ATP13A2 Variants in Early-Onset Parkinson's Disease Patients and Controls
Identifieur interne : 003091 ( Main/Merge ); précédent : 003090; suivant : 003092ATP13A2 Variants in Early-Onset Parkinson's Disease Patients and Controls
Auteurs : Ana Djarmati [Allemagne] ; Johann Hagenah [Allemagne] ; Kathrin Reetz [Allemagne] ; Susen Winkler [Allemagne] ; Maria Isabel Behrens [Chili] ; Heike Pawlack [Allemagne] ; Katja Lohmann [Allemagne] ; Alfredo Ramirez [Allemagne] ; Vera Tadic [Allemagne] ; Norbert Brüggemann [Allemagne] ; Daniela Berg [Allemagne] ; Hartwig R. Siebner [Allemagne] ; Anthony E. Lang [Canada] ; Peter P. Pramstaller [Italie] ; Ferdinand Binkofski [Allemagne] ; Vladimir S. Kostic [Serbie] ; Jens Volkmann [Allemagne] ; Thomas Gasser [Allemagne] ; Christine Klein [Allemagne]Source :
- Movement disorders [ 0885-3185 ] ; 2009.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
Abstract
Four genes responsible for recessively inherited forms of Parkinson's disease (PD) have been identified, including the recently discovered ATP13A2 (PARK9) gene. Our objective was to investigate the role of this gene in a large cohort of PD patients and controls. We extensively screened all 29 exons of the ATP13A2 coding region in 112 patients with early-onset PD (EOPD; <40 years) of mostly European ethnic origin and of 55 controls. We identified four carriers (3.6%) of novel single heterozygous ATP13A2 missense changes that were absent in controls. Interestingly, the carrier of one of these variants also harbored two mutations in the Parkin gene. None of the carriers had atypical features previously described in patients with two mutated ATP13A2 alleles (Kufor-Rakeb syndrome). Our data suggest that two mutated ATP13A2 alleles are not a common cause of PD. Although heterozygous variants are present in a considerable number of patients, they are-based on this relatively small sample-not significantly more frequent in patients compared to controls.
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<author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name>
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<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">ATP13A2 Variants in Early-Onset Parkinson's Disease Patients and Controls</title>
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<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Reetz, Kathrin" sort="Reetz, Kathrin" uniqKey="Reetz K" first="Kathrin" last="Reetz">Kathrin Reetz</name>
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<wicri:noRegion>University of Lübeck</wicri:noRegion>
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<wicri:noRegion>University of Lübeck</wicri:noRegion>
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<country>Allemagne</country>
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<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</wicri:noRegion>
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<country>Allemagne</country>
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<author><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name>
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<wicri:noRegion>University of Cologne</wicri:noRegion>
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<country>Allemagne</country>
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<wicri:noRegion>University of Cologne</wicri:noRegion>
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<wicri:noRegion>University of Cologne</wicri:noRegion>
<wicri:noRegion>Cologne</wicri:noRegion>
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</author>
<author><name sortKey="Tadic, Vera" sort="Tadic, Vera" uniqKey="Tadic V" first="Vera" last="Tadic">Vera Tadic</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, University of Lübeck</s1>
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<wicri:noRegion>University of Lübeck</wicri:noRegion>
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</affiliation>
</author>
<author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, University of Lübeck</s1>
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</affiliation>
</author>
<author><name sortKey="Berg, Daniela" sort="Berg, Daniela" uniqKey="Berg D" first="Daniela" last="Berg">Daniela Berg</name>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen</s1>
<s2>Tübingen</s2>
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</affiliation>
</author>
<author><name sortKey="Siebner, Hartwig R" sort="Siebner, Hartwig R" uniqKey="Siebner H" first="Hartwig R." last="Siebner">Hartwig R. Siebner</name>
<affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Neurology, Christian-Albrechts University</s1>
<s2>Kiel</s2>
<s3>DEU</s3>
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<country>Allemagne</country>
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<settlement type="city">Kiel</settlement>
</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"><inist:fA14 i1="09"><s1>Movement Disorders Centre, Toronto Western Hospital</s1>
<s2>Toronto</s2>
<s3>CAN</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Toronto</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"><inist:fA14 i1="10"><s1>Department of Neurology, Central Hospital, European Academy-Research</s1>
<s2>Bolzano-Bozen</s2>
<s3>ITA</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Bolzano-Bozen</wicri:noRegion>
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<s3>ITA</s3>
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<country>Italie</country>
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</author>
<author><name sortKey="Binkofski, Ferdinand" sort="Binkofski, Ferdinand" uniqKey="Binkofski F" first="Ferdinand" last="Binkofski">Ferdinand Binkofski</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
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<country>Allemagne</country>
<wicri:noRegion>Lübeck</wicri:noRegion>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kostic, Vladimir S" sort="Kostic, Vladimir S" uniqKey="Kostic V" first="Vladimir S." last="Kostic">Vladimir S. Kostic</name>
<affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Institute of Neurology CCS</s1>
<s2>Belgrade</s2>
<s3>SRB</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Serbie</country>
<wicri:noRegion>Institute of Neurology CCS</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Volkmann, Jens" sort="Volkmann, Jens" uniqKey="Volkmann J" first="Jens" last="Volkmann">Jens Volkmann</name>
<affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Neurology, Christian-Albrechts University</s1>
<s2>Kiel</s2>
<s3>DEU</s3>
<sZ>12 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen</s1>
<s2>Tübingen</s2>
<s3>DEU</s3>
<sZ>11 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Lübeck</wicri:noRegion>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2009">2009</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Human</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du système nerveux</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Four genes responsible for recessively inherited forms of Parkinson's disease (PD) have been identified, including the recently discovered ATP13A2 (PARK9) gene. Our objective was to investigate the role of this gene in a large cohort of PD patients and controls. We extensively screened all 29 exons of the ATP13A2 coding region in 112 patients with early-onset PD (EOPD; <40 years) of mostly European ethnic origin and of 55 controls. We identified four carriers (3.6%) of novel single heterozygous ATP13A2 missense changes that were absent in controls. Interestingly, the carrier of one of these variants also harbored two mutations in the Parkin gene. None of the carriers had atypical features previously described in patients with two mutated ATP13A2 alleles (Kufor-Rakeb syndrome). Our data suggest that two mutated ATP13A2 alleles are not a common cause of PD. Although heterozygous variants are present in a considerable number of patients, they are-based on this relatively small sample-not significantly more frequent in patients compared to controls.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Canada</li>
<li>Chili</li>
<li>Italie</li>
<li>Serbie</li>
</country>
<region><li>Bade-Wurtemberg</li>
<li>District de Tübingen</li>
<li>Schleswig-Holstein</li>
</region>
<settlement><li>Kiel</li>
<li>Tübingen</li>
</settlement>
</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="Berg, Daniela" sort="Berg, Daniela" uniqKey="Berg D" first="Daniela" last="Berg">Daniela Berg</name>
<name sortKey="Binkofski, Ferdinand" sort="Binkofski, Ferdinand" uniqKey="Binkofski F" first="Ferdinand" last="Binkofski">Ferdinand Binkofski</name>
<name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name>
<name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name>
<name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
<name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name>
<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name>
<name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name>
<name sortKey="Pawlack, Heike" sort="Pawlack, Heike" uniqKey="Pawlack H" first="Heike" last="Pawlack">Heike Pawlack</name>
<name sortKey="Pawlack, Heike" sort="Pawlack, Heike" uniqKey="Pawlack H" first="Heike" last="Pawlack">Heike Pawlack</name>
<name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name>
<name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name>
<name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name>
<name sortKey="Reetz, Kathrin" sort="Reetz, Kathrin" uniqKey="Reetz K" first="Kathrin" last="Reetz">Kathrin Reetz</name>
<name sortKey="Siebner, Hartwig R" sort="Siebner, Hartwig R" uniqKey="Siebner H" first="Hartwig R." last="Siebner">Hartwig R. Siebner</name>
<name sortKey="Tadic, Vera" sort="Tadic, Vera" uniqKey="Tadic V" first="Vera" last="Tadic">Vera Tadic</name>
<name sortKey="Volkmann, Jens" sort="Volkmann, Jens" uniqKey="Volkmann J" first="Jens" last="Volkmann">Jens Volkmann</name>
<name sortKey="Winkler, Susen" sort="Winkler, Susen" uniqKey="Winkler S" first="Susen" last="Winkler">Susen Winkler</name>
<name sortKey="Winkler, Susen" sort="Winkler, Susen" uniqKey="Winkler S" first="Susen" last="Winkler">Susen Winkler</name>
</country>
<country name="Chili"><noRegion><name sortKey="Isabel Behrens, Maria" sort="Isabel Behrens, Maria" uniqKey="Isabel Behrens M" first="Maria" last="Isabel Behrens">Maria Isabel Behrens</name>
</noRegion>
</country>
<country name="Canada"><noRegion><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</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>
<name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name>
</country>
<country name="Serbie"><noRegion><name sortKey="Kostic, Vladimir S" sort="Kostic, Vladimir S" uniqKey="Kostic V" first="Vladimir S." last="Kostic">Vladimir S. Kostic</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
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