Leucine‐rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian
Identifieur interne : 001272 ( Main/Exploration ); précédent : 001271; suivant : 001273Leucine‐rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian
Auteurs : Andrea Carmine Belin [Suède] ; Marie Westerlund [Suède] ; Olof Sydow [Suède] ; Karin Lundströmer [Suède] ; Anna H Kansson [Suède] ; Hans Nissbrandt [Suède] ; Lars Olson [Suède] ; Dagmar Galter [Suède]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-10.
Descripteurs français
- Wicri :
- geographic : Suède.
English descriptors
- KwdEn :
Abstract
Specific variants of Leucine‐rich repeat kinase 2 (LRRK2) have been shown to associate with Parkinson's disease (PD). Several mutations have been found in PD populations from different parts of the world. We investigated the occurrence of three mutations (R1441G/C/H, G2019S, and I2020T) in our Swedish case–control material and identified four carriers of the G2019S mutation in 284 PD cases and 1 95‐year‐old carrier in 305 controls. The other two variants were absent in our material. We conclude that the LRRK2 G2019S mutation constitutes a significant factor for PD in the Swedish population and that it is not completely penetrant. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21016
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Leucine‐rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian</title><author><name sortKey="Carmine Belin, Andrea" sort="Carmine Belin, Andrea" uniqKey="Carmine Belin A" first="Andrea" last="Carmine Belin">Andrea Carmine Belin</name></author><author><name sortKey="Westerlund, Marie" sort="Westerlund, Marie" uniqKey="Westerlund M" first="Marie" last="Westerlund">Marie Westerlund</name></author><author><name sortKey="Sydow, Olof" sort="Sydow, Olof" uniqKey="Sydow O" first="Olof" last="Sydow">Olof Sydow</name></author><author><name sortKey="Lundstromer, Karin" sort="Lundstromer, Karin" uniqKey="Lundstromer K" first="Karin" last="Lundströmer">Karin Lundströmer</name></author><author><name sortKey="H Kansson, Anna" sort="H Kansson, Anna" uniqKey="H Kansson A" first="Anna" last="H Kansson">Anna H Kansson</name></author><author><name sortKey="Nissbrandt, Hans" sort="Nissbrandt, Hans" uniqKey="Nissbrandt H" first="Hans" last="Nissbrandt">Hans Nissbrandt</name></author><author><name sortKey="Olson, Lars" sort="Olson, Lars" uniqKey="Olson L" first="Lars" last="Olson">Lars Olson</name></author><author><name sortKey="Galter, Dagmar" sort="Galter, Dagmar" uniqKey="Galter D" first="Dagmar" last="Galter">Dagmar Galter</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:7C56262E3C1198317E3736E28727FBCC382ED4CC</idno><date when="2006" year="2006">2006</date><idno type="doi">10.1002/mds.21016</idno><idno type="url">https://api.istex.fr/document/7C56262E3C1198317E3736E28727FBCC382ED4CC/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">001A23</idno><idno type="wicri:Area/Main/Curation">001767</idno><idno type="wicri:Area/Main/Exploration">001272</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Leucine‐rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian</title><author><name sortKey="Carmine Belin, Andrea" sort="Carmine Belin, Andrea" uniqKey="Carmine Belin A" first="Andrea" last="Carmine Belin">Andrea Carmine Belin</name><affiliation wicri:level="3"><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Neuroscience, Karolinska Institutet, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Westerlund, Marie" sort="Westerlund, Marie" uniqKey="Westerlund M" first="Marie" last="Westerlund">Marie Westerlund</name><affiliation wicri:level="3"><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Neuroscience, Karolinska Institutet, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Sydow, Olof" sort="Sydow, Olof" uniqKey="Sydow O" first="Olof" last="Sydow">Olof Sydow</name><affiliation wicri:level="3"><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Clinical Neuroscience, Neurology Section, Karolinska University Hospital, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Lundstromer, Karin" sort="Lundstromer, Karin" uniqKey="Lundstromer K" first="Karin" last="Lundströmer">Karin Lundströmer</name><affiliation wicri:level="3"><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Neuroscience, Karolinska Institutet, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="H Kansson, Anna" sort="H Kansson, Anna" uniqKey="H Kansson A" first="Anna" last="H Kansson">Anna H Kansson</name><affiliation wicri:level="1"><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Pharmacology, Sahlgrenska Academy at Göteborg University, Göteborg</wicri:regionArea><wicri:noRegion>Göteborg</wicri:noRegion></affiliation></author><author><name sortKey="Nissbrandt, Hans" sort="Nissbrandt, Hans" uniqKey="Nissbrandt H" first="Hans" last="Nissbrandt">Hans Nissbrandt</name><affiliation wicri:level="1"><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Pharmacology, Sahlgrenska Academy at Göteborg University, Göteborg</wicri:regionArea><wicri:noRegion>Göteborg</wicri:noRegion></affiliation></author><author><name sortKey="Olson, Lars" sort="Olson, Lars" uniqKey="Olson L" first="Lars" last="Olson">Lars Olson</name><affiliation wicri:level="3"><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Neuroscience, Karolinska Institutet, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Galter, Dagmar" sort="Galter, Dagmar" uniqKey="Galter D" first="Dagmar" last="Galter">Dagmar Galter</name><affiliation wicri:level="3"><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Neuroscience, Karolinska Institutet, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</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="2006-10">2006-10</date><biblScope unit="volume">21</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="1731">1731</biblScope><biblScope unit="page" to="1734">1734</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">7C56262E3C1198317E3736E28727FBCC382ED4CC</idno><idno type="DOI">10.1002/mds.21016</idno><idno type="ArticleID">MDS21016</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>LRRK2</term><term>Parkinson's disease</term><term>Sweden</term><term>mutation</term><term>penetrance</term><term>sporadic</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Suède</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Specific variants of Leucine‐rich repeat kinase 2 (LRRK2) have been shown to associate with Parkinson's disease (PD). Several mutations have been found in PD populations from different parts of the world. We investigated the occurrence of three mutations (R1441G/C/H, G2019S, and I2020T) in our Swedish case–control material and identified four carriers of the G2019S mutation in 284 PD cases and 1 95‐year‐old carrier in 305 controls. The other two variants were absent in our material. We conclude that the LRRK2 G2019S mutation constitutes a significant factor for PD in the Swedish population and that it is not completely penetrant. © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Suède</li></country><region><li>Svealand</li></region><settlement><li>Stockholm</li></settlement></list><tree><country name="Suède"><region name="Svealand"><name sortKey="Carmine Belin, Andrea" sort="Carmine Belin, Andrea" uniqKey="Carmine Belin A" first="Andrea" last="Carmine Belin">Andrea Carmine Belin</name></region><name sortKey="Galter, Dagmar" sort="Galter, Dagmar" uniqKey="Galter D" first="Dagmar" last="Galter">Dagmar Galter</name><name sortKey="H Kansson, Anna" sort="H Kansson, Anna" uniqKey="H Kansson A" first="Anna" last="H Kansson">Anna H Kansson</name><name sortKey="Lundstromer, Karin" sort="Lundstromer, Karin" uniqKey="Lundstromer K" first="Karin" last="Lundströmer">Karin Lundströmer</name><name sortKey="Nissbrandt, Hans" sort="Nissbrandt, Hans" uniqKey="Nissbrandt H" first="Hans" last="Nissbrandt">Hans Nissbrandt</name><name sortKey="Olson, Lars" sort="Olson, Lars" uniqKey="Olson L" first="Lars" last="Olson">Lars Olson</name><name sortKey="Sydow, Olof" sort="Sydow, Olof" uniqKey="Sydow O" first="Olof" last="Sydow">Olof Sydow</name><name sortKey="Westerlund, Marie" sort="Westerlund, Marie" uniqKey="Westerlund M" first="Marie" last="Westerlund">Marie Westerlund</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001272 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001272 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:7C56262E3C1198317E3736E28727FBCC382ED4CC
|texte= Leucine‐rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian
}}
| This area was generated with Dilib version V0.6.23. |  |