A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease
Identifieur interne : 003053 ( Main/Exploration ); précédent : 003052; suivant : 003054A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease
Auteurs : Dietrich Haubenberger [Autriche] ; Silvia Bonelli [Autriche] ; Christoph Hotzy [Autriche] ; Petra Leitner [Allemagne] ; Peter Lichtner [Allemagne] ; Doris Samal [Autriche] ; Regina Katzenschlager [Autriche] ; Atbin Djamshidian [Autriche] ; Thomas Brücke [Autriche] ; Michaela Steffelbauer [Autriche] ; Christian Bancher [Autriche] ; Josef Grossmann [Allemagne] ; Gerhard Ransmayr [Autriche] ; Tim M. Strom [Allemagne] ; Thomas Meitinger [Allemagne] ; Thomas Gasser [Allemagne] ; Eduard Auff [Autriche] ; Alexander Zimprich [Autriche]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-08-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Aged, Asparagine (genetics), Austria (ethnology), Cohort Studies, DNA Mutational Analysis (methods), Exons, Family Health, Female, Human, Humans, LRRK2, Male, Middle Aged, Mutation, Mutation (genetics), Nervous system diseases, Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Protein-Serine-Threonine Kinases (genetics), Serine (genetics), genetics.
- MESH :
- chemical , genetics : Asparagine, Protein-Serine-Threonine Kinases, Serine.
- geographic , ethnology : Austria.
- genetics : Mutation, Parkinson Disease.
- methods : DNA Mutational Analysis.
- Aged, Cohort Studies, Exons, Family Health, Female, Humans, Male, Middle Aged.
Abstract
To investigate the frequency of mutations in the Leucine‐Rich Repeat Kinase 2 gene (LRRK2) in a sample of Austrian Parkinson's disease (PD) patients, we sequenced the complete coding region in 16 patients with autosomal dominant PD. Furthermore, we sequenced exons 31, 35, and 41 additionally in 146 patients with idiopathic PD and 30 patients with dementia with Lewy bodies. Furthermore, all 192 patients were screened for 21 putative LRRK2 mutations. While the most common mutation G2019S and the risk variant G2385R were not found in our samples, we detected a novel missense mutation (S973N) in a patient with familial, late‐onset and dopa‐responsive PD. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21568
Affiliations:
- Allemagne, Autriche
- Bade-Wurtemberg, Bavière, District de Haute-Bavière, District de Tübingen, Vienne (Autriche)
- Munich, Tübingen, Vienne (Autriche)
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Le document en format XML
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xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases, Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen</wicri:regionArea><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="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, GSF National Research Centre for Environment and Health, Neuherberg</wicri:regionArea><wicri:noRegion>Neuherberg</wicri:noRegion><wicri:noRegion>Neuherberg</wicri:noRegion></affiliation></author><author><name sortKey="Samal, Doris" sort="Samal, Doris" uniqKey="Samal D" first="Doris" last="Samal">Doris Samal</name><affiliation wicri:level="3"><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Medical University of Vienna, Vienna</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Katzenschlager, Regina" sort="Katzenschlager, Regina" uniqKey="Katzenschlager R" first="Regina" last="Katzenschlager">Regina Katzenschlager</name><affiliation wicri:level="3"><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, SMZ‐Ost Donauspital, Vienna</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Djamshidian, Atbin" sort="Djamshidian, Atbin" uniqKey="Djamshidian A" first="Atbin" last="Djamshidian">Atbin Djamshidian</name><affiliation wicri:level="3"><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, SMZ‐Ost Donauspital, Vienna</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Brucke, Thomas" sort="Brucke, Thomas" uniqKey="Brucke T" first="Thomas" last="Brücke">Thomas Brücke</name><affiliation wicri:level="3"><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Wilhelminenspital, Vienna</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Steffelbauer, Michaela" sort="Steffelbauer, Michaela" uniqKey="Steffelbauer M" first="Michaela" last="Steffelbauer">Michaela Steffelbauer</name><affiliation wicri:level="1"><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Linz General Hospital, Linz</wicri:regionArea><wicri:noRegion>Linz</wicri:noRegion></affiliation></author><author><name sortKey="Bancher, Christian" sort="Bancher, Christian" uniqKey="Bancher C" first="Christian" last="Bancher">Christian Bancher</name><affiliation wicri:level="1"><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Waldviertelklinikum, Horn</wicri:regionArea><wicri:noRegion>Horn</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Bezirkskrankenhaus, Lienz</wicri:regionArea><wicri:noRegion>Lienz</wicri:noRegion></affiliation></author><author><name sortKey="Grossmann, Josef" sort="Grossmann, Josef" uniqKey="Grossmann J" first="Josef" last="Grossmann">Josef Grossmann</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Klinikum rechts der Isar, Technical University, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Ransmayr, Gerhard" sort="Ransmayr, Gerhard" uniqKey="Ransmayr G" first="Gerhard" last="Ransmayr">Gerhard Ransmayr</name><affiliation wicri:level="1"><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Linz General Hospital, Linz</wicri:regionArea><wicri:noRegion>Linz</wicri:noRegion></affiliation></author><author><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M." last="Strom">Tim M. Strom</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, GSF National Research Centre for Environment and Health, Neuherberg</wicri:regionArea><wicri:noRegion>Neuherberg</wicri:noRegion><wicri:noRegion>Neuherberg</wicri:noRegion></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Klinikum rechts der Isar, Technical University, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, GSF National Research Centre for Environment and Health, Neuherberg</wicri:regionArea><wicri:noRegion>Neuherberg</wicri:noRegion><wicri:noRegion>Neuherberg</wicri:noRegion></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Klinikum rechts der Isar, Technical University, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</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"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases, Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen</wicri:regionArea><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="Auff, Eduard" sort="Auff, Eduard" uniqKey="Auff E" first="Eduard" last="Auff">Eduard Auff</name><affiliation wicri:level="3"><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Medical University of Vienna, Vienna</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name><affiliation wicri:level="3"><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Medical University of Vienna, Vienna</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></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="2007-08-15">2007-08-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="1640">1640</biblScope><biblScope unit="page" to="1643">1643</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">E75F03CD609CF2B0A512D8BBA2B722D7D2363B3D</idno><idno type="DOI">10.1002/mds.21568</idno><idno type="ArticleID">MDS21568</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Asparagine (genetics)</term><term>Austria (ethnology)</term><term>Cohort Studies</term><term>DNA Mutational Analysis (methods)</term><term>Exons</term><term>Family Health</term><term>Female</term><term>Human</term><term>Humans</term><term>LRRK2</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Mutation (genetics)</term><term>Nervous system diseases</term><term>Parkinson Disease (genetics)</term><term>Parkinson disease</term><term>Parkinson's disease</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Serine (genetics)</term><term>genetics</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Asparagine</term><term>Protein-Serine-Threonine Kinases</term><term>Serine</term></keywords><keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>Austria</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Cohort Studies</term><term>Exons</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Homme</term><term>Mutation</term><term>Parkinson maladie</term><term>Système nerveux pathologie</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Autriche</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">To investigate the frequency of mutations in the Leucine‐Rich Repeat Kinase 2 gene (LRRK2) in a sample of Austrian Parkinson's disease (PD) patients, we sequenced the complete coding region in 16 patients with autosomal dominant PD. Furthermore, we sequenced exons 31, 35, and 41 additionally in 146 patients with idiopathic PD and 30 patients with dementia with Lewy bodies. Furthermore, all 192 patients were screened for 21 putative LRRK2 mutations. While the most common mutation G2019S and the risk variant G2385R were not found in our samples, we detected a novel missense mutation (S973N) in a patient with familial, late‐onset and dopa‐responsive PD. © 2007 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Autriche</li></country><region><li>Bade-Wurtemberg</li><li>Bavière</li><li>District de Haute-Bavière</li><li>District de Tübingen</li><li>Vienne (Autriche)</li></region><settlement><li>Munich</li><li>Tübingen</li><li>Vienne (Autriche)</li></settlement></list><tree><country name="Autriche"><region name="Vienne (Autriche)"><name sortKey="Haubenberger, Dietrich" sort="Haubenberger, Dietrich" uniqKey="Haubenberger D" first="Dietrich" last="Haubenberger">Dietrich Haubenberger</name></region><name sortKey="Auff, Eduard" sort="Auff, Eduard" uniqKey="Auff E" first="Eduard" last="Auff">Eduard Auff</name><name sortKey="Bancher, Christian" sort="Bancher, Christian" uniqKey="Bancher C" first="Christian" last="Bancher">Christian Bancher</name><name sortKey="Bancher, Christian" sort="Bancher, Christian" uniqKey="Bancher C" first="Christian" last="Bancher">Christian Bancher</name><name sortKey="Bonelli, Silvia" sort="Bonelli, Silvia" uniqKey="Bonelli S" first="Silvia" last="Bonelli">Silvia Bonelli</name><name sortKey="Brucke, Thomas" sort="Brucke, Thomas" uniqKey="Brucke T" first="Thomas" last="Brücke">Thomas Brücke</name><name sortKey="Djamshidian, Atbin" sort="Djamshidian, Atbin" uniqKey="Djamshidian A" first="Atbin" last="Djamshidian">Atbin Djamshidian</name><name sortKey="Hotzy, Christoph" sort="Hotzy, Christoph" uniqKey="Hotzy C" first="Christoph" last="Hotzy">Christoph Hotzy</name><name sortKey="Katzenschlager, Regina" sort="Katzenschlager, Regina" uniqKey="Katzenschlager R" first="Regina" last="Katzenschlager">Regina Katzenschlager</name><name sortKey="Ransmayr, Gerhard" sort="Ransmayr, Gerhard" uniqKey="Ransmayr G" first="Gerhard" last="Ransmayr">Gerhard Ransmayr</name><name sortKey="Samal, Doris" sort="Samal, Doris" uniqKey="Samal D" first="Doris" last="Samal">Doris Samal</name><name sortKey="Steffelbauer, Michaela" sort="Steffelbauer, Michaela" uniqKey="Steffelbauer M" first="Michaela" last="Steffelbauer">Michaela Steffelbauer</name><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name></country><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Leitner, Petra" sort="Leitner, Petra" uniqKey="Leitner P" first="Petra" last="Leitner">Petra Leitner</name></region><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><name sortKey="Grossmann, Josef" sort="Grossmann, Josef" uniqKey="Grossmann J" first="Josef" last="Grossmann">Josef Grossmann</name><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M." last="Strom">Tim M. Strom</name><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M." last="Strom">Tim M. Strom</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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