MovDisordV3, Main, Exploration, bibRecord, 003E18

Analysis of an early‐onset Parkinson's disease cohort for DJ‐1 mutations

Identifieur interne : 003E18 ( Main/Exploration ); précédent : 003E17; suivant : 003E19

Analysis of an early‐onset Parkinson's disease cohort for DJ‐1 mutations

Auteurs : Lorraine N. Clark [États-Unis] ; Shehla Afridi [États-Unis] ; Helen Mejia-Santana [États-Unis] ; Juliette Harris [États-Unis] ; Elan D. Louis [États-Unis] ; Lucien J. Cote [États-Unis] ; Howard Andrews [États-Unis] ; Andrew Singleton [États-Unis] ; Fabienne Wavrant De-Vrieze [États-Unis] ; John Hardy [États-Unis] ; Richard Mayeux [États-Unis] ; Stanley Fahn [États-Unis] ; Cheryl Waters [États-Unis] ; Blair Ford [États-Unis] ; Steven Frucht [États-Unis] ; Ruth Ottman [États-Unis] ; Karen Marder [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2004-07.

RBID : ISTEX:8EABCAF7D49F99A3D6E8A02456C2654A532C0060

Descripteurs français

Pascal (Inist)
- Mutation, Parkinson maladie, Système nerveux pathologie.

English descriptors

KwdEn :
- Adult, Aging (physiology), Cohort Studies, DJ‐1, DNA Primers (genetics), Demography, Exons (genetics), Female, Gene Frequency (genetics), Humans, Intracellular Signaling Peptides and Proteins, Male, Middle Aged, Mutation, Mutation, Missense (genetics), Nervous system diseases, Oncogene Proteins (genetics), Parkinson Disease (epidemiology), Parkinson Disease (ethnology), Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Point Mutation (genetics), Polymerase Chain Reaction, Polymorphism, Genetic (genetics), early‐onset, multiethnic cohort, mutations.
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. © 2004 Movement Disorder Society

Url:

https://api.istex.fr/document/8EABCAF7D49F99A3D6E8A02456C2654A532C0060/fulltext/pdf

DOI: 10.1002/mds.20131

Affiliations:

Le document en format XML

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</placeName>
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<author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name>
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<wicri:regionArea>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea>
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<placeName><region type="state">État de New York</region>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aging (physiology)</term>
<term>Cohort Studies</term>
<term>DJ‐1</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</term>
<term>Mutation, Missense (genetics)</term>
<term>Nervous system diseases</term>
<term>Oncogene Proteins (genetics)</term>
<term>Parkinson Disease (epidemiology)</term>
<term>Parkinson Disease (ethnology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson disease</term>
<term>Parkinson's disease</term>
<term>Point Mutation (genetics)</term>
<term>Polymerase Chain Reaction</term>
<term>Polymorphism, Genetic (genetics)</term>
<term>early‐onset</term>
<term>multiethnic cohort</term>
<term>mutations</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>
<keywords scheme="Pascal" xml:lang="fr"><term>Mutation</term>
<term>Parkinson maladie</term>
<term>Système nerveux pathologie</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>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Maryland</li>
<li>État de New York</li>
</region>
<settlement><li>New York</li>
</settlement>
<orgName><li>Université Columbia</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="État de New York"><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N." last="Clark">Lorraine N. Clark</name>
</region>
<name sortKey="Afridi, Shehla" sort="Afridi, Shehla" uniqKey="Afridi S" first="Shehla" last="Afridi">Shehla Afridi</name>
<name sortKey="Andrews, Howard" sort="Andrews, Howard" uniqKey="Andrews H" first="Howard" last="Andrews">Howard Andrews</name>
<name sortKey="Andrews, Howard" sort="Andrews, Howard" uniqKey="Andrews H" first="Howard" last="Andrews">Howard Andrews</name>
<name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N." last="Clark">Lorraine N. Clark</name>
<name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J." last="Cote">Lucien J. Cote</name>
<name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J." last="Cote">Lucien J. Cote</name>
<name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name>
<name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name>
<name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<name sortKey="Harris, Juliette" sort="Harris, Juliette" uniqKey="Harris J" first="Juliette" last="Harris">Juliette Harris</name>
<name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D." last="Louis">Elan D. Louis</name>
<name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D." last="Louis">Elan D. Louis</name>
<name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D." last="Louis">Elan D. Louis</name>
<name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name>
<name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name>
<name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name>
<name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name>
<name sortKey="Mayeux, Richard" sort="Mayeux, Richard" uniqKey="Mayeux R" first="Richard" last="Mayeux">Richard Mayeux</name>
<name sortKey="Mayeux, Richard" sort="Mayeux, Richard" uniqKey="Mayeux R" first="Richard" last="Mayeux">Richard Mayeux</name>
<name sortKey="Mayeux, Richard" sort="Mayeux, Richard" uniqKey="Mayeux R" first="Richard" last="Mayeux">Richard Mayeux</name>
<name sortKey="Mayeux, Richard" sort="Mayeux, Richard" uniqKey="Mayeux R" first="Richard" last="Mayeux">Richard Mayeux</name>
<name sortKey="Mejia Antana, Helen" sort="Mejia Antana, Helen" uniqKey="Mejia Antana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name>
<name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name>
<name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name>
<name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name>
<name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name>
<name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
<name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name>
<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>
</country>
</tree>
</affiliations>
</record>

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Movement Disorders (revue)

Analysis of an early‐onset Parkinson's disease cohort for DJ‐1 mutations

Analysis of an early‐onset Parkinson's disease cohort for DJ‐1 mutations

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	Movement Disorders (revue)
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