Leucine‐rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian
Identifieur interne : 001A23 ( Main/Corpus ); précédent : 001A22; suivant : 001A24Leucine‐rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian
Auteurs : Andrea Carmine Belin ; Marie Westerlund ; Olof Sydow ; Karin Lundströmer ; Anna H Kansson ; Hans Nissbrandt ; Lars Olson ; Dagmar GalterSource :
- Movement Disorders [ 0885-3185 ] ; 2006-10.
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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
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DOI: 10.1002/mds.21016
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Clinical Neuroscience, Neurology Section, Karolinska University Hospital, Stockholm, Sweden</mods:affiliation></affiliation></author><author><name sortKey="Lundstromer, Karin" sort="Lundstromer, Karin" uniqKey="Lundstromer K" first="Karin" last="Lundströmer">Karin Lundströmer</name><affiliation><mods:affiliation>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</mods:affiliation></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><mods:affiliation>Department of Pharmacology, Sahlgrenska Academy at Göteborg University, Göteborg, Sweden</mods:affiliation></affiliation></author><author><name sortKey="Nissbrandt, Hans" sort="Nissbrandt, Hans" uniqKey="Nissbrandt H" first="Hans" last="Nissbrandt">Hans Nissbrandt</name><affiliation><mods:affiliation>Department of Pharmacology, Sahlgrenska Academy at Göteborg University, Göteborg, Sweden</mods:affiliation></affiliation></author><author><name sortKey="Olson, Lars" sort="Olson, Lars" uniqKey="Olson L" first="Lars" last="Olson">Lars Olson</name><affiliation><mods:affiliation>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</mods:affiliation></affiliation></author><author><name sortKey="Galter, Dagmar" sort="Galter, Dagmar" uniqKey="Galter D" first="Dagmar" last="Galter">Dagmar Galter</name><affiliation><mods:affiliation>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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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><istex><corpusName>wiley</corpusName><author><json:item><name>Andrea Carmine Belin PhD</name><affiliations><json:string>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</json:string></affiliations></json:item><json:item><name>Marie Westerlund MSc</name><affiliations><json:string>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</json:string></affiliations></json:item><json:item><name>Olof Sydow MD, PhD</name><affiliations><json:string>Department of Clinical Neuroscience, Neurology Section, Karolinska University Hospital, Stockholm, Sweden</json:string></affiliations></json:item><json:item><name>Karin Lundströmer</name><affiliations><json:string>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</json:string></affiliations></json:item><json:item><name>Anna Håkansson MSc</name><affiliations><json:string>Department of Pharmacology, Sahlgrenska Academy at Göteborg University, Göteborg, Sweden</json:string></affiliations></json:item><json:item><name>Hans Nissbrandt PhD</name><affiliations><json:string>Department of Pharmacology, Sahlgrenska Academy at Göteborg University, Göteborg, Sweden</json:string></affiliations></json:item><json:item><name>Lars Olson PhD</name><affiliations><json:string>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</json:string></affiliations></json:item><json:item><name>Dagmar Galter PhD</name><affiliations><json:string>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>mutation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Sweden</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>LRRK2</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>sporadic</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>penetrance</value></json:item></subject><articleId><json:string>MDS21016</json:string></articleId><language><json:string>eng</json:string></language><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</abstract><qualityIndicators><score>4.036</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>6</keywordCount><abstractCharCount>670</abstractCharCount><pdfWordCount>2788</pdfWordCount><pdfCharCount>18264</pdfCharCount><pdfPageCount>4</pdfPageCount><abstractWordCount>104</abstractWordCount></qualityIndicators><title>Leucine‐rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian</title><genre><json:string>article</json:string></genre><host><volume>21</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>3</total><last>1734</last><first>1731</first></pages><issn><json:string>0885-3185</json:string></issn><issue>10</issue><subject><json:item><value>Brief 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Sweden</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson's disease</keyword><keyword xml:id="kwd2">mutation</keyword><keyword xml:id="kwd3">Sweden</keyword><keyword xml:id="kwd4">LRRK2</keyword><keyword xml:id="kwd5">sporadic</keyword><keyword xml:id="kwd6">penetrance</keyword></keywordGroup><fundingInfo><fundingAgency>Swedish Research Council</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Swedish Brain Foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Hållstens Forskningsstiftelse</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Björn Oscarssons Stiftelse</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Åhlén's Foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Swedish Parkinson Foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Swedish Brain Power Initiative</fundingAgency></fundingInfo><fundingInfo><fundingAgency>US Public Health Service</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Karolinska Institutet Funds</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Specific variants of Leucine‐rich repeat kinase 2 (<i>LRRK2</i>) 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 <i>LRRK2</i> G2019S mutation constitutes a significant factor for PD in the Swedish population and that it is not completely penetrant. © 2006 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Leucine‐rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>LRRK2 Mutations in Swedish Parkinson Cohort</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Leucine‐rich repeat kinase 2 (</title></titleInfo><name type="personal"><namePart type="given">Andrea</namePart><namePart type="family">Carmine Belin</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</affiliation><description>Correspondence: Department of Neuroscience, Karolinska Institutet, Retzius väg 8, B2:4, 171 77 Stockholm, Sweden</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marie</namePart><namePart type="family">Westerlund</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Olof</namePart><namePart type="family">Sydow</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Clinical Neuroscience, Neurology Section, Karolinska University Hospital, Stockholm, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Karin</namePart><namePart type="family">Lundströmer</namePart><affiliation>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anna</namePart><namePart type="family">Håkansson</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Department of Pharmacology, Sahlgrenska Academy at Göteborg University, Göteborg, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hans</namePart><namePart type="family">Nissbrandt</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Pharmacology, Sahlgrenska Academy at Göteborg University, Göteborg, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lars</namePart><namePart type="family">Olson</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Dagmar</namePart><namePart type="family">Galter</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2006-10</dateIssued><dateCaptured encoding="w3cdtf">2005-11-01</dateCaptured><dateValid encoding="w3cdtf">2005-12-05</dateValid><copyrightDate encoding="w3cdtf">2006</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="tables">1</extent><extent unit="references">15</extent><extent unit="words">1919</extent></physicalDescription><abstract 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</abstract><note type="funding">Swedish Research Council</note><note type="funding">Swedish Brain Foundation</note><note type="funding">Hållstens Forskningsstiftelse</note><note type="funding">Björn Oscarssons Stiftelse</note><note type="funding">Åhlén's Foundation</note><note type="funding">Swedish Parkinson Foundation</note><note type="funding">Swedish Brain Power Initiative</note><note type="funding">US Public Health Service</note><note type="funding">Karolinska Institutet Funds</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>mutation</topic><topic>Sweden</topic><topic>LRRK2</topic><topic>sporadic</topic><topic>penetrance</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Brief Report</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2006</date><detail type="volume"><caption>vol.</caption><number>21</number></detail><detail type="issue"><caption>no.</caption><number>10</number></detail><extent unit="pages"><start>1731</start><end>1734</end><total>3</total></extent></part></relatedItem><identifier type="istex">7C56262E3C1198317E3736E28727FBCC382ED4CC</identifier><identifier type="DOI">10.1002/mds.21016</identifier><identifier type="ArticleID">MDS21016</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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