Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.
Identifieur interne : 003415 ( PubMed/Corpus ); précédent : 003414; suivant : 003416Analysis 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 : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.
English descriptors
- KwdEn :
- Adult, Aging (physiology), Cohort Studies, DNA Primers (genetics), Demography, Exons (genetics), Female, Gene Frequency (genetics), Humans, Intracellular Signaling Peptides and Proteins, Male, Middle Aged, Mutation, Missense (genetics), Oncogene Proteins (genetics), Parkinson Disease (epidemiology), Parkinson Disease (ethnology), Parkinson Disease (genetics), Point Mutation (genetics), Polymerase Chain Reaction, Polymorphism, Genetic (genetics).
- MESH :
- chemical , genetics : DNA Primers, Oncogene Proteins.
- epidemiology : Parkinson Disease.
- ethnology : Parkinson Disease.
- genetics : Exons, Gene Frequency, Mutation, Missense, Parkinson Disease, Point Mutation, Polymorphism, Genetic.
- physiology : Aging.
- Adult, Cohort Studies, Demography, Female, Humans, Intracellular Signaling Peptides and Proteins, Male, Middle Aged, Polymerase Chain Reaction.
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.
DOI: 10.1002/mds.20131
PubMed: 15254937
Links to Exploration step
pubmed:15254937Le document en format XML
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Clark</name><affiliation><nlm:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA. lc654@columbia.edu</nlm:affiliation></affiliation></author><author><name sortKey="Afridi, Shehla" sort="Afridi, Shehla" uniqKey="Afridi S" first="Shehla" last="Afridi">Shehla Afridi</name></author><author><name sortKey="Mejia Santana, Helen" sort="Mejia Santana, Helen" uniqKey="Mejia Santana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name></author><author><name sortKey="Harris, Juliette" sort="Harris, Juliette" uniqKey="Harris J" first="Juliette" last="Harris">Juliette Harris</name></author><author><name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D" last="Louis">Elan D. Louis</name></author><author><name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J" last="Cote">Lucien J. 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Clark</name><affiliation><nlm:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA. lc654@columbia.edu</nlm:affiliation></affiliation></author><author><name sortKey="Afridi, Shehla" sort="Afridi, Shehla" uniqKey="Afridi S" first="Shehla" last="Afridi">Shehla Afridi</name></author><author><name sortKey="Mejia Santana, Helen" sort="Mejia Santana, Helen" uniqKey="Mejia Santana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name></author><author><name sortKey="Harris, Juliette" sort="Harris, Juliette" uniqKey="Harris J" first="Juliette" last="Harris">Juliette Harris</name></author><author><name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D" last="Louis">Elan D. Louis</name></author><author><name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J" last="Cote">Lucien J. Cote</name></author><author><name sortKey="Andrews, Howard" sort="Andrews, Howard" uniqKey="Andrews H" first="Howard" last="Andrews">Howard Andrews</name></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></author><author><name sortKey="Wavrant De Vrieze, Fabienne" sort="Wavrant De Vrieze, Fabienne" uniqKey="Wavrant De Vrieze F" first="Fabienne" last="Wavrant De-Vrieze">Fabienne Wavrant De-Vrieze</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Mayeux, Richard" sort="Mayeux, Richard" uniqKey="Mayeux R" first="Richard" last="Mayeux">Richard Mayeux</name></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name></author><author><name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name></author><author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name></author><author><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name></author><author><name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2004" type="published">2004</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aging (physiology)</term><term>Cohort Studies</term><term>DNA Primers (genetics)</term><term>Demography</term><term>Exons (genetics)</term><term>Female</term><term>Gene Frequency (genetics)</term><term>Humans</term><term>Intracellular Signaling Peptides and Proteins</term><term>Male</term><term>Middle Aged</term><term>Mutation, Missense (genetics)</term><term>Oncogene Proteins (genetics)</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (ethnology)</term><term>Parkinson Disease (genetics)</term><term>Point Mutation (genetics)</term><term>Polymerase Chain Reaction</term><term>Polymorphism, Genetic (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Primers</term><term>Oncogene Proteins</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Gene Frequency</term><term>Mutation, Missense</term><term>Parkinson Disease</term><term>Point Mutation</term><term>Polymorphism, Genetic</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Aging</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Cohort Studies</term><term>Demography</term><term>Female</term><term>Humans</term><term>Intracellular Signaling Peptides and Proteins</term><term>Male</term><term>Middle Aged</term><term>Polymerase Chain Reaction</term></keywords></textClass></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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">15254937</PMID><DateCreated><Year>2004</Year><Month>07</Month><Day>15</Day></DateCreated><DateCompleted><Year>2004</Year><Month>11</Month><Day>08</Day></DateCompleted><DateRevised><Year>2007</Year><Month>11</Month><Day>14</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>19</Volume><Issue>7</Issue><PubDate><Year>2004</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.</ArticleTitle><Pagination><MedlinePgn>796-800</MedlinePgn></Pagination><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>Copyright 2004 Movement Disorder Society</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Clark</LastName><ForeName>Lorraine N</ForeName><Initials>LN</Initials><AffiliationInfo><Affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA. lc654@columbia.edu</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Afridi</LastName><ForeName>Shehla</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Mejia-Santana</LastName><ForeName>Helen</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Harris</LastName><ForeName>Juliette</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Louis</LastName><ForeName>Elan D</ForeName><Initials>ED</Initials></Author><Author ValidYN="Y"><LastName>Cote</LastName><ForeName>Lucien J</ForeName><Initials>LJ</Initials></Author><Author ValidYN="Y"><LastName>Andrews</LastName><ForeName>Howard</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Singleton</LastName><ForeName>Andrew</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Wavrant De-Vrieze</LastName><ForeName>Fabienne</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Hardy</LastName><ForeName>John</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Mayeux</LastName><ForeName>Richard</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Fahn</LastName><ForeName>Stanley</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Waters</LastName><ForeName>Cheryl</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Ford</LastName><ForeName>Blair</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Frucht</LastName><ForeName>Steven</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Ottman</LastName><ForeName>Ruth</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Marder</LastName><ForeName>Karen</ForeName><Initials>K</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>NS36630</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>NS39422</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>P01AG07232</GrantID><Acronym>AG</Acronym><Agency>NIA NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>RR00645</GrantID><Acronym>RR</Acronym><Agency>NCRR NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D013487">Research Support, U.S. Gov't, P.H.S.</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D017931">DNA Primers</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D047908">Intracellular Signaling Peptides and Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D015513">Oncogene Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C105131">PARK7 protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000375">Aging</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000502">physiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015331">Cohort Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017931">DNA Primers</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003710">Demography</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005091">Exons</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005787">Gene Frequency</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D047908">Intracellular Signaling Peptides and Proteins</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020125">Mutation, Missense</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015513">Oncogene Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000208">ethnology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017354">Point Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016133">Polymerase Chain Reaction</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011110">Polymorphism, Genetic</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2004</Year><Month>7</Month><Day>16</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2004</Year><Month>11</Month><Day>9</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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