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.
English descriptors
- KwdEn :
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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<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>
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<!--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>
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<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>
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</role>
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<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>
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<language><languageTerm type="code" authority="rfc3066">en</languageTerm>
<languageTerm type="code" authority="iso639-2b">eng</languageTerm>
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<extent unit="figures">1</extent>
<extent unit="tables">1</extent>
<extent unit="references">24</extent>
<extent unit="words">3015</extent>
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<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>
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<recordContentSource>WILEY</recordContentSource>
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