Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa
Identifieur interne : 001945 ( Main/Corpus ); précédent : 001944; suivant : 001946Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa
Auteurs : Barbara Jasinska-Myga ; Jennifer Kachergus ; Carles Vilari O-Güell ; Christian Wider ; Alexandra I. Soto-Ortolaza ; Mounir Kefi ; Lefkos T. Middleton ; Lianna Ishihara-Paul ; Rachel A. Gibson ; Rim Amouri ; Samia Ben Yahmed ; Samia Ben Sassi ; Mourad Zouari ; Ghada El Euch ; Owen A. Ross ; Faycal Hentati ; Matthew J. FarrerSource :
- Movement Disorders [ 0885-3185 ] ; 2010-10-15.
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Abstract
The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S‐negative patients with sporadic PD and 365 Lrrk2 p.G2019S‐negative healthy control subjects, all from the same Arab‐Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.23283
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa</title><author><name sortKey="Jasinska Yga, Barbara" sort="Jasinska Yga, Barbara" uniqKey="Jasinska Yga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name><affiliation><mods:affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Medical University of Silesia, Katowice, Poland</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>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Vilari O Ell, Carles" sort="Vilari O Ell, Carles" uniqKey="Vilari O Ell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name><affiliation><mods:affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name><affiliation><mods:affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Soto Rtolaza, Alexandra I" sort="Soto Rtolaza, Alexandra I" uniqKey="Soto Rtolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. 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Middleton</name><affiliation><mods:affiliation>Division of Neuroscience, Imperial College London, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Ishihara Aul, Lianna" sort="Ishihara Aul, Lianna" uniqKey="Ishihara Aul L" first="Lianna" last="Ishihara-Paul">Lianna Ishihara-Paul</name><affiliation><mods:affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals Ltd., Harlow, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Gibson, Rachel A" sort="Gibson, Rachel A" uniqKey="Gibson R" first="Rachel A." last="Gibson">Rachel A. 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Ross</name><affiliation><mods:affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name><affiliation><mods:affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</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>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation></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="2010-10-15">2010-10-15</date><biblScope unit="volume">25</biblScope><biblScope unit="issue">13</biblScope><biblScope unit="page" from="2052">2052</biblScope><biblScope unit="page" to="2058">2058</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">E912089DAECC4BEB172EB5FC5D7EE26D83CBEC6E</idno><idno type="DOI">10.1002/mds.23283</idno><idno type="ArticleID">MDS23283</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Arab‐Berbers</term><term>LRRK2</term><term>Parkinson's disease</term><term>familial Parkinson's disease</term><term>genetics</term><term>sequencing</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S‐negative patients with sporadic PD and 365 Lrrk2 p.G2019S‐negative healthy control subjects, all from the same Arab‐Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population. © 2010 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Barbara Jasinska‐Myga Md, PhD</name><affiliations><json:string>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</json:string><json:string>Department of Neurology, Medical University of Silesia, Katowice, Poland</json:string></affiliations></json:item><json:item><name>Jennifer Kachergus BSc</name><affiliations><json:string>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Carles Vilariño‐Güell PhD</name><affiliations><json:string>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Christian Wider Md</name><affiliations><json:string>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Alexandra I. Soto‐Ortolaza BSc</name><affiliations><json:string>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Mounir Kefi Md</name><affiliations><json:string>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</json:string></affiliations></json:item><json:item><name>Lefkos T. Middleton Md</name><affiliations><json:string>Division of Neuroscience, Imperial College London, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Lianna Ishihara‐Paul PhD</name><affiliations><json:string>Research and Development, GlaxoSmithKline Pharmaceuticals Ltd., Harlow, United Kingdom</json:string></affiliations></json:item><json:item><name>Rachel A. Gibson PhD</name><affiliations><json:string>Research and Development, GlaxoSmithKline Pharmaceuticals Ltd., Harlow, United Kingdom</json:string></affiliations></json:item><json:item><name>Rim Amouri PhD</name><affiliations><json:string>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</json:string></affiliations></json:item><json:item><name>Samia Ben Yahmed Md</name><affiliations><json:string>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</json:string></affiliations></json:item><json:item><name>Samia Ben Sassi Md</name><affiliations><json:string>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</json:string></affiliations></json:item><json:item><name>Mourad Zouari Md</name><affiliations><json:string>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</json:string></affiliations></json:item><json:item><name>Ghada El Euch Md</name><affiliations><json:string>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</json:string></affiliations></json:item><json:item><name>Owen A. Ross PhD</name><affiliations><json:string>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Faycal Hentati Md</name><affiliations><json:string>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</json:string></affiliations></json:item><json:item><name>Matthew J. Farrer PhD</name><affiliations><json:string>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</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>familial Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>sequencing</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>Arab‐Berbers</value></json:item></subject><articleId><json:string>MDS23283</json:string></articleId><language><json:string>eng</json:string></language><abstract>The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S‐negative patients with sporadic PD and 365 Lrrk2 p.G2019S‐negative healthy control subjects, all from the same Arab‐Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population. © 2010 Movement Disorder Society</abstract><qualityIndicators><score>5.496</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>6</keywordCount><abstractCharCount>976</abstractCharCount><pdfWordCount>3744</pdfWordCount><pdfCharCount>26891</pdfCharCount><pdfPageCount>7</pdfPageCount><abstractWordCount>146</abstractWordCount></qualityIndicators><title>Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa</title><genre><json:string>article</json:string></genre><host><volume>25</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>7</total><last>2058</last><first>2052</first></pages><issn><json:string>0885-3185</json:string></issn><issue>13</issue><subject><json:item><value>Research Article</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>2010</publicationDate><copyrightDate>2010</copyrightDate><doi><json:string>10.1002/mds.23283</json:string></doi><id>E912089DAECC4BEB172EB5FC5D7EE26D83CBEC6E</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/E912089DAECC4BEB172EB5FC5D7EE26D83CBEC6E/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/E912089DAECC4BEB172EB5FC5D7EE26D83CBEC6E/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/E912089DAECC4BEB172EB5FC5D7EE26D83CBEC6E/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2010</date></publicationStmt><notesStmt><note>The Neurogenetic Core of the Mayo Clinic Morris K. Udall Center - No. NINDS P50 NS40256;</note><note>The Medical University of Silesia, Poland</note><note>The Polish Foundation for Development of Neurology, Degenerative and Cerebrovascular Diseases.</note><note>The Swiss National Science Foundation - No. PASMP3‐123268;</note><note>The Morris K. Udall Center of Excellence for Parkinson's Disease Research - No. NS40256;</note><note>The National Institutes of Health Exploratory/Developmental Research Grant Award - No. R21 NS64885;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa</title><author><persName><forename type="first">Barbara</forename><surname>Jasinska‐Myga</surname></persName><roleName type="degree">Md, PhD</roleName><affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation><affiliation>Department of Neurology, Medical University of Silesia, Katowice, Poland</affiliation></author><author><persName><forename type="first">Jennifer</forename><surname>Kachergus</surname></persName><roleName type="degree">BSc</roleName><affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Carles</forename><surname>Vilariño‐Güell</surname></persName><roleName type="degree">PhD</roleName><affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Christian</forename><surname>Wider</surname></persName><roleName type="degree">Md</roleName><affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Alexandra I.</forename><surname>Soto‐Ortolaza</surname></persName><roleName type="degree">BSc</roleName><affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Mounir</forename><surname>Kefi</surname></persName><roleName type="degree">Md</roleName><affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</affiliation></author><author><persName><forename type="first">Lefkos T.</forename><surname>Middleton</surname></persName><roleName type="degree">Md</roleName><affiliation>Division of Neuroscience, Imperial College London, London, United Kingdom</affiliation></author><author><persName><forename type="first">Lianna</forename><surname>Ishihara‐Paul</surname></persName><roleName type="degree">PhD</roleName><affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals Ltd., Harlow, United Kingdom</affiliation></author><author><persName><forename type="first">Rachel A.</forename><surname>Gibson</surname></persName><roleName type="degree">PhD</roleName><affiliation>Research and Development, GlaxoSmithKline Pharmaceuticals Ltd., Harlow, United Kingdom</affiliation></author><author><persName><forename type="first">Rim</forename><surname>Amouri</surname></persName><roleName type="degree">PhD</roleName><affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</affiliation></author><author><persName><forename type="first">Samia Ben</forename><surname>Yahmed</surname></persName><roleName type="degree">Md</roleName><affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</affiliation></author><author><persName><forename type="first">Samia Ben</forename><surname>Sassi</surname></persName><roleName type="degree">Md</roleName><affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</affiliation></author><author><persName><forename type="first">Mourad</forename><surname>Zouari</surname></persName><roleName type="degree">Md</roleName><affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</affiliation></author><author><persName><forename type="first">Ghada El</forename><surname>Euch</surname></persName><roleName type="degree">Md</roleName><affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</affiliation></author><author><persName><forename type="first">Owen A.</forename><surname>Ross</surname></persName><roleName type="degree">PhD</roleName><affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Faycal</forename><surname>Hentati</surname></persName><roleName type="degree">Md</roleName><affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</affiliation></author><author><persName><forename type="first">Matthew J.</forename><surname>Farrer</surname></persName><roleName type="degree">PhD</roleName><note type="correspondence"><p>Correspondence: Department of Neuroscience, Molecular Genetics Laboratory and Core, Morris K. Udall Parkinson's Disease Research Center of Excellence, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224</p></note><affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S‐negative patients with sporadic PD and 365 Lrrk2 p.G2019S‐negative healthy control subjects, all from the same Arab‐Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population. © 2010 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson's disease</term></item><item><term>familial Parkinson's disease</term></item><item><term>genetics</term></item><item><term>sequencing</term></item><item><term>LRRK2</term></item><item><term>Arab‐Berbers</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2009-09-04">Received</change><change when="2010-05-10">Registration</change><change when="2010-10-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/E912089DAECC4BEB172EB5FC5D7EE26D83CBEC6E/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="short">Mov. 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Udall Parkinson's Disease Research Center of Excellence, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS23283.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="3"></count><count type="referenceTotal" number="26"></count><count type="wordTotal" number="6307"></count></countGroup><titleGroup><title type="main" xml:lang="en">Comprehensive sequencing of the <i>LRRK2</i> gene in patients with familial Parkinson's disease from North Africa</title><title type="short" xml:lang="en">Sequencing Of the LRRK2 Gene In Parkinson's Disease</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Barbara</givenNames><familyName>Jasinska‐Myga</familyName><degrees>Md, PhD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" 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Ben</givenNames><familyName>Sassi</familyName><degrees>Md</degrees></personName></creator><creator xml:id="au13" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Mourad</givenNames><familyName>Zouari</familyName><degrees>Md</degrees></personName></creator><creator xml:id="au14" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Ghada El</givenNames><familyName>Euch</familyName><degrees>Md</degrees></personName></creator><creator xml:id="au15" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Owen A.</givenNames><familyName>Ross</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au16" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Faycal</givenNames><familyName>Hentati</familyName><degrees>Md</degrees></personName></creator><creator xml:id="au17" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Matthew 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Udall Center</fundingAgency><fundingNumber>NINDS P50 NS40256</fundingNumber></fundingInfo><fundingInfo><fundingAgency>The Medical University of Silesia, Poland</fundingAgency></fundingInfo><fundingInfo><fundingAgency>The Polish Foundation for Development of Neurology, Degenerative and Cerebrovascular Diseases.</fundingAgency></fundingInfo><fundingInfo><fundingAgency>The Swiss National Science Foundation</fundingAgency><fundingNumber>PASMP3‐123268</fundingNumber></fundingInfo><fundingInfo><fundingAgency>The Morris K. 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We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the <i>LRRK2</i> gene in the Tunisian PD population. © 2010 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1" numbered="no"><p>Potential conflict of interest: Nothing to report.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Sequencing Of the LRRK2 Gene In Parkinson's Disease</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Comprehensive sequencing of the</title></titleInfo><name type="personal"><namePart type="given">Barbara</namePart><namePart type="family">Jasinska‐Myga</namePart><namePart type="termsOfAddress">Md, PhD</namePart><affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo 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type="termsOfAddress">Md</namePart><affiliation>Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Matthew J.</namePart><namePart type="family">Farrer</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</affiliation><description>Correspondence: Department of Neuroscience, Molecular Genetics Laboratory and Core, Morris K. Udall Parkinson's Disease Research Center of Excellence, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224</description><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">2010-10-15</dateIssued><dateCaptured encoding="w3cdtf">2009-09-04</dateCaptured><dateValid encoding="w3cdtf">2010-05-10</dateValid><copyrightDate encoding="w3cdtf">2010</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">3</extent><extent unit="references">26</extent><extent unit="words">6307</extent></physicalDescription><abstract lang="en">The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S‐negative patients with sporadic PD and 365 Lrrk2 p.G2019S‐negative healthy control subjects, all from the same Arab‐Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population. © 2010 Movement Disorder Society</abstract><note type="funding">The Neurogenetic Core of the Mayo Clinic Morris K. Udall Center - No. NINDS P50 NS40256; </note><note type="funding">The Medical University of Silesia, Poland</note><note type="funding">The Polish Foundation for Development of Neurology, Degenerative and Cerebrovascular Diseases.</note><note type="funding">The Swiss National Science Foundation - No. PASMP3‐123268; </note><note type="funding">The Morris K. Udall Center of Excellence for Parkinson's Disease Research - No. NS40256; </note><note type="funding">The National Institutes of Health Exploratory/Developmental Research Grant Award - No. R21 NS64885; </note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>familial Parkinson's disease</topic><topic>genetics</topic><topic>sequencing</topic><topic>LRRK2</topic><topic>Arab‐Berbers</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>Research Article</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>2010</date><detail type="volume"><caption>vol.</caption><number>25</number></detail><detail type="issue"><caption>no.</caption><number>13</number></detail><extent unit="pages"><start>2052</start><end>2058</end><total>7</total></extent></part></relatedItem><identifier type="istex">E912089DAECC4BEB172EB5FC5D7EE26D83CBEC6E</identifier><identifier type="DOI">10.1002/mds.23283</identifier><identifier type="ArticleID">MDS23283</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 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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