A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease.
Identifieur interne : 001C52 ( Ncbi/Checkpoint ); précédent : 001C51; suivant : 001C53A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease.
Auteurs : Dietrich Haubenberger [Autriche] ; Silvia Bonelli ; Christoph Hotzy ; Petra Leitner ; Peter Lichtner ; Doris Samal ; Regina Katzenschlager ; Atbin Djamshidian ; Thomas Brücke ; Michaela Steffelbauer ; Christian Bancher ; Josef Grossmann ; Gerhard Ransmayr ; Tim M. Strom ; Thomas Meitinger ; Thomas Gasser ; Eduard Auff ; Alexander ZimprichSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
Descripteurs français
- Wicri :
- geographic : Autriche.
English descriptors
- KwdEn :
- 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.
DOI: 10.1002/mds.21568
PubMed: 17523199
Affiliations:
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Strom</name></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author><author><name sortKey="Auff, Eduard" sort="Auff, Eduard" uniqKey="Auff E" first="Eduard" last="Auff">Eduard Auff</name></author><author><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21568</idno><idno type="RBID">pubmed:17523199</idno><idno type="pmid">17523199</idno><idno type="wicri:Area/PubMed/Corpus">002687</idno><idno type="wicri:Area/PubMed/Curation">002687</idno><idno type="wicri:Area/PubMed/Checkpoint">002A09</idno><idno type="wicri:Area/Ncbi/Merge">001C52</idno><idno type="wicri:Area/Ncbi/Curation">001C52</idno><idno type="wicri:Area/Ncbi/Checkpoint">001C52</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease.</title><author><name sortKey="Haubenberger, Dietrich" sort="Haubenberger, Dietrich" uniqKey="Haubenberger D" first="Dietrich" last="Haubenberger">Dietrich Haubenberger</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Medical University of Vienna, and SMZ-Ost Donauspital, Vienna, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, Medical University of Vienna, and 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="Bonelli, Silvia" sort="Bonelli, Silvia" uniqKey="Bonelli S" first="Silvia" last="Bonelli">Silvia Bonelli</name></author><author><name sortKey="Hotzy, Christoph" sort="Hotzy, Christoph" uniqKey="Hotzy C" first="Christoph" last="Hotzy">Christoph Hotzy</name></author><author><name sortKey="Leitner, Petra" sort="Leitner, Petra" uniqKey="Leitner P" first="Petra" last="Leitner">Petra Leitner</name></author><author><name sortKey="Lichtner, Peter" sort="Lichtner, Peter" uniqKey="Lichtner P" first="Peter" last="Lichtner">Peter Lichtner</name></author><author><name sortKey="Samal, Doris" sort="Samal, Doris" uniqKey="Samal D" first="Doris" last="Samal">Doris Samal</name></author><author><name sortKey="Katzenschlager, Regina" sort="Katzenschlager, Regina" uniqKey="Katzenschlager R" first="Regina" last="Katzenschlager">Regina Katzenschlager</name></author><author><name sortKey="Djamshidian, Atbin" sort="Djamshidian, Atbin" uniqKey="Djamshidian A" first="Atbin" last="Djamshidian">Atbin Djamshidian</name></author><author><name sortKey="Brucke, Thomas" sort="Brucke, Thomas" uniqKey="Brucke T" first="Thomas" last="Brücke">Thomas Brücke</name></author><author><name sortKey="Steffelbauer, Michaela" sort="Steffelbauer, Michaela" uniqKey="Steffelbauer M" first="Michaela" last="Steffelbauer">Michaela Steffelbauer</name></author><author><name sortKey="Bancher, Christian" sort="Bancher, Christian" uniqKey="Bancher C" first="Christian" last="Bancher">Christian Bancher</name></author><author><name sortKey="Grossmann, Josef" sort="Grossmann, Josef" uniqKey="Grossmann J" first="Josef" last="Grossmann">Josef Grossmann</name></author><author><name sortKey="Ransmayr, Gerhard" sort="Ransmayr, Gerhard" uniqKey="Ransmayr G" first="Gerhard" last="Ransmayr">Gerhard Ransmayr</name></author><author><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M" last="Strom">Tim M. Strom</name></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author><author><name sortKey="Auff, Eduard" sort="Auff, Eduard" uniqKey="Auff E" first="Eduard" last="Auff">Eduard Auff</name></author><author><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></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>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Serine (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="Wicri" type="geographic" xml:lang="fr"><term>Autriche</term></keywords></textClass></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.</div></front></TEI><affiliations><list><country><li>Autriche</li></country><region><li>Vienne (Autriche)</li></region><settlement><li>Vienne (Autriche)</li></settlement></list><tree><noCountry><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="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="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="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="Leitner, Petra" sort="Leitner, Petra" uniqKey="Leitner P" first="Petra" last="Leitner">Petra Leitner</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="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="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M" last="Strom">Tim M. Strom</name><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name></noCountry><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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