Analysis of an early‐onset Parkinson's disease cohort for DJ‐1 mutations
Identifieur interne : 002A78 ( Istex/Corpus ); précédent : 002A77; suivant : 002A79Analysis of an early‐onset Parkinson's disease cohort for DJ‐1 mutations
Auteurs : Lorraine N. Clark ; Shehla Afridi ; Helen Mejia-Santana ; Juliette Harris ; Elan D. Louis ; Lucien J. Cote ; Howard Andrews ; Andrew Singleton ; Fabienne Wavrant De-Vrieze ; John Hardy ; Richard Mayeux ; Stanley Fahn ; Cheryl Waters ; Blair Ford ; Steven Frucht ; Ruth Ottman ; Karen MarderSource :
- Movement Disorders [ 0885-3185 ] ; 2004-07.
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Abstract
The frequency and relative contribution of DJ‐1 mutations in early‐onset Parkinson's disease (EOPD) is currently unknown. We analyzed a cohort of 89 EOPD patients (mean age at onset of PD ± SD, 41.5 ± 7.2 years), ascertained independent of family history, who participated in a study of the genetic epidemiology of PD. This study includes sequence analysis of the DJ‐1 gene in addition to assaying the 14,082‐bp deletion spanning exons 1 to 5, previously identified in a Dutch kindred, in 89 EOPD cases. A heterozygous missense mutation in exon 5 (A104T) was identified in an EOPD case of Asian ethnicity; this sequence variant was absent in 308 control chromosomes. We identified additional sequence variation in the DJ‐1 gene, including a polymorphism in the coding region in exon 5 (R98Q), three polymorphisms in the 5′ untranslated region (exon 1A/1B), and two polymorphisms in intronic regions (IVS1 and IVS5). Mutations in the DJ‐1 gene are rare in EOPD in both sporadic and familial cases. © 2004 Movement Disorder Society
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DOI: 10.1002/mds.20131
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Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Epidemiology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>The Epidemiology of Brain Disorders Department, New York State Psychiatric Institute, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><affiliation><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:8EABCAF7D49F99A3D6E8A02456C2654A532C0060</idno><date when="2004" year="2004">2004</date><idno type="doi">10.1002/mds.20131</idno><idno type="url">https://api.istex.fr/document/8EABCAF7D49F99A3D6E8A02456C2654A532C0060/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002A78</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Analysis of an early‐onset Parkinson's disease cohort for DJ‐1 mutations</title><author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N." last="Clark">Lorraine N. Clark</name><affiliation><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Pathology, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Afridi, Shehla" sort="Afridi, Shehla" uniqKey="Afridi S" first="Shehla" last="Afridi">Shehla Afridi</name><affiliation><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Mejia Antana, Helen" sort="Mejia Antana, Helen" uniqKey="Mejia Antana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Harris, Juliette" sort="Harris, Juliette" uniqKey="Harris J" first="Juliette" last="Harris">Juliette Harris</name><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D." last="Louis">Elan D. Louis</name><affiliation><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J." last="Cote">Lucien J. Cote</name><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Andrews, Howard" sort="Andrews, Howard" uniqKey="Andrews H" first="Howard" last="Andrews">Howard Andrews</name><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Epidemiology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation><mods:affiliation>Molecular Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</mods:affiliation></affiliation></author><author><name sortKey="Wavrant De Rieze, Fabienne" sort="Wavrant De Rieze, Fabienne" uniqKey="Wavrant De Rieze F" first="Fabienne" last="Wavrant De-Vrieze">Fabienne Wavrant De-Vrieze</name><affiliation><mods:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</mods:affiliation></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation><mods:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</mods:affiliation></affiliation></author><author><name sortKey="Mayeux, Richard" sort="Mayeux, Richard" uniqKey="Mayeux R" first="Richard" last="Mayeux">Richard Mayeux</name><affiliation><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Epidemiology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>The Epidemiology of Brain Disorders Department, New York State Psychiatric Institute, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><affiliation><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</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="2004-07">2004-07</date><biblScope unit="vol">19</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="796">796</biblScope><biblScope unit="page" to="800">800</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">8EABCAF7D49F99A3D6E8A02456C2654A532C0060</idno><idno type="DOI">10.1002/mds.20131</idno><idno type="ArticleID">MDS20131</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DJ‐1</term><term>Parkinson's disease</term><term>early‐onset</term><term>multiethnic cohort</term><term>mutations</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The frequency and relative contribution of DJ‐1 mutations in early‐onset Parkinson's disease (EOPD) is currently unknown. We analyzed a cohort of 89 EOPD patients (mean age at onset of PD ± SD, 41.5 ± 7.2 years), ascertained independent of family history, who participated in a study of the genetic epidemiology of PD. This study includes sequence analysis of the DJ‐1 gene in addition to assaying the 14,082‐bp deletion spanning exons 1 to 5, previously identified in a Dutch kindred, in 89 EOPD cases. A heterozygous missense mutation in exon 5 (A104T) was identified in an EOPD case of Asian ethnicity; this sequence variant was absent in 308 control chromosomes. We identified additional sequence variation in the DJ‐1 gene, including a polymorphism in the coding region in exon 5 (R98Q), three polymorphisms in the 5′ untranslated region (exon 1A/1B), and two polymorphisms in intronic regions (IVS1 and IVS5). Mutations in the DJ‐1 gene are rare in EOPD in both sporadic and familial cases. © 2004 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Lorraine N. Clark PhD</name><affiliations><json:string>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</json:string><json:string>Department of Pathology, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Shehla Afridi MSc</name><affiliations><json:string>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Helen Mejia‐Santana MSc</name><affiliations><json:string>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Juliette Harris PhD</name><affiliations><json:string>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Elan D. Louis MD, MS</name><affiliations><json:string>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</json:string><json:string>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</json:string><json:string>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Lucien J. Cote MD</name><affiliations><json:string>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</json:string><json:string>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Howard Andrews PhD</name><affiliations><json:string>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</json:string><json:string>Department of Epidemiology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Andrew Singleton PhD</name><affiliations><json:string>Molecular Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</json:string></affiliations></json:item><json:item><name>Fabienne Wavrant De‐Vrieze PhD</name><affiliations><json:string>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</json:string></affiliations></json:item><json:item><name>John Hardy PhD</name><affiliations><json:string>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</json:string></affiliations></json:item><json:item><name>Richard Mayeux MD, MSc</name><affiliations><json:string>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</json:string><json:string>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</json:string><json:string>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string><json:string>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Stanley Fahn MD</name><affiliations><json:string>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Cheryl Waters MD, FRCP</name><affiliations><json:string>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Blair Ford MD, FRCP</name><affiliations><json:string>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Steven Frucht MD</name><affiliations><json:string>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Ruth Ottman PhD</name><affiliations><json:string>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</json:string><json:string>Department of Epidemiology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string><json:string>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string><json:string>The Epidemiology of Brain Disorders Department, New York State Psychiatric Institute, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Karen Marder MD, MPH</name><affiliations><json:string>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</json:string><json:string>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</json:string><json:string>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</json:string><json:string>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</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>DJ‐1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>mutations</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>early‐onset</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>multiethnic cohort</value></json:item></subject><language><json:string>eng</json:string></language><abstract>The frequency and relative contribution of DJ‐1 mutations in early‐onset Parkinson's disease (EOPD) is currently unknown. We analyzed a cohort of 89 EOPD patients (mean age at onset of PD ± SD, 41.5 ± 7.2 years), ascertained independent of family history, who participated in a study of the genetic epidemiology of PD. This study includes sequence analysis of the DJ‐1 gene in addition to assaying the 14,082‐bp deletion spanning exons 1 to 5, previously identified in a Dutch kindred, in 89 EOPD cases. A heterozygous missense mutation in exon 5 (A104T) was identified in an EOPD case of Asian ethnicity; this sequence variant was absent in 308 control chromosomes. We identified additional sequence variation in the DJ‐1 gene, including a polymorphism in the coding region in exon 5 (R98Q), three polymorphisms in the 5′ untranslated region (exon 1A/1B), and two polymorphisms in intronic regions (IVS1 and IVS5). Mutations in the DJ‐1 gene are rare in EOPD in both sporadic and familial cases. © 2004 Movement Disorder Society</abstract><qualityIndicators><score>4.724</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1029</abstractCharCount><pdfWordCount>2720</pdfWordCount><pdfCharCount>16836</pdfCharCount><pdfPageCount>5</pdfPageCount><abstractWordCount>167</abstractWordCount></qualityIndicators><title>Analysis of an early‐onset Parkinson's disease cohort for DJ‐1 mutations</title><genre><json:string>Serial article</json:string></genre><host><volume>19</volume><pages><total>5</total><last>800</last><first>796</first></pages><issn><json:string>0885-3185</json:string></issn><issue>7</issue><subject><json:item><value>Research Article</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><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.20131</json:string></doi><id>8EABCAF7D49F99A3D6E8A02456C2654A532C0060</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/8EABCAF7D49F99A3D6E8A02456C2654A532C0060/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/8EABCAF7D49F99A3D6E8A02456C2654A532C0060/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/8EABCAF7D49F99A3D6E8A02456C2654A532C0060/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Analysis of an early‐onset Parkinson's disease cohort for DJ‐1 mutations</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2004</date></publicationStmt><notesStmt><note>National Parkinson's Disease Foundation</note><note>Parkinson's Disease Foundation</note><note>National Institutes of Health - No. NS36630; No. RR00645; No. NS39422; No. PO1AG07232;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Analysis of an early‐onset Parkinson's disease cohort for DJ‐1 mutations</title><author><persName><forename type="first">Lorraine N.</forename><surname>Clark</surname><roleName type="degree">PhD</roleName></persName><note type="correspondence"><p>Correspondence: Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, NY 10032</p></note><affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Pathology, Columbia University, New York, New York, USA</affiliation></author><author><persName><forename type="first">Shehla</forename><surname>Afridi</surname><roleName type="degree">MSc</roleName></persName><affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</affiliation></author><author><persName><forename type="first">Helen</forename><surname>Mejia‐Santana</surname><roleName type="degree">MSc</roleName></persName><affiliation>Gertrude H. 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Sergievsky Center, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation></author><author><persName><forename type="first">Stanley</forename><surname>Fahn</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation></author><author><persName><forename type="first">Cheryl</forename><surname>Waters</surname><roleName type="degree">MD, FRCP</roleName></persName><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation></author><author><persName><forename type="first">Blair</forename><surname>Ford</surname><roleName type="degree">MD, FRCP</roleName></persName><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation></author><author><persName><forename type="first">Steven</forename><surname>Frucht</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation></author><author><persName><forename type="first">Ruth</forename><surname>Ottman</surname><roleName type="degree">PhD</roleName></persName><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Epidemiology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><affiliation>The Epidemiology of Brain Disorders Department, New York State Psychiatric Institute, New York, New York, USA</affiliation></author><author><persName><forename type="first">Karen</forename><surname>Marder</surname><roleName type="degree">MD, MPH</roleName></persName><affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</affiliation><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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We analyzed a cohort of 89 EOPD patients (mean age at onset of PD ± SD, 41.5 ± 7.2 years), ascertained independent of family history, who participated in a study of the genetic epidemiology of PD. This study includes sequence analysis of the DJ‐1 gene in addition to assaying the 14,082‐bp deletion spanning exons 1 to 5, previously identified in a Dutch kindred, in 89 EOPD cases. A heterozygous missense mutation in exon 5 (A104T) was identified in an EOPD case of Asian ethnicity; this sequence variant was absent in 308 control chromosomes. We identified additional sequence variation in the DJ‐1 gene, including a polymorphism in the coding region in exon 5 (R98Q), three polymorphisms in the 5′ untranslated region (exon 1A/1B), and two polymorphisms in intronic regions (IVS1 and IVS5). Mutations in the DJ‐1 gene are rare in EOPD in both sporadic and familial cases. © 2004 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Analysis of an early‐onset Parkinson's disease cohort for DJ‐1 mutations</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Early‐Onset PD Cohort for DJ‐1 Mutations</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Analysis of an early‐onset Parkinson's disease cohort for DJ‐1 mutations</title></titleInfo><name type="personal"><namePart type="given">Lorraine N.</namePart><namePart type="family">Clark</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Pathology, Columbia University, New York, New York, USA</affiliation><description>Correspondence: Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, NY 10032</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Shehla</namePart><namePart type="family">Afridi</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Helen</namePart><namePart type="family">Mejia‐Santana</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Juliette</namePart><namePart type="family">Harris</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Elan D.</namePart><namePart type="family">Louis</namePart><namePart type="termsOfAddress">MD, MS</namePart><affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</affiliation><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lucien J.</namePart><namePart type="family">Cote</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Howard</namePart><namePart type="family">Andrews</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Epidemiology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andrew</namePart><namePart type="family">Singleton</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Molecular Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Fabienne</namePart><namePart type="family">Wavrant De‐Vrieze</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John</namePart><namePart type="family">Hardy</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Richard</namePart><namePart type="family">Mayeux</namePart><namePart type="termsOfAddress">MD, MSc</namePart><affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</affiliation><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Stanley</namePart><namePart type="family">Fahn</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Cheryl</namePart><namePart type="family">Waters</namePart><namePart type="termsOfAddress">MD, FRCP</namePart><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Blair</namePart><namePart type="family">Ford</namePart><namePart type="termsOfAddress">MD, FRCP</namePart><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Steven</namePart><namePart type="family">Frucht</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ruth</namePart><namePart type="family">Ottman</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Epidemiology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><affiliation>The Epidemiology of Brain Disorders Department, New York State Psychiatric Institute, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Karen</namePart><namePart type="family">Marder</namePart><namePart type="termsOfAddress">MD, MPH</namePart><affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</affiliation><affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2004-07</dateIssued><dateCaptured encoding="w3cdtf">2003-11-10</dateCaptured><dateValid encoding="w3cdtf">2004-02-12</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">24</extent><extent unit="words">3015</extent></physicalDescription><abstract lang="en">The frequency and relative contribution of DJ‐1 mutations in early‐onset Parkinson's disease (EOPD) is currently unknown. We analyzed a cohort of 89 EOPD patients (mean age at onset of PD ± SD, 41.5 ± 7.2 years), ascertained independent of family history, who participated in a study of the genetic epidemiology of PD. This study includes sequence analysis of the DJ‐1 gene in addition to assaying the 14,082‐bp deletion spanning exons 1 to 5, previously identified in a Dutch kindred, in 89 EOPD cases. A heterozygous missense mutation in exon 5 (A104T) was identified in an EOPD case of Asian ethnicity; this sequence variant was absent in 308 control chromosomes. We identified additional sequence variation in the DJ‐1 gene, including a polymorphism in the coding region in exon 5 (R98Q), three polymorphisms in the 5′ untranslated region (exon 1A/1B), and two polymorphisms in intronic regions (IVS1 and IVS5). Mutations in the DJ‐1 gene are rare in EOPD in both sporadic and familial cases. © 2004 Movement Disorder Society</abstract><note type="funding">National Parkinson's Disease Foundation</note><note type="funding">Parkinson's Disease Foundation</note><note type="funding">National Institutes of Health - No. NS36630; No. RR00645; No. NS39422; No. PO1AG07232; </note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>DJ‐1</topic><topic>mutations</topic><topic>early‐onset</topic><topic>multiethnic cohort</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><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>2004</date><detail type="volume"><caption>vol.</caption><number>19</number></detail><detail type="issue"><caption>no.</caption><number>7</number></detail><extent unit="pages"><start>796</start><end>800</end><total>5</total></extent></part></relatedItem><identifier type="istex">8EABCAF7D49F99A3D6E8A02456C2654A532C0060</identifier><identifier type="DOI">10.1002/mds.20131</identifier><identifier type="ArticleID">MDS20131</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2004 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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