Recurrent LRRK2 (Park8) mutations in early‐onset Parkinson's disease
Identifieur interne : 001209 ( Main/Exploration ); précédent : 001208; suivant : 001210Recurrent LRRK2 (Park8) mutations in early‐onset Parkinson's disease
Auteurs : Katja Hedrich [Allemagne] ; Susen Winkler [Allemagne] ; Johann Hagenah [Allemagne] ; Kemal Kabakci [Allemagne] ; Meike Kasten [Allemagne] ; Eberhard Schwinger [Allemagne] ; Jens Volkmann [Allemagne] ; Peter P. Pramstaller [Italie] ; Vladimir Kostic [Yougoslavie] ; Peter Vieregge [Allemagne] ; Christine Klein [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-09.
English descriptors
Abstract
Mutations in LRRK2 (leucine‐rich repeat kinase 2) have been associated with autosomal dominant Parkinson's disease (PD) and cluster in several 3′ exons of the gene. The majority of mutations have been detected in late‐onset cases (age at onset >50 years). We screened 5 of the 51 exons of LRRK2 that previously have been reported to harbor mutations in 98 early‐onset and 42 late‐onset PD patients. We identified two mutations (c.4321C>T, c.6055G>A) in three early‐onset patients. Screening of an additional 220 early‐onset PD patients for these mutations revealed another mutation carrier. In conclusion, LRRK2 mutations need to be considered also in early‐onset PD. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.20990
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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="volume">21</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1506">1506</biblScope><biblScope unit="page" to="1510">1510</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">969EDA6B58B12B69BF2FE6E528826FFD07F12D3F</idno><idno type="DOI">10.1002/mds.20990</idno><idno type="ArticleID">MDS20990</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>LRRK2</term><term>early‐onset Parkinson's disease</term><term>recurrent mutations</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in LRRK2 (leucine‐rich repeat kinase 2) have been associated with autosomal dominant Parkinson's disease (PD) and cluster in several 3′ exons of the gene. The majority of mutations have been detected in late‐onset cases (age at onset >50 years). We screened 5 of the 51 exons of LRRK2 that previously have been reported to harbor mutations in 98 early‐onset and 42 late‐onset PD patients. We identified two mutations (c.4321C>T, c.6055G>A) in three early‐onset patients. Screening of an additional 220 early‐onset PD patients for these mutations revealed another mutation carrier. In conclusion, LRRK2 mutations need to be considered also in early‐onset PD. © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Italie</li><li>Yougoslavie</li></country><region><li>Schleswig-Holstein</li></region><settlement><li>Kiel</li></settlement></list><tree><country name="Allemagne"><noRegion><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name></noRegion><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name><name sortKey="Kabakci, Kemal" sort="Kabakci, Kemal" uniqKey="Kabakci K" first="Kemal" last="Kabakci">Kemal Kabakci</name><name sortKey="Kabakci, Kemal" sort="Kabakci, Kemal" uniqKey="Kabakci K" first="Kemal" last="Kabakci">Kemal Kabakci</name><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Schwinger, Eberhard" sort="Schwinger, Eberhard" uniqKey="Schwinger E" first="Eberhard" last="Schwinger">Eberhard Schwinger</name><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</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="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><country name="Yougoslavie"><noRegion><name sortKey="Kostic, Vladimir" sort="Kostic, Vladimir" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir Kostic</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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