Alpha‐synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients
Identifieur interne : 003A32 ( Main/Exploration ); précédent : 003A31; suivant : 003A33Alpha‐synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients
Auteurs : Daniela Berg [Allemagne] ; Marc Niwar [Allemagne] ; Sylvia Maass [Allemagne] ; Alexander Zimprich [Autriche] ; J. Carsten Möller [Allemagne] ; Ullrich Wuellner [Allemagne] ; Tanja Schmitz-Hübsch [Allemagne] ; Christine Klein [Allemagne] ; Eng-King Tan [Singapour] ; Ludger Schöls [Allemagne] ; Laura Marsh [États-Unis] ; Ted M. Dawson [États-Unis] ; Bernd Janetzky [Allemagne] ; Thomas Müller [Allemagne] ; Dirk Woitalla [Allemagne] ; Vladimir Kostic [Serbie] ; Peter P. Pramstaller [Italie] ; Wolfgang H. Oertel [Allemagne] ; Peter Bauer [Allemagne] ; Rejko Krueger [Allemagne] ; Thomas Gasser [Allemagne] ; Olaf Riess [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-09.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Aged, Chromatography, High Pressure Liquid, DNA Primers (genetics), Exons, Female, Genetic Testing, Human, Humans, Male, Medical screening, Mutation, Nervous system diseases, Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Point Mutation (genetics), alpha-Synuclein (genetics), alpha‐synuclein, mutational screening, silent mutation.
- MESH :
- chemical , genetics : DNA Primers, alpha-Synuclein.
- genetics : Parkinson Disease, Point Mutation.
- Aged, Chromatography, High Pressure Liquid, Exons, Female, Genetic Testing, Humans, Male.
Abstract
Data on the frequency of α‐synuclein mutations in Parkinson's disease (PD) are limited. Screening the entire coding region in 1,921 PD patients with denaturing high performance liquid chromatography and subsequent sequencing we only detected silent mutations (g.2654A>G, g.10151G>A, and g.15986A>T) and the c.209G>A substitution corresponding to the p.A53T mutation. These results demonstrate that mutations in the α‐synuclein gene are rare and suggest that other factors contribute to α‐synuclein aggregation in the majority of PD patients. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20504
Affiliations:
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Carsten" last="Möller">J. Carsten Möller</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Marburg</wicri:regionArea><wicri:noRegion>University of Marburg</wicri:noRegion><wicri:noRegion>University of Marburg</wicri:noRegion></affiliation></author><author><name sortKey="Wuellner, Ullrich" sort="Wuellner, Ullrich" uniqKey="Wuellner U" first="Ullrich" last="Wuellner">Ullrich Wuellner</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Bonn</wicri:regionArea><wicri:noRegion>University of Bonn</wicri:noRegion><wicri:noRegion>University of Bonn</wicri:noRegion></affiliation></author><author><name sortKey="Schmitz Bsch, Tanja" sort="Schmitz Bsch, Tanja" uniqKey="Schmitz Bsch T" first="Tanja" last="Schmitz-Hübsch">Tanja Schmitz-Hübsch</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Bonn</wicri:regionArea><wicri:noRegion>University of Bonn</wicri:noRegion><wicri:noRegion>University of Bonn</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</wicri:regionArea><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Tan, Eng Ing" sort="Tan, Eng Ing" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name><affiliation wicri:level="1"><country xml:lang="fr">Singapour</country><wicri:regionArea>Department of Neurology, Singapore General Hospital</wicri:regionArea><wicri:noRegion>Singapore General Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen</wicri:regionArea><wicri:noRegion>University of Tübingen</wicri:noRegion><wicri:noRegion>University of Tübingen</wicri:noRegion></affiliation></author><author><name sortKey="Marsh, Laura" sort="Marsh, Laura" uniqKey="Marsh L" first="Laura" last="Marsh">Laura Marsh</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Janetzky, Bernd" sort="Janetzky, Bernd" uniqKey="Janetzky B" first="Bernd" last="Janetzky">Bernd Janetzky</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Dresden</wicri:regionArea><wicri:noRegion>University of Dresden</wicri:noRegion><wicri:noRegion>University of Dresden</wicri:noRegion></affiliation></author><author><name sortKey="Muller, Thomas" sort="Muller, Thomas" uniqKey="Muller T" first="Thomas" last="Müller">Thomas Müller</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Bochum</wicri:regionArea><wicri:noRegion>University of Bochum</wicri:noRegion><wicri:noRegion>University of Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Woitalla, Dirk" sort="Woitalla, Dirk" uniqKey="Woitalla D" first="Dirk" last="Woitalla">Dirk Woitalla</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Bochum</wicri:regionArea><wicri:noRegion>University of Bochum</wicri:noRegion><wicri:noRegion>University of Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Kostic, Vladimir" sort="Kostic, Vladimir" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir Kostic</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="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, General Regional Hospital Bolzano and EURAC, Bolzano</wicri:regionArea><wicri:noRegion>Bolzano</wicri:noRegion></affiliation></author><author><name sortKey="Oertel, Wolfgang H" sort="Oertel, Wolfgang H" uniqKey="Oertel W" first="Wolfgang H." last="Oertel">Wolfgang H. Oertel</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Marburg</wicri:regionArea><wicri:noRegion>University of Marburg</wicri:noRegion><wicri:noRegion>University of Marburg</wicri:noRegion></affiliation></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Medical Genetics, University of Tübingen</wicri:regionArea><wicri:noRegion>University of Tübingen</wicri:noRegion><wicri:noRegion>University of Tübingen</wicri:noRegion></affiliation></author><author><name sortKey="Krueger, Rejko" sort="Krueger, Rejko" uniqKey="Krueger R" first="Rejko" last="Krueger">Rejko Krueger</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen</wicri:regionArea><wicri:noRegion>University of Tübingen</wicri:noRegion><wicri:noRegion>University of Tübingen</wicri:noRegion></affiliation></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen</wicri:regionArea><wicri:noRegion>University of Tübingen</wicri:noRegion><wicri:noRegion>University of Tübingen</wicri:noRegion></affiliation></author><author><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Medical Genetics, University of Tübingen</wicri:regionArea><wicri:noRegion>University of Tübingen</wicri:noRegion><wicri:noRegion>University of Tübingen</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="2005-09">2005-09</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1191">1191</biblScope><biblScope unit="page" to="1194">1194</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">F53B2E297DAE9A1852012E8E5775406DA8DD57BD</idno><idno type="DOI">10.1002/mds.20504</idno><idno type="ArticleID">MDS20504</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Chromatography, High Pressure Liquid</term><term>DNA Primers (genetics)</term><term>Exons</term><term>Female</term><term>Genetic Testing</term><term>Human</term><term>Humans</term><term>Male</term><term>Medical screening</term><term>Mutation</term><term>Nervous system diseases</term><term>Parkinson Disease (genetics)</term><term>Parkinson disease</term><term>Parkinson's disease</term><term>Point Mutation (genetics)</term><term>alpha-Synuclein (genetics)</term><term>alpha‐synuclein</term><term>mutational screening</term><term>silent mutation</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Primers</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term><term>Point Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Chromatography, High Pressure Liquid</term><term>Exons</term><term>Female</term><term>Genetic Testing</term><term>Humans</term><term>Male</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dépistage</term><term>Homme</term><term>Mutation</term><term>Parkinson maladie</term><term>Système nerveux pathologie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Data on the frequency of α‐synuclein mutations in Parkinson's disease (PD) are limited. Screening the entire coding region in 1,921 PD patients with denaturing high performance liquid chromatography and subsequent sequencing we only detected silent mutations (g.2654A>G, g.10151G>A, and g.15986A>T) and the c.209G>A substitution corresponding to the p.A53T mutation. These results demonstrate that mutations in the α‐synuclein gene are rare and suggest that other factors contribute to α‐synuclein aggregation in the majority of PD patients. © 2005 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Autriche</li><li>Italie</li><li>Serbie</li><li>Singapour</li><li>États-Unis</li></country><region><li>Maryland</li></region></list><tree><country name="Allemagne"><noRegion><name sortKey="Berg, Daniela" sort="Berg, Daniela" uniqKey="Berg D" first="Daniela" last="Berg">Daniela Berg</name></noRegion><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><name sortKey="Berg, Daniela" sort="Berg, Daniela" uniqKey="Berg D" first="Daniela" last="Berg">Daniela Berg</name><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><name sortKey="Janetzky, Bernd" sort="Janetzky, Bernd" uniqKey="Janetzky B" first="Bernd" last="Janetzky">Bernd Janetzky</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Krueger, Rejko" sort="Krueger, Rejko" uniqKey="Krueger R" first="Rejko" last="Krueger">Rejko Krueger</name><name sortKey="Maass, Sylvia" sort="Maass, Sylvia" uniqKey="Maass S" first="Sylvia" last="Maass">Sylvia Maass</name><name sortKey="Moller, J Carsten" sort="Moller, J Carsten" uniqKey="Moller J" first="J. Carsten" last="Möller">J. Carsten Möller</name><name sortKey="Muller, Thomas" sort="Muller, Thomas" uniqKey="Muller T" first="Thomas" last="Müller">Thomas Müller</name><name sortKey="Niwar, Marc" sort="Niwar, Marc" uniqKey="Niwar M" first="Marc" last="Niwar">Marc Niwar</name><name sortKey="Oertel, Wolfgang H" sort="Oertel, Wolfgang H" uniqKey="Oertel W" first="Wolfgang H." last="Oertel">Wolfgang H. Oertel</name><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name><name sortKey="Schmitz Bsch, Tanja" sort="Schmitz Bsch, Tanja" uniqKey="Schmitz Bsch T" first="Tanja" last="Schmitz-Hübsch">Tanja Schmitz-Hübsch</name><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name><name sortKey="Woitalla, Dirk" sort="Woitalla, Dirk" uniqKey="Woitalla D" first="Dirk" last="Woitalla">Dirk Woitalla</name><name sortKey="Wuellner, Ullrich" sort="Wuellner, Ullrich" uniqKey="Wuellner U" first="Ullrich" last="Wuellner">Ullrich Wuellner</name></country><country name="Autriche"><noRegion><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name></noRegion></country><country name="Singapour"><noRegion><name sortKey="Tan, Eng Ing" sort="Tan, Eng Ing" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name></noRegion></country><country name="États-Unis"><region name="Maryland"><name sortKey="Marsh, Laura" sort="Marsh, Laura" uniqKey="Marsh L" first="Laura" last="Marsh">Laura Marsh</name></region><name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name><name sortKey="Marsh, Laura" sort="Marsh, Laura" uniqKey="Marsh L" first="Laura" last="Marsh">Laura Marsh</name></country><country name="Serbie"><noRegion><name sortKey="Kostic, Vladimir" sort="Kostic, Vladimir" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir Kostic</name></noRegion></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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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