Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease
Identifieur interne : 000336 ( Main/Corpus ); précédent : 000335; suivant : 000337Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease
Auteurs : William C. Nichols ; Sean K. Uniacke ; Nathan Pankratz ; Terry Reed ; David K. Simon ; Cheryl Halter ; Alice Rudolph ; Clifford W. Shults ; P. Michael Conneally ; Tatiana ForoudSource :
- Movement Disorders [ 0885-3185 ] ; 2004-06.
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- KwdEn :
Abstract
Parkinson's disease (PD) is a common neurodegenerative disorder in humans with wide variability in the age of disease onset. Although the disease has been thought previously to occur sporadically in most patients, there is increasing evidence of a genetic contribution to the disorder. Recently, a polymorphic variant within intron 6 of the Nurr1 gene was reported to be associated with sporadic and familial PD. In an effort to identify susceptibility genes for PD, we have collected 783 PD patients from 372 families and 397 healthy controls from 217 families. PD patients and healthy controls were genotyped for the intron 6 insertion polymorphism by BseRI restriction endonuclease digestion. No significant difference in either homozygosity or heterozygosity for the 7048G7049 (IVS6 1361 +16insG) polymorphism was detected in the PD patient cohort as compared with the panel of healthy controls. Moreover, direct sequencing of exon 1 of the Nurr1 gene in PD patients failed to detect either of the two recently reported Nurr1 mutations identified in a small subset of a PD patient cohort. Taken together, these data suggest that genetic alteration at the Nurr1 locus is not a significant risk factor for the development of Parkinson's disease in our large sample of familial PD patients. © 2004 Movement Disorder Society
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DOI: 10.1002/mds.20097
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Nichols</name><affiliation><mods:affiliation>Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</mods:affiliation></affiliation></author><author><name sortKey="Uniacke, Sean K" sort="Uniacke, Sean K" uniqKey="Uniacke S" first="Sean K." last="Uniacke">Sean K. Uniacke</name><affiliation><mods:affiliation>Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</mods:affiliation></affiliation></author><author><name sortKey="Pankratz, Nathan" sort="Pankratz, Nathan" uniqKey="Pankratz N" first="Nathan" last="Pankratz">Nathan Pankratz</name><affiliation><mods:affiliation>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</mods:affiliation></affiliation></author><author><name sortKey="Reed, Terry" sort="Reed, Terry" uniqKey="Reed T" first="Terry" last="Reed">Terry Reed</name><affiliation><mods:affiliation>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</mods:affiliation></affiliation></author><author><name sortKey="Simon, David K" sort="Simon, David K" uniqKey="Simon D" first="David K." last="Simon">David K. Simon</name><affiliation><mods:affiliation>Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA</mods:affiliation></affiliation></author><author><name sortKey="Halter, Cheryl" sort="Halter, Cheryl" uniqKey="Halter C" first="Cheryl" last="Halter">Cheryl Halter</name><affiliation><mods:affiliation>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</mods:affiliation></affiliation></author><author><name sortKey="Rudolph, Alice" sort="Rudolph, Alice" uniqKey="Rudolph A" first="Alice" last="Rudolph">Alice Rudolph</name><affiliation><mods:affiliation>Department of Neurology, University of Rochester, Rochester, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Shults, Clifford W" sort="Shults, Clifford W" uniqKey="Shults C" first="Clifford W." last="Shults">Clifford W. Shults</name><affiliation><mods:affiliation>Department of Neurosciences, University of California, San Diego, California, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>VA San Diego Healthcare System, San Diego, California, USA</mods:affiliation></affiliation></author><author><name sortKey="Conneally, P Michael" sort="Conneally, P Michael" uniqKey="Conneally P" first="P. Michael" last="Conneally">P. Michael Conneally</name><affiliation><mods:affiliation>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</mods:affiliation></affiliation></author><author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name><affiliation><mods:affiliation>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</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="2004-06">2004-06</date><biblScope unit="volume">19</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="649">649</biblScope><biblScope unit="page" to="655">655</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">B66BF223C9F33AA2E2D0BBB0EBA5C4A9489F9631</idno><idno type="DOI">10.1002/mds.20097</idno><idno type="ArticleID">MDS20097</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Nurr1</term><term>familial Parkinson's disease</term><term>genetic factors</term><term>intron 6 polymorphism</term><term>susceptibility locus</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkinson's disease (PD) is a common neurodegenerative disorder in humans with wide variability in the age of disease onset. Although the disease has been thought previously to occur sporadically in most patients, there is increasing evidence of a genetic contribution to the disorder. Recently, a polymorphic variant within intron 6 of the Nurr1 gene was reported to be associated with sporadic and familial PD. In an effort to identify susceptibility genes for PD, we have collected 783 PD patients from 372 families and 397 healthy controls from 217 families. PD patients and healthy controls were genotyped for the intron 6 insertion polymorphism by BseRI restriction endonuclease digestion. No significant difference in either homozygosity or heterozygosity for the 7048G7049 (IVS6 1361 +16insG) polymorphism was detected in the PD patient cohort as compared with the panel of healthy controls. Moreover, direct sequencing of exon 1 of the Nurr1 gene in PD patients failed to detect either of the two recently reported Nurr1 mutations identified in a small subset of a PD patient cohort. Taken together, these data suggest that genetic alteration at the Nurr1 locus is not a significant risk factor for the development of Parkinson's disease in our large sample of familial PD patients. © 2004 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>William C. Nichols PhD</name><affiliations><json:string>Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</json:string></affiliations></json:item><json:item><name>Sean K. Uniacke BS</name><affiliations><json:string>Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</json:string></affiliations></json:item><json:item><name>Nathan Pankratz PhD</name><affiliations><json:string>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</json:string></affiliations></json:item><json:item><name>Terry Reed PhD</name><affiliations><json:string>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</json:string></affiliations></json:item><json:item><name>David K. Simon MD, PhD</name><affiliations><json:string>Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Cheryl Halter MS</name><affiliations><json:string>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</json:string></affiliations></json:item><json:item><name>Alice Rudolph PhD</name><affiliations><json:string>Department of Neurology, University of Rochester, Rochester, New York, USA</json:string></affiliations></json:item><json:item><name>Clifford W. Shults MD</name><affiliations><json:string>Department of Neurosciences, University of California, San Diego, California, USA</json:string><json:string>VA San Diego Healthcare System, San Diego, California, USA</json:string></affiliations></json:item><json:item><name>P. Michael Conneally PhD</name><affiliations><json:string>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</json:string></affiliations></json:item><json:item><name>Tatiana Foroud PhD</name><affiliations><json:string>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Nurr1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>intron 6 polymorphism</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>familial Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>susceptibility locus</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetic factors</value></json:item></subject><articleId><json:string>MDS20097</json:string></articleId><language><json:string>eng</json:string></language><abstract>Parkinson's disease (PD) is a common neurodegenerative disorder in humans with wide variability in the age of disease onset. Although the disease has been thought previously to occur sporadically in most patients, there is increasing evidence of a genetic contribution to the disorder. Recently, a polymorphic variant within intron 6 of the Nurr1 gene was reported to be associated with sporadic and familial PD. In an effort to identify susceptibility genes for PD, we have collected 783 PD patients from 372 families and 397 healthy controls from 217 families. PD patients and healthy controls were genotyped for the intron 6 insertion polymorphism by BseRI restriction endonuclease digestion. No significant difference in either homozygosity or heterozygosity for the 7048G7049 (IVS6 1361 +16insG) polymorphism was detected in the PD patient cohort as compared with the panel of healthy controls. Moreover, direct sequencing of exon 1 of the Nurr1 gene in PD patients failed to detect either of the two recently reported Nurr1 mutations identified in a small subset of a PD patient cohort. Taken together, these data suggest that genetic alteration at the Nurr1 locus is not a significant risk factor for the development of Parkinson's disease in our large sample of familial PD patients. © 2004 Movement Disorder Society</abstract><qualityIndicators><score>7.451</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>5</keywordCount><abstractCharCount>1324</abstractCharCount><pdfWordCount>4955</pdfWordCount><pdfCharCount>30805</pdfCharCount><pdfPageCount>7</pdfPageCount><abstractWordCount>208</abstractWordCount></qualityIndicators><title>Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease</title><genre><json:string>article</json:string></genre><host><volume>19</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>7</total><last>655</last><first>649</first></pages><issn><json:string>0885-3185</json:string></issn><issue>6</issue><subject><json:item><value>Research Article</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>2004</publicationDate><copyrightDate>2004</copyrightDate><doi><json:string>10.1002/mds.20097</json:string></doi><id>B66BF223C9F33AA2E2D0BBB0EBA5C4A9489F9631</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/B66BF223C9F33AA2E2D0BBB0EBA5C4A9489F9631/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/B66BF223C9F33AA2E2D0BBB0EBA5C4A9489F9631/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/B66BF223C9F33AA2E2D0BBB0EBA5C4A9489F9631/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Evaluation of the role of Nurr1 in a large sample of familial 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>2004</date></publicationStmt><notesStmt><note>National Institutes of Health - No. NS37167; No. AG18736;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease</title><author><persName><forename type="first">William C.</forename><surname>Nichols</surname></persName><roleName type="degree">PhD</roleName><note type="correspondence"><p>Correspondence: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, 1469 TCHRF, Cincinnati, OH 45229</p></note><affiliation>Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</affiliation></author><author><persName><forename type="first">Sean K.</forename><surname>Uniacke</surname></persName><roleName type="degree">BS</roleName><affiliation>Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</affiliation></author><author><persName><forename type="first">Nathan</forename><surname>Pankratz</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</affiliation></author><author><persName><forename type="first">Terry</forename><surname>Reed</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</affiliation></author><author><persName><forename type="first">David K.</forename><surname>Simon</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA</affiliation></author><author><persName><forename type="first">Cheryl</forename><surname>Halter</surname></persName><roleName type="degree">MS</roleName><affiliation>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</affiliation></author><author><persName><forename type="first">Alice</forename><surname>Rudolph</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Neurology, University of Rochester, Rochester, New York, USA</affiliation></author><author><persName><forename type="first">Clifford W.</forename><surname>Shults</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurosciences, University of California, San Diego, California, USA</affiliation><affiliation>VA San Diego Healthcare System, San Diego, California, USA</affiliation></author><author><persName><forename type="first">P. Michael</forename><surname>Conneally</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</affiliation></author><author><persName><forename type="first">Tatiana</forename><surname>Foroud</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</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="2004-06"></date><biblScope unit="volume">19</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="649">649</biblScope><biblScope unit="page" to="655">655</biblScope></imprint></monogr><idno type="istex">B66BF223C9F33AA2E2D0BBB0EBA5C4A9489F9631</idno><idno type="DOI">10.1002/mds.20097</idno><idno type="ArticleID">MDS20097</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2004</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Parkinson's disease (PD) is a common neurodegenerative disorder in humans with wide variability in the age of disease onset. Although the disease has been thought previously to occur sporadically in most patients, there is increasing evidence of a genetic contribution to the disorder. Recently, a polymorphic variant within intron 6 of the Nurr1 gene was reported to be associated with sporadic and familial PD. In an effort to identify susceptibility genes for PD, we have collected 783 PD patients from 372 families and 397 healthy controls from 217 families. PD patients and healthy controls were genotyped for the intron 6 insertion polymorphism by BseRI restriction endonuclease digestion. No significant difference in either homozygosity or heterozygosity for the 7048G7049 (IVS6 1361 +16insG) polymorphism was detected in the PD patient cohort as compared with the panel of healthy controls. Moreover, direct sequencing of exon 1 of the Nurr1 gene in PD patients failed to detect either of the two recently reported Nurr1 mutations identified in a small subset of a PD patient cohort. Taken together, these data suggest that genetic alteration at the Nurr1 locus is not a significant risk factor for the development of Parkinson's disease in our large sample of familial PD patients. © 2004 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Nurr1</term></item><item><term>intron 6 polymorphism</term></item><item><term>familial Parkinson's disease</term></item><item><term>susceptibility locus</term></item><item><term>genetic factors</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="2003-08-18">Received</change><change when="2004-01-15">Registration</change><change when="2004-06">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/B66BF223C9F33AA2E2D0BBB0EBA5C4A9489F9631/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="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="60"><doi origin="wiley" registered="yes">10.1002/mds.v19:6</doi><numberingGroup><numbering type="journalVolume" number="19">19</numbering><numbering type="journalIssue">6</numbering></numberingGroup><coverDate startDate="2004-06">June 2004</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="60" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.20097</doi><idGroup><id type="unit" value="MDS20097"></id></idGroup><countGroup><count type="pageTotal" number="7"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2004 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2003-08-18"></event><event type="manuscriptRevised" date="2003-12-20"></event><event type="manuscriptAccepted" date="2004-01-15"></event><event type="publishedOnlineEarlyUnpaginated" date="2004-03-16"></event><event type="firstOnline" date="2004-03-16"></event><event type="publishedOnlineFinalForm" date="2004-06-03"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.2 mode:FullText source:FullText result:FullText" date="2010-03-09"></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">649</numbering><numbering type="pageLast">655</numbering></numberingGroup><correspondenceTo>Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, 1469 TCHRF, Cincinnati, OH 45229</correspondenceTo><objectNameGroup><objectName elementName="appendix">APPENDIX</objectName></objectNameGroup><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS20097.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="40"></count><count type="wordTotal" number="5513"></count></countGroup><titleGroup><title type="main" xml:lang="en">Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease</title><title type="short" xml:lang="en">Nurr1 and Familial PD</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>William C.</givenNames><familyName>Nichols</familyName><degrees>PhD</degrees></personName><contactDetails><email>bill.nichols@cchmc.org</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Sean K.</givenNames><familyName>Uniacke</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Nathan</givenNames><familyName>Pankratz</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Terry</givenNames><familyName>Reed</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af3"><personName><givenNames>David K.</givenNames><familyName>Simon</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Cheryl</givenNames><familyName>Halter</familyName><degrees>MS</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Alice</givenNames><familyName>Rudolph</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af5 #af6"><personName><givenNames>Clifford W.</givenNames><familyName>Shults</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af2"><personName><givenNames>P. Michael</givenNames><familyName>Conneally</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Tatiana</givenNames><familyName>Foroud</familyName><degrees>PhD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Rochester, Rochester, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurosciences, University of California, San Diego, California, USA</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="US" type="organization"><unparsedAffiliation>VA San Diego Healthcare System, San Diego, California, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Nurr1</keyword><keyword xml:id="kwd2">intron 6 polymorphism</keyword><keyword xml:id="kwd3">familial Parkinson's disease</keyword><keyword xml:id="kwd4">susceptibility locus</keyword><keyword xml:id="kwd5">genetic factors</keyword></keywordGroup><fundingInfo><fundingAgency>National Institutes of Health</fundingAgency><fundingNumber>NS37167</fundingNumber><fundingNumber>AG18736</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Parkinson's disease (PD) is a common neurodegenerative disorder in humans with wide variability in the age of disease onset. Although the disease has been thought previously to occur sporadically in most patients, there is increasing evidence of a genetic contribution to the disorder. Recently, a polymorphic variant within intron 6 of the Nurr1 gene was reported to be associated with sporadic and familial PD. In an effort to identify susceptibility genes for PD, we have collected 783 PD patients from 372 families and 397 healthy controls from 217 families. PD patients and healthy controls were genotyped for the intron 6 insertion polymorphism by <i>Bse</i>RI restriction endonuclease digestion. No significant difference in either homozygosity or heterozygosity for the 7048G7049 (IVS6 1361 +16insG) polymorphism was detected in the PD patient cohort as compared with the panel of healthy controls. Moreover, direct sequencing of exon 1 of the Nurr1 gene in PD patients failed to detect either of the two recently reported Nurr1 mutations identified in a small subset of a PD patient cohort. Taken together, these data suggest that genetic alteration at the Nurr1 locus is not a significant risk factor for the development of Parkinson's disease in our large sample of familial PD patients. © 2004 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Nurr1 and Familial PD</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease</title></titleInfo><name type="personal"><namePart type="given">William C.</namePart><namePart type="family">Nichols</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</affiliation><description>Correspondence: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, 1469 TCHRF, Cincinnati, OH 45229</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sean K.</namePart><namePart type="family">Uniacke</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nathan</namePart><namePart type="family">Pankratz</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Terry</namePart><namePart type="family">Reed</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David K.</namePart><namePart type="family">Simon</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Cheryl</namePart><namePart type="family">Halter</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alice</namePart><namePart type="family">Rudolph</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neurology, University of Rochester, Rochester, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Clifford W.</namePart><namePart type="family">Shults</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurosciences, University of California, San Diego, California, USA</affiliation><affiliation>VA San Diego Healthcare System, San Diego, California, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">P. Michael</namePart><namePart type="family">Conneally</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tatiana</namePart><namePart type="family">Foroud</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</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">2004-06</dateIssued><dateCaptured encoding="w3cdtf">2003-08-18</dateCaptured><dateValid encoding="w3cdtf">2004-01-15</dateValid><copyrightDate encoding="w3cdtf">2004</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">40</extent><extent unit="words">5513</extent></physicalDescription><abstract lang="en">Parkinson's disease (PD) is a common neurodegenerative disorder in humans with wide variability in the age of disease onset. Although the disease has been thought previously to occur sporadically in most patients, there is increasing evidence of a genetic contribution to the disorder. Recently, a polymorphic variant within intron 6 of the Nurr1 gene was reported to be associated with sporadic and familial PD. In an effort to identify susceptibility genes for PD, we have collected 783 PD patients from 372 families and 397 healthy controls from 217 families. PD patients and healthy controls were genotyped for the intron 6 insertion polymorphism by BseRI restriction endonuclease digestion. No significant difference in either homozygosity or heterozygosity for the 7048G7049 (IVS6 1361 +16insG) polymorphism was detected in the PD patient cohort as compared with the panel of healthy controls. Moreover, direct sequencing of exon 1 of the Nurr1 gene in PD patients failed to detect either of the two recently reported Nurr1 mutations identified in a small subset of a PD patient cohort. Taken together, these data suggest that genetic alteration at the Nurr1 locus is not a significant risk factor for the development of Parkinson's disease in our large sample of familial PD patients. © 2004 Movement Disorder Society</abstract><note type="funding">National Institutes of Health - No. NS37167; No. AG18736; </note><subject lang="en"><genre>Keywords</genre><topic>Nurr1</topic><topic>intron 6 polymorphism</topic><topic>familial Parkinson's disease</topic><topic>susceptibility locus</topic><topic>genetic factors</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. 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