Early‐onset Parkinson's disease caused by a compound heterozygous DJ‐1 mutation
Identifieur interne : 002E69 ( Main/Exploration ); précédent : 002E68; suivant : 002E70Early‐onset Parkinson's disease caused by a compound heterozygous DJ‐1 mutation
Auteurs : Stephen Hague [États-Unis] ; Ekaterina Rogaeva [Canada] ; Dena Hernandez [États-Unis] ; Cindy Gulick [États-Unis] ; Amanda Singleton ; Melissa Hanson [États-Unis] ; Janel Johnson [États-Unis] ; Roberto Weiser [États-Unis] ; Marisol Gallardo [Venezuela] ; Bernard Ravina ; Katrina Gwinn-Hardy ; Anthony Crawley ; Peter H. St. George-Hyslop [Canada] ; Anthony E. Lang [Canada] ; Peter Heutink [Pays-Bas] ; Vincenzo Bonifati [Pays-Bas, Italie] ; John Hardy [États-Unis] ; Andrew Singleton [États-Unis]Source :
- Annals of Neurology [ 0364-5134 ] ; 2003-08.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
Abstract
Mutations in DJ‐1 have been linked to an autosomal recessive form of early‐onset parkinsonism. To identify mutations causing Parkinson's disease (PD), we sequenced exons 1 through 7 of DJ‐1 in 107 early‐onset (age at diagnosis up to 50 years) PD subjects. One subject had a frameshift mutation in the first coding exon and an exon 7 splice mutation both predicted to result in a loss of functional protein. This subject was diagnosed with probable PD at age 24 years with asymmetric onset and an excellent response to levodopa therapy. Our observations suggest that sequence alterations in DJ‐1 are a rare cause of early‐onset PD.
Url:
DOI: 10.1002/ana.10663
Affiliations:
- Canada, Italie, Pays-Bas, Venezuela, États-Unis
- Hollande-Méridionale, Latium, Maryland, Ontario
- Rome, Rotterdam, Toronto
- Université de Toronto
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Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Weiser, Roberto" sort="Weiser, Roberto" uniqKey="Weiser R" first="Roberto" last="Weiser">Roberto Weiser</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Molecular Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Gallardo, Marisol" sort="Gallardo, Marisol" uniqKey="Gallardo M" first="Marisol" last="Gallardo">Marisol Gallardo</name><affiliation wicri:level="1"><country xml:lang="fr">Venezuela</country><wicri:regionArea>Hospital Universitario de Caracas, Chacao‐Caracas</wicri:regionArea><wicri:noRegion>Chacao‐Caracas</wicri:noRegion></affiliation></author><author><name sortKey="Ravina, Bernard" sort="Ravina, Bernard" uniqKey="Ravina B" 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St. George-Hyslop</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Toronto Western Hospital, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, La Sapienza University, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Molecular Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda</wicri:cityArea></affiliation><affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Annals of Neurology</title><title level="j" type="abbrev">Ann Neurol.</title><idno type="ISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2003-08">2003-08</date><biblScope unit="volume">54</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="271">271</biblScope><biblScope unit="page" to="274">274</biblScope></imprint><idno type="ISSN">0364-5134</idno></series><idno type="istex">219C30FA2CBB247357167750B7F7731043879103</idno><idno type="DOI">10.1002/ana.10663</idno><idno type="ArticleID">ANA10663</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0364-5134</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Gene</term><term>Genetics</term><term>Human</term><term>Mutation</term><term>Parkinson disease</term><term>Pathophysiology</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Gène</term><term>Génétique</term><term>Homme</term><term>Mutation</term><term>Parkinson maladie</term><term>Physiopathologie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in DJ‐1 have been linked to an autosomal recessive form of early‐onset parkinsonism. To identify mutations causing Parkinson's disease (PD), we sequenced exons 1 through 7 of DJ‐1 in 107 early‐onset (age at diagnosis up to 50 years) PD subjects. One subject had a frameshift mutation in the first coding exon and an exon 7 splice mutation both predicted to result in a loss of functional protein. This subject was diagnosed with probable PD at age 24 years with asymmetric onset and an excellent response to levodopa therapy. Our observations suggest that sequence alterations in DJ‐1 are a rare cause of early‐onset PD.</div></front></TEI><affiliations><list><country><li>Canada</li><li>Italie</li><li>Pays-Bas</li><li>Venezuela</li><li>États-Unis</li></country><region><li>Hollande-Méridionale</li><li>Latium</li><li>Maryland</li><li>Ontario</li></region><settlement><li>Rome</li><li>Rotterdam</li><li>Toronto</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><noCountry><name sortKey="Crawley, Anthony" sort="Crawley, Anthony" uniqKey="Crawley A" first="Anthony" last="Crawley">Anthony Crawley</name><name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name><name sortKey="Ravina, Bernard" sort="Ravina, Bernard" uniqKey="Ravina B" first="Bernard" last="Ravina">Bernard Ravina</name><name sortKey="Singleton, Amanda" sort="Singleton, Amanda" uniqKey="Singleton A" first="Amanda" last="Singleton">Amanda Singleton</name></noCountry><country name="États-Unis"><region name="Maryland"><name sortKey="Hague, Stephen" sort="Hague, Stephen" uniqKey="Hague S" first="Stephen" last="Hague">Stephen Hague</name></region><name sortKey="Gulick, Cindy" sort="Gulick, Cindy" uniqKey="Gulick C" first="Cindy" last="Gulick">Cindy Gulick</name><name sortKey="Hanson, Melissa" sort="Hanson, Melissa" uniqKey="Hanson M" first="Melissa" last="Hanson">Melissa Hanson</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name><name sortKey="Johnson, Janel" sort="Johnson, Janel" uniqKey="Johnson J" first="Janel" last="Johnson">Janel Johnson</name><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><name sortKey="Weiser, Roberto" sort="Weiser, Roberto" uniqKey="Weiser R" first="Roberto" last="Weiser">Roberto Weiser</name></country><country name="Canada"><region name="Ontario"><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name></region><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><name sortKey="St George Yslop, Peter H" sort="St George Yslop, Peter H" uniqKey="St George Yslop P" first="Peter H." last="St. George-Hyslop">Peter H. St. George-Hyslop</name></country><country name="Venezuela"><noRegion><name sortKey="Gallardo, Marisol" sort="Gallardo, Marisol" uniqKey="Gallardo M" first="Marisol" last="Gallardo">Marisol Gallardo</name></noRegion></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name></region><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></country><country name="Italie"><region name="Latium"><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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