Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease?
Identifieur interne : 003404 ( Main/Exploration ); précédent : 003403; suivant : 003405Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease?
Auteurs : Ana Djarmati [Allemagne, Serbie] ; Katja Hedrich [Allemagne] ; Marina Svetel [Serbie] ; Thora Lohnau [Allemagne] ; Eberhard Schwinger [Allemagne] ; Stanka Romac [Serbie] ; Peter P. Pramstaller [Italie] ; Vladimir Kosti [Serbie] ; Christine Klein [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-09.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Adolescent, Adult, DNA Mutational Analysis, Female, Genetic Predisposition to Disease (genetics), Germany, Heterozygote Detection, Humans, Intracellular Signaling Peptides and Proteins (genetics), Male, Middle Aged, Mutation, Mutation, Missense, Nervous system diseases, Neurologic Examination, Oncogene Proteins (genetics), PARK6, PINK1, Parkinson Disease (diagnosis), Parkinson Disease (genetics), Parkinson disease, Pedigree, Protein Kinases (genetics), Serbia, South, South Tyrol, Ubiquitin-Protein Ligases (genetics), Yugoslavia, early‐onset Parkinson's disease, heterozygous mutations.
- MESH :
- chemical , genetics : Intracellular Signaling Peptides and Proteins, Oncogene Proteins, Protein Kinases, Ubiquitin-Protein Ligases.
- geographic : Germany, Yugoslavia.
- diagnosis : Parkinson Disease.
- genetics : Genetic Predisposition to Disease, Parkinson Disease.
- Adolescent, Adult, DNA Mutational Analysis, Female, Heterozygote Detection, Humans, Male, Middle Aged, Mutation, Missense, Neurologic Examination, Pedigree.
Abstract
PINK1 mutations cause recessively inherited early‐onset Parkinson's disease (EOPD). We comprehensively tested 75 Serbian and 17 South Tyrolean EOPD patients for mutations in this gene and found three heterozygous mutation carriers. Two of these patients shared mutations with their affected relatives, further suggesting that heterozygous PINK1 mutations may act as a susceptibility factor for EOPD.
Url:
DOI: 10.1002/mds.20977
Affiliations:
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University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Lohnau, Thora" sort="Lohnau, Thora" uniqKey="Lohnau T" first="Thora" last="Lohnau">Thora Lohnau</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Schwinger, Eberhard" sort="Schwinger, Eberhard" uniqKey="Schwinger E" first="Eberhard" last="Schwinger">Eberhard Schwinger</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Romac, Stanka" sort="Romac, Stanka" uniqKey="Romac S" first="Stanka" last="Romac">Stanka Romac</name><affiliation wicri:level="1"><country xml:lang="fr">Serbie</country><wicri:regionArea>Faculty of Biology, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, Central Hospital, Bolzano‐Bozen</wicri:regionArea><wicri:noRegion>Bolzano‐Bozen</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, EURAC‐Research, Bolzano‐Bozen</wicri:regionArea><wicri:noRegion>Bolzano‐Bozen</wicri:noRegion></affiliation></author><author><name sortKey="Kosti, Vladimir" sort="Kosti, Vladimir" uniqKey="Kosti V" first="Vladimir" last="Kosti">Vladimir Kosti</name><affiliation wicri:level="1"><country xml:lang="fr">Serbie</country><wicri:regionArea>Department of Neurology, School of Medicine, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</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="2006-09">2006-09</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1526">1526</biblScope><biblScope unit="page" to="1530">1530</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">837A655230668396A25038BBA17A6AE47C0D9348</idno><idno type="DOI">10.1002/mds.20977</idno><idno type="ArticleID">MDS20977</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Predisposition to Disease (genetics)</term><term>Germany</term><term>Heterozygote Detection</term><term>Humans</term><term>Intracellular Signaling Peptides and Proteins (genetics)</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Mutation, Missense</term><term>Nervous system diseases</term><term>Neurologic Examination</term><term>Oncogene Proteins (genetics)</term><term>PARK6</term><term>PINK1</term><term>Parkinson Disease (diagnosis)</term><term>Parkinson Disease (genetics)</term><term>Parkinson disease</term><term>Pedigree</term><term>Protein Kinases (genetics)</term><term>Serbia</term><term>South</term><term>South Tyrol</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>Yugoslavia</term><term>early‐onset Parkinson's disease</term><term>heterozygous mutations</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Intracellular Signaling Peptides and Proteins</term><term>Oncogene Proteins</term><term>Protein Kinases</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Germany</term><term>Yugoslavia</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Mutation</term><term>Parkinson maladie</term><term>Sud</term><term>Système nerveux pathologie</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Allemagne</term><term>Serbie</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>DNA Mutational Analysis</term><term>Female</term><term>Heterozygote Detection</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation, Missense</term><term>Neurologic Examination</term><term>Pedigree</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">PINK1 mutations cause recessively inherited early‐onset Parkinson's disease (EOPD). We comprehensively tested 75 Serbian and 17 South Tyrolean EOPD patients for mutations in this gene and found three heterozygous mutation carriers. Two of these patients shared mutations with their affected relatives, further suggesting that heterozygous PINK1 mutations may act as a susceptibility factor for EOPD.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Italie</li><li>Serbie</li></country></list><tree><country name="Allemagne"><noRegion><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name></noRegion><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Lohnau, Thora" sort="Lohnau, Thora" uniqKey="Lohnau T" first="Thora" last="Lohnau">Thora Lohnau</name><name sortKey="Lohnau, Thora" sort="Lohnau, Thora" uniqKey="Lohnau T" first="Thora" last="Lohnau">Thora Lohnau</name><name sortKey="Schwinger, Eberhard" sort="Schwinger, Eberhard" uniqKey="Schwinger E" first="Eberhard" last="Schwinger">Eberhard Schwinger</name></country><country name="Serbie"><noRegion><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name></noRegion><name sortKey="Kosti, Vladimir" sort="Kosti, Vladimir" uniqKey="Kosti V" first="Vladimir" last="Kosti">Vladimir Kosti</name><name sortKey="Romac, Stanka" sort="Romac, Stanka" uniqKey="Romac S" first="Stanka" last="Romac">Stanka Romac</name><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name></country><country name="Italie"><noRegion><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name></noRegion><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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