." last="Oertel">Wolfgang H. Oertel</name><affiliation><mods:affiliation>Department of Neurology, Philipps University, Marburg, Germany</mods:affiliation></affiliation></author><author><name sortKey="Moller, Jens Carsten" sort="Moller, Jens Carsten" uniqKey="Moller J" first="Jens Carsten" last="Möller">Jens Carsten Möller</name><affiliation><mods:affiliation>Department of Neurology, Philipps University, Marburg, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Neurocenter of Southern Switzerland, Lugano, Switzerland</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-11">2011-11</date><biblScope unit="volume">26</biblScope><biblScope unit="issue">13</biblScope><biblScope unit="page" from="2415">2415</biblScope><biblScope unit="page" to="2417">2417</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">AF8A95F12AA325FDB644F908B01CE0C469008A56</idno><idno type="DOI">10.1002/mds.23851</idno><idno type="ArticleID">MDS23851</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>NBIA</term><term>PARK14</term><term>Parkinson syndrome</term><term>SNP</term><term>genetics</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background:: The definite etiology of neurodegenerative disorders such as Parkinson's disease (PD) is still unknown. Because of its role in the generation of reactive oxygen species and its association with neurodegeneration with brain iron accumulation, a possible involvement of calcium‐independent group VI phospholipase A2 (iPLA2‐VI) in the pathogenesis of PD has been proposed. Methods:: In this study we analyzed all 17 exons of the PLA2G6 gene encoding iPLA2‐VI in a group of 102 discordant pairs with early‐onset Parkinson's disease (EOPD) and an additional sample of 166 EOPD patients and 155 unrelated controls. Results:: The nonsynonymous single‐nucleotide polymorphisms (SNPs) 2339A>G (n = 2) and 2341G>A (n = 1) in 2 neighboring codons were found in 3 patients with typical L‐dopa‐responsive sporadic EOPD and in none of our controls, indicating a possible role of PLA2G6 in the pathogenesis of EOPD in rare cases. Conclusions:: Future studies should investigate the prevalence of these SNPs in other PD populations and larger control groups and also address possible genetic alterations in the remaining parts of the PLA2G6 gene. © 2011 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Kai Michael Kauther MD</name><affiliations><json:string>Department of Neurology, Philipps University, Marburg, Germany</json:string></affiliations></json:item><json:item><name>Christine Höft</name><affiliations><json:string>Department of Neurology, Philipps University, Marburg, Germany</json:string></affiliations></json:item><json:item><name>Ida Rissling MD</name><affiliations><json:string>Department of Neurology, Philipps University, Marburg, Germany</json:string></affiliations></json:item><json:item><name>Wolfgang H. Oertel MD</name><affiliations><json:string>Department of Neurology, Philipps University, Marburg, Germany</json:string></affiliations></json:item><json:item><name>Jens Carsten Möller MD</name><affiliations><json:string>Department of Neurology, Philipps University, Marburg, Germany</json:string><json:string>Neurocenter of Southern Switzerland, Lugano, Switzerland</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkinson syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>NBIA</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>PARK14</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>SNP</value></json:item></subject><articleId><json:string>MDS23851</json:string></articleId><language><json:string>eng</json:string></language><abstract>Background:: The definite etiology of neurodegenerative disorders such as Parkinson's disease (PD) is still unknown. Because of its role in the generation of reactive oxygen species and its association with neurodegeneration with brain iron accumulation, a possible involvement of calcium‐independent group VI phospholipase A2 (iPLA2‐VI) in the pathogenesis of PD has been proposed. Methods:: In this study we analyzed all 17 exons of the PLA2G6 gene encoding iPLA2‐VI in a group of 102 discordant pairs with early‐onset Parkinson's disease (EOPD) and an additional sample of 166 EOPD patients and 155 unrelated controls. Results:: The nonsynonymous single‐nucleotide polymorphisms (SNPs) 2339A>G (n = 2) and 2341G>A (n = 1) in 2 neighboring codons were found in 3 patients with typical L‐dopa‐responsive sporadic EOPD and in none of our controls, indicating a possible role of PLA2G6 in the pathogenesis of EOPD in rare cases. Conclusions:: Future studies should investigate the prevalence of these SNPs in other PD populations and larger control groups and also address possible genetic alterations in the remaining parts of the PLA2G6 gene. © 2011 Movement Disorder Society</abstract><qualityIndicators><score>7.136</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>5</keywordCount><abstractCharCount>1176</abstractCharCount><pdfWordCount>14214</pdfWordCount><pdfCharCount>97058</pdfCharCount><pdfPageCount>23</pdfPageCount><abstractWordCount>178</abstractWordCount></qualityIndicators><title>The PLA2G6 gene in early‐onset Parkinson's disease</title><genre><json:string>article</json:string></genre><host><volume>26</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>3</total><last>2417</last><first>2415</first></pages><issn><json:string>0885-3185</json:string></issn><issue>13</issue><subject><json:item><value>Brief Report</value></json:item></subject><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1531-8257</json:string></eissn><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2011</publicationDate><copyrightDate>2011</copyrightDate><doi><json:string>10.1002/mds.23851</json:string></doi><id>AF8A95F12AA325FDB644F908B01CE0C469008A56</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/AF8A95F12AA325FDB644F908B01CE0C469008A56/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/AF8A95F12AA325FDB644F908B01CE0C469008A56/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/AF8A95F12AA325FDB644F908B01CE0C469008A56/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">The PLA2G6 gene in early‐onset Parkinson's disease</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: This study was supported by Kompetenznetz Parkinson (BMB+F: 01GI0201).</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">The PLA2G6 gene in early‐onset Parkinson's disease</title><author><persName><forename type="first">Kai Michael</forename><surname>Kauther</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Philipps University, Marburg, Germany</affiliation></author><author><persName><forename type="first">Christine</forename><surname>Höft</surname></persName><affiliation>Department of Neurology, Philipps University, Marburg, Germany</affiliation></author><author><persName><forename type="first">Ida</forename><surname>Rissling</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Philipps University, Marburg, Germany</affiliation></author><author><persName><forename type="first">Wolfgang H.</forename><surname>Oertel</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Philipps University, Marburg, Germany</affiliation></author><author><persName><forename type="first">Jens Carsten</forename><surname>Möller</surname></persName><roleName type="degree">MD</roleName><note type="correspondence"><p>Correspondence: Department of Neurology, Philipps University, Baldingerstr., 35043 Marburg, Germany</p></note><affiliation>Department of Neurology, Philipps University, Marburg, Germany</affiliation><affiliation>Neurocenter of Southern Switzerland, Lugano, Switzerland</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="2415">2415</biblScope><biblScope unit="page" to="2417">2417</biblScope></imprint></monogr><idno type="istex">AF8A95F12AA325FDB644F908B01CE0C469008A56</idno><idno type="DOI">10.1002/mds.23851</idno><idno type="ArticleID">MDS23851</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2011</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Background:: The definite etiology of neurodegenerative disorders such as Parkinson's disease (PD) is still unknown. Because of its role in the generation of reactive oxygen species and its association with neurodegeneration with brain iron accumulation, a possible involvement of calcium‐independent group VI phospholipase A2 (iPLA2‐VI) in the pathogenesis of PD has been proposed. Methods:: In this study we analyzed all 17 exons of the PLA2G6 gene encoding iPLA2‐VI in a group of 102 discordant pairs with early‐onset Parkinson's disease (EOPD) and an additional sample of 166 EOPD patients and 155 unrelated controls. Results:: The nonsynonymous single‐nucleotide polymorphisms (SNPs) 2339A>G (n = 2) and 2341G>A (n = 1) in 2 neighboring codons were found in 3 patients with typical L‐dopa‐responsive sporadic EOPD and in none of our controls, indicating a possible role of PLA2G6 in the pathogenesis of EOPD in rare cases. Conclusions:: Future studies should investigate the prevalence of these SNPs in other PD populations and larger control groups and also address possible genetic alterations in the remaining parts of the PLA2G6 gene. © 2011 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson syndrome</term></item><item><term>genetics</term></item><item><term>NBIA</term></item><item><term>PARK14</term></item><item><term>SNP</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Brief Report</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2010-05-25">Received</change><change when="2011-05-26">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/AF8A95F12AA325FDB644F908B01CE0C469008A56/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="180" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.23851</doi><idGroup><id type="unit" value="MDS23851"></id></idGroup><countGroup><count type="pageTotal" number="3"></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="2010-05-25"></event><event type="manuscriptRevised" date="2011-04-24"></event><event type="manuscriptAccepted" date="2011-05-26"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:3.0.1 mode:FullText" date="2011-12-13"></event><event type="publishedOnlineEarlyUnpaginated" date="2011-08-02"></event><event type="publishedOnlineFinalForm" date="2011-11-22"></event><event type="firstOnline" date="2011-08-02"></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">2415</numbering><numbering type="pageLast">2417</numbering></numberingGroup><correspondenceTo>Department of Neurology, Philipps University, Baldingerstr., 35043 Marburg, Germany</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS23851.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="19"></count><count type="wordTotal" number="2847"></count></countGroup><titleGroup><title type="main" xml:lang="en">The <i>PLA2G6</i> gene in early‐onset Parkinson's disease<link href="#fn1"></link><link href="#fn2"></link><link href="#fn3"></link></title><title type="short" xml:lang="en"><fi>PLA2G6</fi> and PD</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Kai Michael</givenNames><familyName>Kauther</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Christine</givenNames><familyName>Höft</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Ida</givenNames><familyName>Rissling</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Wolfgang H.</givenNames><familyName>Oertel</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1 #af2" corresponding="yes"><personName><givenNames>Jens Carsten</givenNames><familyName>Möller</familyName><degrees>MD</degrees></personName><contactDetails><email normalForm="carsten.moeller@med.uni-marburg.de">carsten.moeller@med.uni‐marburg.de</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, Philipps University, Marburg, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="CH" type="organization"><unparsedAffiliation>Neurocenter of Southern Switzerland, Lugano, Switzerland</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson syndrome</keyword><keyword xml:id="kwd2">genetics</keyword><keyword xml:id="kwd3">NBIA</keyword><keyword xml:id="kwd4">PARK14</keyword><keyword xml:id="kwd5">SNP</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><section xml:id="abs1-1"><title type="main">Background:</title><p>The definite etiology of neurodegenerative disorders such as Parkinson's disease (PD) is still unknown. Because of its role in the generation of reactive oxygen species and its association with neurodegeneration with brain iron accumulation, a possible involvement of calcium‐independent group VI phospholipase A<sub>2</sub> (iPLA<sub>2</sub>‐VI) in the pathogenesis of PD has been proposed.</p></section><section xml:id="abs1-2"><title type="main">Methods:</title><p>In this study we analyzed all 17 exons of the <i>PLA2G6</i> gene encoding iPLA<sub>2</sub>‐VI in a group of 102 discordant pairs with early‐onset Parkinson's disease (EOPD) and an additional sample of 166 EOPD patients and 155 unrelated controls.</p></section><section xml:id="abs1-3"><title type="main">Results:</title><p>The nonsynonymous single‐nucleotide polymorphisms (SNPs) 2339A>G (n = 2) and 2341G>A (n = 1) in 2 neighboring codons were found in 3 patients with typical <sc>L</sc>‐dopa‐responsive sporadic EOPD and in none of our controls, indicating a possible role of <i>PLA2G6</i> in the pathogenesis of EOPD in rare cases.</p></section><section xml:id="abs1-4"><title type="main">Conclusions:</title><p>Future studies should investigate the prevalence of these SNPs in other PD populations and larger control groups and also address possible genetic alterations in the remaining parts of the <i>PLA2G6</i> gene. © 2011 Movement Disorder Society</p></section></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p><b>Funding agencies:</b> This study was supported by Kompetenznetz Parkinson (BMB+F: 01GI0201).</p></note><note xml:id="fn2"><p><b>Relevant conflicts of interest/financial disclosures:</b> Nothing to report.</p></note><note xml:id="fn3"><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 PLA2G6 gene in early‐onset Parkinson's disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>PLA2G6 and PD</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>The</title></titleInfo><name type="personal"><namePart type="given">Kai Michael</namePart><namePart type="family">Kauther</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Philipps University, Marburg, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christine</namePart><namePart type="family">Höft</namePart><affiliation>Department of Neurology, Philipps University, Marburg, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ida</namePart><namePart type="family">Rissling</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Philipps University, Marburg, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Wolfgang H.</namePart><namePart type="family">Oertel</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Philipps University, Marburg, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jens Carsten</namePart><namePart type="family">Möller</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Philipps University, Marburg, Germany</affiliation><affiliation>Neurocenter of Southern Switzerland, Lugano, Switzerland</affiliation><description>Correspondence: Department of Neurology, Philipps University, Baldingerstr., 35043 Marburg, Germany</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">2010-05-25</dateCaptured><dateValid encoding="w3cdtf">2011-05-26</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="tables">2</extent><extent unit="references">19</extent><extent unit="words">2847</extent></physicalDescription><abstract lang="en">Background:: The definite etiology of neurodegenerative disorders such as Parkinson's disease (PD) is still unknown. Because of its role in the generation of reactive oxygen species and its association with neurodegeneration with brain iron accumulation, a possible involvement of calcium‐independent group VI phospholipase A2 (iPLA2‐VI) in the pathogenesis of PD has been proposed. Methods:: In this study we analyzed all 17 exons of the PLA2G6 gene encoding iPLA2‐VI in a group of 102 discordant pairs with early‐onset Parkinson's disease (EOPD) and an additional sample of 166 EOPD patients and 155 unrelated controls. Results:: The nonsynonymous single‐nucleotide polymorphisms (SNPs) 2339A>G (n = 2) and 2341G>A (n = 1) in 2 neighboring codons were found in 3 patients with typical L‐dopa‐responsive sporadic EOPD and in none of our controls, indicating a possible role of PLA2G6 in the pathogenesis of EOPD in rare cases. Conclusions:: Future studies should investigate the prevalence of these SNPs in other PD populations and larger control groups and also address possible genetic alterations in the remaining parts of the PLA2G6 gene. © 2011 Movement Disorder Society</abstract><note type="content">*Funding agencies: This study was supported by Kompetenznetz Parkinson (BMB+F: 01GI0201).</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 syndrome</topic><topic>genetics</topic><topic>NBIA</topic><topic>PARK14</topic><topic>SNP</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>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>13</number></detail><extent unit="pages"><start>2415</start><end>2417</end><total>3</total></extent></part></relatedItem><identifier type="istex">AF8A95F12AA325FDB644F908B01CE0C469008A56</identifier><identifier type="DOI">10.1002/mds.23851</identifier><identifier type="ArticleID">MDS23851</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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