Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease
Identifieur interne : 003096 ( Main/Corpus ); précédent : 003095; suivant : 003097Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease
Auteurs : Mathias Toft ; Ignacio F. Mata ; Owen A. Ross ; Jennifer Kachergus ; Mary M. Hulihan ; Kristoffer Haugarvoll ; Jeremy T. Stone ; Marta Blazquez ; J. Mark Gibson ; Jan O. Aasly ; Linda R. White ; Timothy Lynch ; Charles H. Adler ; Katrina Gwinn-Hardy ; Matthew J. FarrerSource :
- Movement Disorders [ 0885-3185 ] ; 2007-02-15.
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Abstract
An increasing number of nonsynonymous LRRK2 variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case–control series demonstrate that the R1514Q substitution is not associated with increased risk of disease (OR: 1.3; 95% CI: 0.6–2.8; P = 0.45). These findings highlight the importance of using family‐based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease. © 2007 Movement Disorder Society
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DOI: 10.1002/mds.21217
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Mata</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Laboratorio de Genetica Molecular, Instituto de Investigacion Nefrologica (IRSIN‐FRIAT), Hospital Universitario Central de Asturias, Oviedo, Spain</mods:affiliation></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Hulihan, Mary M" sort="Hulihan, Mary M" uniqKey="Hulihan M" first="Mary M." last="Hulihan">Mary M. Hulihan</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Haugarvoll, Kristoffer" sort="Haugarvoll, Kristoffer" uniqKey="Haugarvoll K" first="Kristoffer" last="Haugarvoll">Kristoffer Haugarvoll</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</mods:affiliation></affiliation></author><author><name sortKey="Stone, Jeremy T" sort="Stone, Jeremy T" uniqKey="Stone J" first="Jeremy T." last="Stone">Jeremy T. Stone</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Blazquez, Marta" sort="Blazquez, Marta" uniqKey="Blazquez M" first="Marta" last="Blazquez">Marta Blazquez</name><affiliation><mods:affiliation>Servicio de Neurología, Hospital Universitario Central de Asturias, Oviedo, Spain</mods:affiliation></affiliation></author><author><name sortKey="Gibson, J Mark" sort="Gibson, J Mark" uniqKey="Gibson J" first="J. Mark" last="Gibson">J. Mark Gibson</name><affiliation><mods:affiliation>Department of Neurology, Royal Victoria Hospital, Belfast, Ireland</mods:affiliation></affiliation></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name><affiliation><mods:affiliation>Department of Neurology, St. Olav's Hospital, Trondheim, Norway</mods:affiliation></affiliation></author><author><name sortKey="White, Linda R" sort="White, Linda R" uniqKey="White L" first="Linda R." last="White">Linda R. White</name><affiliation><mods:affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</mods:affiliation></affiliation></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name><affiliation><mods:affiliation>Department of Neurology, Mater Misericordiae Hospital, Dublin, and University College Dublin Conway Neuroscience Investigator, Dublin, Ireland</mods:affiliation></affiliation></author><author><name sortKey="Adler, Charles H" sort="Adler, Charles H" uniqKey="Adler C" first="Charles H." last="Adler">Charles H. Adler</name><affiliation><mods:affiliation>Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA</mods:affiliation></affiliation></author><author><name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name><affiliation><mods:affiliation>Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA</mods:affiliation></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:174C39C1C7D12C640AC8E92C152A83DEE1421B13</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21217</idno><idno type="url">https://api.istex.fr/document/174C39C1C7D12C640AC8E92C152A83DEE1421B13/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">003096</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease</title><author><name sortKey="Toft, Mathias" sort="Toft, Mathias" uniqKey="Toft M" first="Mathias" last="Toft">Mathias Toft</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</mods:affiliation></affiliation></author><author><name sortKey="Mata, Ignacio F" sort="Mata, Ignacio F" uniqKey="Mata I" first="Ignacio F." last="Mata">Ignacio F. Mata</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Laboratorio de Genetica Molecular, Instituto de Investigacion Nefrologica (IRSIN‐FRIAT), Hospital Universitario Central de Asturias, Oviedo, Spain</mods:affiliation></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Hulihan, Mary M" sort="Hulihan, Mary M" uniqKey="Hulihan M" first="Mary M." last="Hulihan">Mary M. Hulihan</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Haugarvoll, Kristoffer" sort="Haugarvoll, Kristoffer" uniqKey="Haugarvoll K" first="Kristoffer" last="Haugarvoll">Kristoffer Haugarvoll</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</mods:affiliation></affiliation></author><author><name sortKey="Stone, Jeremy T" sort="Stone, Jeremy T" uniqKey="Stone J" first="Jeremy T." last="Stone">Jeremy T. Stone</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Blazquez, Marta" sort="Blazquez, Marta" uniqKey="Blazquez M" first="Marta" last="Blazquez">Marta Blazquez</name><affiliation><mods:affiliation>Servicio de Neurología, Hospital Universitario Central de Asturias, Oviedo, Spain</mods:affiliation></affiliation></author><author><name sortKey="Gibson, J Mark" sort="Gibson, J Mark" uniqKey="Gibson J" first="J. Mark" last="Gibson">J. Mark Gibson</name><affiliation><mods:affiliation>Department of Neurology, Royal Victoria Hospital, Belfast, Ireland</mods:affiliation></affiliation></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name><affiliation><mods:affiliation>Department of Neurology, St. Olav's Hospital, Trondheim, Norway</mods:affiliation></affiliation></author><author><name sortKey="White, Linda R" sort="White, Linda R" uniqKey="White L" first="Linda R." last="White">Linda R. White</name><affiliation><mods:affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</mods:affiliation></affiliation></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name><affiliation><mods:affiliation>Department of Neurology, Mater Misericordiae Hospital, Dublin, and University College Dublin Conway Neuroscience Investigator, Dublin, Ireland</mods:affiliation></affiliation></author><author><name sortKey="Adler, Charles H" sort="Adler, Charles H" uniqKey="Adler C" first="Charles H." last="Adler">Charles H. Adler</name><affiliation><mods:affiliation>Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA</mods:affiliation></affiliation></author><author><name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name><affiliation><mods:affiliation>Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA</mods:affiliation></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></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="2007-02-15">2007-02-15</date><biblScope unit="volume">22</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="389">389</biblScope><biblScope unit="page" to="392">392</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">174C39C1C7D12C640AC8E92C152A83DEE1421B13</idno><idno type="DOI">10.1002/mds.21217</idno><idno type="ArticleID">MDS21217</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Lrrk2</term><term>R1514Q</term><term>genetic testing</term><term>pathogenicity</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">An increasing number of nonsynonymous LRRK2 variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case–control series demonstrate that the R1514Q substitution is not associated with increased risk of disease (OR: 1.3; 95% CI: 0.6–2.8; P = 0.45). These findings highlight the importance of using family‐based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease. © 2007 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Mathias Toft</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string><json:string>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</json:string></affiliations></json:item><json:item><name>Ignacio F. Mata</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string><json:string>Laboratorio de Genetica Molecular, Instituto de Investigacion Nefrologica (IRSIN‐FRIAT), Hospital Universitario Central de Asturias, Oviedo, Spain</json:string></affiliations></json:item><json:item><name>Owen A. Ross</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Jennifer Kachergus</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Mary M. Hulihan</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Kristoffer Haugarvoll</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string><json:string>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</json:string></affiliations></json:item><json:item><name>Jeremy T. Stone</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Marta Blazquez</name><affiliations><json:string>Servicio de Neurología, Hospital Universitario Central de Asturias, Oviedo, Spain</json:string></affiliations></json:item><json:item><name>J. Mark Gibson</name><affiliations><json:string>Department of Neurology, Royal Victoria Hospital, Belfast, Ireland</json:string></affiliations></json:item><json:item><name>Jan O. Aasly</name><affiliations><json:string>Department of Neurology, St. Olav's Hospital, Trondheim, Norway</json:string></affiliations></json:item><json:item><name>Linda R. White</name><affiliations><json:string>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</json:string></affiliations></json:item><json:item><name>Timothy Lynch</name><affiliations><json:string>Department of Neurology, Mater Misericordiae Hospital, Dublin, and University College Dublin Conway Neuroscience Investigator, Dublin, Ireland</json:string></affiliations></json:item><json:item><name>Charles H. Adler MD, PhD</name><affiliations><json:string>Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA</json:string></affiliations></json:item><json:item><name>Katrina Gwinn‐Hardy</name><affiliations><json:string>Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA</json:string></affiliations></json:item><json:item><name>Matthew J. Farrer</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Lrrk2</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>R1514Q</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>pathogenicity</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetic testing</value></json:item></subject><articleId><json:string>MDS21217</json:string></articleId><language><json:string>eng</json:string></language><abstract>An increasing number of nonsynonymous LRRK2 variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case–control series demonstrate that the R1514Q substitution is not associated with increased risk of disease (OR: 1.3; 95% CI: 0.6–2.8; P = 0.45). These findings highlight the importance of using family‐based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease. © 2007 Movement Disorder Society</abstract><qualityIndicators><score>3.401</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>4</keywordCount><abstractCharCount>648</abstractCharCount><pdfWordCount>2309</pdfWordCount><pdfCharCount>15264</pdfCharCount><pdfPageCount>4</pdfPageCount><abstractWordCount>91</abstractWordCount></qualityIndicators><title>Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease</title><genre><json:string>article</json:string></genre><host><volume>22</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>3</total><last>392</last><first>389</first></pages><issn><json:string>0885-3185</json:string></issn><issue>3</issue><subject><json:item><value>Brief Report</value></json:item></subject><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1531-8257</json:string></eissn><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2007</publicationDate><copyrightDate>2007</copyrightDate><doi><json:string>10.1002/mds.21217</json:string></doi><id>174C39C1C7D12C640AC8E92C152A83DEE1421B13</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/174C39C1C7D12C640AC8E92C152A83DEE1421B13/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/174C39C1C7D12C640AC8E92C152A83DEE1421B13/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/174C39C1C7D12C640AC8E92C152A83DEE1421B13/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2007</date></publicationStmt><notesStmt><note>Parkinson's Disease Foundation</note><note>National Parkinson Foundation</note><note>Mayo Clinic Jacksonville is a Morris K. Udall Parkinson's Disease Research Center of Excellence - No. NINDS P01 #NS40256;</note><note>R&D Office of the Health and Personal Social Services (Northern Ireland)</note><note>Irish Institute of Neurology and Neurosurgery Galen fellowship</note><note>Conway Neuroscience PRTLI award</note><note>Spanish Fondo de Investigaciones Sanitarias - No. PI020022;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease</title><author><persName><forename type="first">Mathias</forename><surname>Toft</surname></persName><note type="biography">The first two authors contributed equally to this study.</note><affiliation>The first two authors contributed equally to this study.</affiliation><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</affiliation></author><author><persName><forename type="first">Ignacio F.</forename><surname>Mata</surname></persName><note type="biography">The first two authors contributed equally to this study.</note><affiliation>The first two authors contributed equally to this study.</affiliation><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><affiliation>Laboratorio de Genetica Molecular, Instituto de Investigacion Nefrologica (IRSIN‐FRIAT), Hospital Universitario Central de Asturias, Oviedo, Spain</affiliation></author><author><persName><forename type="first">Owen A.</forename><surname>Ross</surname></persName><note type="correspondence"><p>Correspondence: Molecular Genetics Laboratory and Core, Morris K. Udall Parkinson's Disease Research Center of Excellence, Mayo Clinic, Department of Neuroscience, 4500 San Pablo Road, Jacksonville, FL 32224</p></note><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Jennifer</forename><surname>Kachergus</surname></persName><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Mary M.</forename><surname>Hulihan</surname></persName><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Kristoffer</forename><surname>Haugarvoll</surname></persName><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</affiliation></author><author><persName><forename type="first">Jeremy T.</forename><surname>Stone</surname></persName><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Marta</forename><surname>Blazquez</surname></persName><affiliation>Servicio de Neurología, Hospital Universitario Central de Asturias, Oviedo, Spain</affiliation></author><author><persName><forename type="first">J. Mark</forename><surname>Gibson</surname></persName><affiliation>Department of Neurology, Royal Victoria Hospital, Belfast, Ireland</affiliation></author><author><persName><forename type="first">Jan O.</forename><surname>Aasly</surname></persName><affiliation>Department of Neurology, St. Olav's Hospital, Trondheim, Norway</affiliation></author><author><persName><forename type="first">Linda R.</forename><surname>White</surname></persName><affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</affiliation></author><author><persName><forename type="first">Timothy</forename><surname>Lynch</surname></persName><affiliation>Department of Neurology, Mater Misericordiae Hospital, Dublin, and University College Dublin Conway Neuroscience Investigator, Dublin, Ireland</affiliation></author><author><persName><forename type="first">Charles H.</forename><surname>Adler</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA</affiliation></author><author><persName><forename type="first">Katrina</forename><surname>Gwinn‐Hardy</surname></persName><affiliation>Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA</affiliation></author><author><persName><forename type="first">Matthew J.</forename><surname>Farrer</surname></persName><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation></author></analytic><monogr><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="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-02-15"></date><biblScope unit="volume">22</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="389">389</biblScope><biblScope unit="page" to="392">392</biblScope></imprint></monogr><idno type="istex">174C39C1C7D12C640AC8E92C152A83DEE1421B13</idno><idno type="DOI">10.1002/mds.21217</idno><idno type="ArticleID">MDS21217</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2007</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>An increasing number of nonsynonymous LRRK2 variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case–control series demonstrate that the R1514Q substitution is not associated with increased risk of disease (OR: 1.3; 95% CI: 0.6–2.8; P = 0.45). These findings highlight the importance of using family‐based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease. © 2007 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Lrrk2</term></item><item><term>R1514Q</term></item><item><term>pathogenicity</term></item><item><term>genetic testing</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Brief Report</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2006-03-08">Received</change><change when="2006-07-31">Registration</change><change when="2007-02-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/174C39C1C7D12C640AC8E92C152A83DEE1421B13/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="30"><doi origin="wiley" registered="yes">10.1002/mds.v22:3</doi><numberingGroup><numbering type="journalVolume" number="22">22</numbering><numbering type="journalIssue">3</numbering></numberingGroup><coverDate startDate="2007-02-15">15 February 2007</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="170" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.21217</doi><idGroup><id type="unit" value="MDS21217"></id></idGroup><countGroup><count type="pageTotal" number="3"></count></countGroup><titleGroup><title type="articleCategory">Brief Report</title><title type="tocHeading1">Brief Reports</title></titleGroup><copyright ownership="thirdParty">Copyright © 2007 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2006-03-08"></event><event type="manuscriptRevised" date="2006-07-27"></event><event type="manuscriptAccepted" date="2006-07-31"></event><event type="publishedOnlineEarlyUnpaginated" date="2007-01-10"></event><event type="firstOnline" date="2007-01-10"></event><event type="publishedOnlineFinalForm" date="2007-02-28"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.2 mode:FullText source:FullText result:FullText" date="2010-03-09"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">389</numbering><numbering type="pageLast">392</numbering></numberingGroup><correspondenceTo>Molecular Genetics Laboratory and Core, Morris K. Udall Parkinson's Disease Research Center of Excellence, Mayo Clinic, Department of Neuroscience, 4500 San Pablo Road, Jacksonville, FL 32224</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS21217.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="15"></count><count type="wordTotal" number="1998"></count></countGroup><titleGroup><title type="main" xml:lang="en">Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease</title><title type="short" xml:lang="en">Pathogenicity of Lrrk2 R1514Q Substitution</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2" noteRef="#fn1"><personName><givenNames>Mathias</givenNames><familyName>Toft</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1 #af3" noteRef="#fn1"><personName><givenNames>Ignacio F.</givenNames><familyName>Mata</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Owen A.</givenNames><familyName>Ross</familyName></personName><contactDetails><email>ross.owen@mayo.edu</email></contactDetails></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Jennifer</givenNames><familyName>Kachergus</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Mary M.</givenNames><familyName>Hulihan</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Kristoffer</givenNames><familyName>Haugarvoll</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Jeremy T.</givenNames><familyName>Stone</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Marta</givenNames><familyName>Blazquez</familyName></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af5"><personName><givenNames>J. Mark</givenNames><familyName>Gibson</familyName></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Jan O.</givenNames><familyName>Aasly</familyName></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Linda R.</givenNames><familyName>White</familyName></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Timothy</givenNames><familyName>Lynch</familyName></personName></creator><creator xml:id="au13" creatorRole="author" affiliationRef="#af8"><personName><givenNames>Charles H.</givenNames><familyName>Adler</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au14" creatorRole="author" affiliationRef="#af8"><personName><givenNames>Katrina</givenNames><familyName>Gwinn‐Hardy</familyName></personName></creator><creator xml:id="au15" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Matthew J.</givenNames><familyName>Farrer</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="NO" type="organization"><unparsedAffiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="ES" type="organization"><unparsedAffiliation>Laboratorio de Genetica Molecular, Instituto de Investigacion Nefrologica (IRSIN‐FRIAT), Hospital Universitario Central de Asturias, Oviedo, Spain</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="ES" type="organization"><unparsedAffiliation>Servicio de Neurología, Hospital Universitario Central de Asturias, Oviedo, Spain</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="IE" type="organization"><unparsedAffiliation>Department of Neurology, Royal Victoria Hospital, Belfast, Ireland</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="NO" type="organization"><unparsedAffiliation>Department of Neurology, St. Olav's Hospital, Trondheim, Norway</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="IE" type="organization"><unparsedAffiliation>Department of Neurology, Mater Misericordiae Hospital, Dublin, and University College Dublin Conway Neuroscience Investigator, Dublin, Ireland</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="US" type="organization"><unparsedAffiliation>Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Lrrk2</keyword><keyword xml:id="kwd2">R1514Q</keyword><keyword xml:id="kwd3">pathogenicity</keyword><keyword xml:id="kwd4">genetic testing</keyword></keywordGroup><fundingInfo><fundingAgency>Parkinson's Disease Foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>National Parkinson Foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Mayo Clinic Jacksonville is a Morris K. Udall Parkinson's Disease Research Center of Excellence</fundingAgency><fundingNumber>NINDS P01 #NS40256</fundingNumber></fundingInfo><fundingInfo><fundingAgency>R&D Office of the Health and Personal Social Services (Northern Ireland)</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Irish Institute of Neurology and Neurosurgery Galen fellowship</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Conway Neuroscience PRTLI award</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Spanish Fondo de Investigaciones Sanitarias</fundingAgency><fundingNumber>PI020022</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>An increasing number of nonsynonymous <i>LRRK2</i> variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case–control series demonstrate that the R1514Q substitution is not associated with increased risk of disease (OR: 1.3; 95% CI: 0.6–2.8; <i>P</i> = 0.45). These findings highlight the importance of using family‐based studies and multiple population screenings when examining the association of these polymorphic <i>LRRK2</i> gene variants with Parkinson's disease. © 2007 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>The first two authors contributed equally to this study.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Pathogenicity of Lrrk2 R1514Q Substitution</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease</title></titleInfo><name type="personal"><namePart type="given">Mathias</namePart><namePart type="family">Toft</namePart><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</affiliation><description>The first two authors contributed equally to this study.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ignacio F.</namePart><namePart type="family">Mata</namePart><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><affiliation>Laboratorio de Genetica Molecular, Instituto de Investigacion Nefrologica (IRSIN‐FRIAT), Hospital Universitario Central de Asturias, Oviedo, Spain</affiliation><description>The first two authors contributed equally to this study.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Owen A.</namePart><namePart type="family">Ross</namePart><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><description>Correspondence: Molecular Genetics Laboratory and Core, Morris K. Udall Parkinson's Disease Research Center of Excellence, Mayo Clinic, Department of Neuroscience, 4500 San Pablo Road, Jacksonville, FL 32224</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jennifer</namePart><namePart type="family">Kachergus</namePart><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mary M.</namePart><namePart type="family">Hulihan</namePart><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kristoffer</namePart><namePart type="family">Haugarvoll</namePart><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jeremy T.</namePart><namePart type="family">Stone</namePart><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marta</namePart><namePart type="family">Blazquez</namePart><affiliation>Servicio de Neurología, Hospital Universitario Central de Asturias, Oviedo, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J. Mark</namePart><namePart type="family">Gibson</namePart><affiliation>Department of Neurology, Royal Victoria Hospital, Belfast, Ireland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jan O.</namePart><namePart type="family">Aasly</namePart><affiliation>Department of Neurology, St. Olav's Hospital, Trondheim, Norway</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Linda R.</namePart><namePart type="family">White</namePart><affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Timothy</namePart><namePart type="family">Lynch</namePart><affiliation>Department of Neurology, Mater Misericordiae Hospital, Dublin, and University College Dublin Conway Neuroscience Investigator, Dublin, Ireland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Charles H.</namePart><namePart type="family">Adler</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Katrina</namePart><namePart type="family">Gwinn‐Hardy</namePart><affiliation>Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Matthew J.</namePart><namePart type="family">Farrer</namePart><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</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">2007-02-15</dateIssued><dateCaptured encoding="w3cdtf">2006-03-08</dateCaptured><dateValid encoding="w3cdtf">2006-07-31</dateValid><copyrightDate encoding="w3cdtf">2007</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="figures">1</extent><extent unit="tables">1</extent><extent unit="references">15</extent><extent unit="words">1998</extent></physicalDescription><abstract lang="en">An increasing number of nonsynonymous LRRK2 variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case–control series demonstrate that the R1514Q substitution is not associated with increased risk of disease (OR: 1.3; 95% CI: 0.6–2.8; P = 0.45). These findings highlight the importance of using family‐based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease. © 2007 Movement Disorder Society</abstract><note type="funding">Parkinson's Disease Foundation</note><note type="funding">National Parkinson Foundation</note><note type="funding">Mayo Clinic Jacksonville is a Morris K. Udall Parkinson's Disease Research Center of Excellence - No. NINDS P01 #NS40256; </note><note type="funding">R&D Office of the Health and Personal Social Services (Northern Ireland)</note><note type="funding">Irish Institute of Neurology and Neurosurgery Galen fellowship</note><note type="funding">Conway Neuroscience PRTLI award</note><note type="funding">Spanish Fondo de Investigaciones Sanitarias - No. PI020022; </note><subject lang="en"><genre>Keywords</genre><topic>Lrrk2</topic><topic>R1514Q</topic><topic>pathogenicity</topic><topic>genetic testing</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></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>2007</date><detail type="volume"><caption>vol.</caption><number>22</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>389</start><end>392</end><total>3</total></extent></part></relatedItem><identifier type="istex">174C39C1C7D12C640AC8E92C152A83DEE1421B13</identifier><identifier type="DOI">10.1002/mds.21217</identifier><identifier type="ArticleID">MDS21217</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2007 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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