A genetic cluster of early onset Parkinson's disease in a Colombian population
Identifieur interne : 001F96 ( Main/Corpus ); précédent : 001F95; suivant : 001F97A genetic cluster of early onset Parkinson's disease in a Colombian population
Auteurs : Nicolas Pineda-Trujillo ; Maria Apergi ; Sonia Moreno ; William Arias ; Suzanne Lesage ; Alejandro Franco ; Diego Sepulveda-Falla ; David Cano ; Omar Buriticá ; David Pineda ; Carlos Santiago Uribe ; Justo Garcia De Yebenes ; Andrew J. Lees ; Alexis Brice ; Gabriel Bedoya ; Francisco Lopera ; Andres Ruiz-LinaresSource :
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics [ 1552-4841 ] ; 2006-12-05.
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Abstract
We previously identified in two families with early onset Parkinson's Disease (PD) from the isolated population of Antioquia (Colombia), a parkin Cys212Tyr substitution caused by a G736A mutation. This mutation was subsequently observed in a Spanish family, suggesting that it could have been taken to Antioquia by Spanish immigrants. Here we screened for the G736A mutation in additional Antioquian early onset PD cases and used haplotype analysis to investigate the relationship between Spanish and Antioquian G736A chromosomes. We confirmed the occurrence of an extensive founder effect in Antioquia. Thirteen individuals (10 homozygotes) from seven nuclear families were identified with the G736A mutation. Genealogical investigations demonstrated the existence of shared ancestors between six of these families four to five generations ago and no evidence of Spanish ancestry during this period. A second parkin mutation (a duplication of exon 3), was detected in the three G736A heterozygote carriers. Haplotype data exclude a recent common ancestry between the Spanish and Antioquian patients studied here and is consistent with the introduction of the G736A mutation in Antioquia during early colonial times (about 16 generations ago). © 2006 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.b.30375
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">A genetic cluster of early onset Parkinson's disease in a Colombian population</title><author><name sortKey="Pineda Rujillo, Nicolas" sort="Pineda Rujillo, Nicolas" uniqKey="Pineda Rujillo N" first="Nicolas" last="Pineda-Trujillo">Nicolas Pineda-Trujillo</name><affiliation><mods:affiliation>Galton Laboratory, University College London, London, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Apergi, Maria" sort="Apergi, Maria" uniqKey="Apergi M" first="Maria" last="Apergi">Maria Apergi</name><affiliation><mods:affiliation>Galton Laboratory, University College London, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Moreno, Sonia" sort="Moreno, Sonia" uniqKey="Moreno S" first="Sonia" last="Moreno">Sonia Moreno</name><affiliation><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Arias, William" sort="Arias, William" uniqKey="Arias W" first="William" last="Arias">William Arias</name><affiliation><mods:affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><mods:affiliation>INSERM U679, Neurologie et Therapeutique Experimentale, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Franco, Alejandro" sort="Franco, Alejandro" uniqKey="Franco A" first="Alejandro" last="Franco">Alejandro Franco</name><affiliation><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Sepulveda Alla, Diego" sort="Sepulveda Alla, Diego" uniqKey="Sepulveda Alla D" first="Diego" last="Sepulveda-Falla">Diego Sepulveda-Falla</name><affiliation><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Cano, David" sort="Cano, David" uniqKey="Cano D" first="David" last="Cano">David Cano</name><affiliation><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Buritica, Omar" sort="Buritica, Omar" uniqKey="Buritica O" first="Omar" last="Buriticá">Omar Buriticá</name><affiliation><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Pineda, David" sort="Pineda, David" uniqKey="Pineda D" first="David" last="Pineda">David Pineda</name><affiliation><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Uribe, Carlos Santiago" sort="Uribe, Carlos Santiago" uniqKey="Uribe C" first="Carlos Santiago" last="Uribe">Carlos Santiago Uribe</name><affiliation><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="De Yebenes, Justo Garcia" sort="De Yebenes, Justo Garcia" uniqKey="De Yebenes J" first="Justo Garcia" last="De Yebenes">Justo Garcia De Yebenes</name><affiliation><mods:affiliation>Fundacion Jimenez Diaz, Madrid, Spain</mods:affiliation></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew J. Lees</name><affiliation><mods:affiliation>Queen Square Brain Bank, University College London, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><mods:affiliation>INSERM U679, Neurologie et Therapeutique Experimentale, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Bedoya, Gabriel" sort="Bedoya, Gabriel" uniqKey="Bedoya G" first="Gabriel" last="Bedoya">Gabriel Bedoya</name><affiliation><mods:affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Lopera, Francisco" sort="Lopera, Francisco" uniqKey="Lopera F" first="Francisco" last="Lopera">Francisco Lopera</name><affiliation><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Ruiz Inares, Andres" sort="Ruiz Inares, Andres" uniqKey="Ruiz Inares A" first="Andres" last="Ruiz-Linares">Andres Ruiz-Linares</name><affiliation><mods:affiliation>Galton Laboratory, University College London, London, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:0C9FCE8D19391A0F4D97D715DF30E21D0598FC07</idno><date when="2006" year="2006">2006</date><idno type="doi">10.1002/ajmg.b.30375</idno><idno type="url">https://api.istex.fr/document/0C9FCE8D19391A0F4D97D715DF30E21D0598FC07/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">001F96</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">A genetic cluster of early onset Parkinson's disease in a Colombian population</title><author><name sortKey="Pineda Rujillo, Nicolas" sort="Pineda Rujillo, Nicolas" uniqKey="Pineda Rujillo N" first="Nicolas" last="Pineda-Trujillo">Nicolas Pineda-Trujillo</name><affiliation><mods:affiliation>Galton Laboratory, University College London, London, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Apergi, Maria" sort="Apergi, Maria" uniqKey="Apergi M" first="Maria" last="Apergi">Maria Apergi</name><affiliation><mods:affiliation>Galton Laboratory, University College London, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Moreno, Sonia" sort="Moreno, Sonia" uniqKey="Moreno S" first="Sonia" last="Moreno">Sonia Moreno</name><affiliation><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Arias, William" sort="Arias, William" uniqKey="Arias W" first="William" last="Arias">William Arias</name><affiliation><mods:affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><mods:affiliation>INSERM U679, Neurologie et Therapeutique Experimentale, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Franco, Alejandro" sort="Franco, Alejandro" uniqKey="Franco A" first="Alejandro" last="Franco">Alejandro Franco</name><affiliation><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Sepulveda Alla, Diego" sort="Sepulveda Alla, Diego" uniqKey="Sepulveda Alla D" first="Diego" last="Sepulveda-Falla">Diego Sepulveda-Falla</name><affiliation><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Cano, David" sort="Cano, David" uniqKey="Cano D" first="David" last="Cano">David Cano</name><affiliation><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Buritica, Omar" sort="Buritica, Omar" uniqKey="Buritica O" first="Omar" last="Buriticá">Omar Buriticá</name><affiliation><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Pineda, David" sort="Pineda, David" uniqKey="Pineda D" first="David" last="Pineda">David Pineda</name><affiliation><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Uribe, Carlos Santiago" sort="Uribe, Carlos Santiago" uniqKey="Uribe C" first="Carlos Santiago" last="Uribe">Carlos Santiago Uribe</name><affiliation><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="De Yebenes, Justo Garcia" sort="De Yebenes, Justo Garcia" uniqKey="De Yebenes J" first="Justo Garcia" last="De Yebenes">Justo Garcia De Yebenes</name><affiliation><mods:affiliation>Fundacion Jimenez Diaz, Madrid, Spain</mods:affiliation></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew J. Lees</name><affiliation><mods:affiliation>Queen Square Brain Bank, University College London, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><mods:affiliation>INSERM U679, Neurologie et Therapeutique Experimentale, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Bedoya, Gabriel" sort="Bedoya, Gabriel" uniqKey="Bedoya G" first="Gabriel" last="Bedoya">Gabriel Bedoya</name><affiliation><mods:affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Lopera, Francisco" sort="Lopera, Francisco" uniqKey="Lopera F" first="Francisco" last="Lopera">Francisco Lopera</name><affiliation><mods:affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author><author><name sortKey="Ruiz Inares, Andres" sort="Ruiz Inares, Andres" uniqKey="Ruiz Inares A" first="Andres" last="Ruiz-Linares">Andres Ruiz-Linares</name><affiliation><mods:affiliation>Galton Laboratory, University College London, London, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title><title level="j" type="abbrev">Am. J. Med. Genet.</title><idno type="ISSN">1552-4841</idno><idno type="eISSN">1552-485X</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-12-05">2006-12-05</date><biblScope unit="volume">141B</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="885">885</biblScope><biblScope unit="page" to="889">889</biblScope></imprint><idno type="ISSN">1552-4841</idno></series><idno type="istex">0C9FCE8D19391A0F4D97D715DF30E21D0598FC07</idno><idno type="DOI">10.1002/ajmg.b.30375</idno><idno type="ArticleID">AJMG30375</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4841</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Parkinson</term><term>founder effect</term><term>parkin</term><term>population isolate</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We previously identified in two families with early onset Parkinson's Disease (PD) from the isolated population of Antioquia (Colombia), a parkin Cys212Tyr substitution caused by a G736A mutation. This mutation was subsequently observed in a Spanish family, suggesting that it could have been taken to Antioquia by Spanish immigrants. Here we screened for the G736A mutation in additional Antioquian early onset PD cases and used haplotype analysis to investigate the relationship between Spanish and Antioquian G736A chromosomes. We confirmed the occurrence of an extensive founder effect in Antioquia. Thirteen individuals (10 homozygotes) from seven nuclear families were identified with the G736A mutation. Genealogical investigations demonstrated the existence of shared ancestors between six of these families four to five generations ago and no evidence of Spanish ancestry during this period. A second parkin mutation (a duplication of exon 3), was detected in the three G736A heterozygote carriers. Haplotype data exclude a recent common ancestry between the Spanish and Antioquian patients studied here and is consistent with the introduction of the G736A mutation in Antioquia during early colonial times (about 16 generations ago). © 2006 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Nicolas Pineda‐Trujillo</name><affiliations><json:string>Galton Laboratory, University College London, London, United Kingdom</json:string><json:string>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</json:string></affiliations></json:item><json:item><name>Maria Apergi</name><affiliations><json:string>Galton Laboratory, University College London, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Sonia Moreno</name><affiliations><json:string>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</json:string></affiliations></json:item><json:item><name>William Arias</name><affiliations><json:string>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</json:string></affiliations></json:item><json:item><name>Suzanne Lesage</name><affiliations><json:string>INSERM U679, Neurologie et Therapeutique Experimentale, Paris, France</json:string></affiliations></json:item><json:item><name>Alejandro Franco</name><affiliations><json:string>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</json:string></affiliations></json:item><json:item><name>Diego Sepulveda‐Falla</name><affiliations><json:string>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</json:string></affiliations></json:item><json:item><name>David Cano</name><affiliations><json:string>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</json:string></affiliations></json:item><json:item><name>Omar Buriticá</name><affiliations><json:string>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</json:string></affiliations></json:item><json:item><name>David Pineda</name><affiliations><json:string>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</json:string></affiliations></json:item><json:item><name>Carlos Santiago Uribe</name><affiliations><json:string>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</json:string></affiliations></json:item><json:item><name>Justo Garcia de Yebenes</name><affiliations><json:string>Fundacion Jimenez Diaz, Madrid, Spain</json:string></affiliations></json:item><json:item><name>Andrew J. Lees</name><affiliations><json:string>Queen Square Brain Bank, University College London, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Alexis Brice</name><affiliations><json:string>INSERM U679, Neurologie et Therapeutique Experimentale, Paris, France</json:string></affiliations></json:item><json:item><name>Gabriel Bedoya</name><affiliations><json:string>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</json:string></affiliations></json:item><json:item><name>Francisco Lopera</name><affiliations><json:string>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</json:string></affiliations></json:item><json:item><name>Andres Ruiz‐Linares</name><affiliations><json:string>Galton Laboratory, University College London, London, United Kingdom</json:string><json:string>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkinson</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>founder effect</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>population isolate</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>parkin</value></json:item></subject><articleId><json:string>AJMG30375</json:string></articleId><language><json:string>eng</json:string></language><abstract>We previously identified in two families with early onset Parkinson's Disease (PD) from the isolated population of Antioquia (Colombia), a parkin Cys212Tyr substitution caused by a G736A mutation. This mutation was subsequently observed in a Spanish family, suggesting that it could have been taken to Antioquia by Spanish immigrants. Here we screened for the G736A mutation in additional Antioquian early onset PD cases and used haplotype analysis to investigate the relationship between Spanish and Antioquian G736A chromosomes. We confirmed the occurrence of an extensive founder effect in Antioquia. Thirteen individuals (10 homozygotes) from seven nuclear families were identified with the G736A mutation. Genealogical investigations demonstrated the existence of shared ancestors between six of these families four to five generations ago and no evidence of Spanish ancestry during this period. A second parkin mutation (a duplication of exon 3), was detected in the three G736A heterozygote carriers. Haplotype data exclude a recent common ancestry between the Spanish and Antioquian patients studied here and is consistent with the introduction of the G736A mutation in Antioquia during early colonial times (about 16 generations ago). © 2006 Wiley‐Liss, Inc.</abstract><qualityIndicators><score>5.373</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>4</keywordCount><abstractCharCount>1267</abstractCharCount><pdfWordCount>3153</pdfWordCount><pdfCharCount>19526</pdfCharCount><pdfPageCount>5</pdfPageCount><abstractWordCount>185</abstractWordCount></qualityIndicators><title>A genetic cluster of early onset Parkinson's disease in a Colombian population</title><genre><json:string>article</json:string></genre><host><volume>141B</volume><publisherId><json:string>AJMG</json:string></publisherId><pages><total>5</total><last>889</last><first>885</first></pages><issn><json:string>1552-4841</json:string></issn><issue>8</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>1552-485X</json:string></eissn><title>American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title><doi><json:string>10.1002/(ISSN)1552-485X</json:string></doi></host><publicationDate>2006</publicationDate><copyrightDate>2006</copyrightDate><doi><json:string>10.1002/ajmg.b.30375</json:string></doi><id>0C9FCE8D19391A0F4D97D715DF30E21D0598FC07</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/0C9FCE8D19391A0F4D97D715DF30E21D0598FC07/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/0C9FCE8D19391A0F4D97D715DF30E21D0598FC07/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/0C9FCE8D19391A0F4D97D715DF30E21D0598FC07/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">A genetic cluster of early onset Parkinson's disease in a Colombian population</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2006</date></publicationStmt><notesStmt><note type="content">*Please cite this article as follows: Pineda‐Trujillo N, Apergi M, Moreno S, Arias W, Lesage S, Franco A, Sepúlveda D, Cano D, Buriticá O, Pineda D, Uribe CS, de Yebenes JG, Lees AJ, Brice A, Bedoya G, Lopera F, Ruiz‐Linares A. 2006. A Genetic Cluster of Early Onset Parkinson's Disease in a Colombian Population. Am J Med Genet Part B 141B:885–889.</note><note>Colciencias - No. 11150416385;</note><note>Parkinson's Disease Society of the UK - No. 4037;</note><note>Michael J. Fox Foundation for Parkinson's Disease research</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">A genetic cluster of early onset Parkinson's disease in a Colombian population</title><author><persName><forename type="first">Nicolas</forename><surname>Pineda‐Trujillo</surname></persName><affiliation>Galton Laboratory, University College London, London, United Kingdom</affiliation><affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</affiliation></author><author><persName><forename type="first">Maria</forename><surname>Apergi</surname></persName><affiliation>Galton Laboratory, University College London, London, United Kingdom</affiliation></author><author><persName><forename type="first">Sonia</forename><surname>Moreno</surname></persName><affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</affiliation></author><author><persName><forename type="first">William</forename><surname>Arias</surname></persName><affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</affiliation></author><author><persName><forename type="first">Suzanne</forename><surname>Lesage</surname></persName><affiliation>INSERM U679, Neurologie et Therapeutique Experimentale, Paris, France</affiliation></author><author><persName><forename type="first">Alejandro</forename><surname>Franco</surname></persName><affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</affiliation></author><author><persName><forename type="first">Diego</forename><surname>Sepulveda‐Falla</surname></persName><affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</affiliation></author><author><persName><forename type="first">David</forename><surname>Cano</surname></persName><affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</affiliation></author><author><persName><forename type="first">Omar</forename><surname>Buriticá</surname></persName><affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</affiliation></author><author><persName><forename type="first">David</forename><surname>Pineda</surname></persName><affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</affiliation></author><author><persName><forename type="first">Carlos Santiago</forename><surname>Uribe</surname></persName><affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</affiliation></author><author><persName><forename type="first">Justo Garcia</forename><surname>de Yebenes</surname></persName><affiliation>Fundacion Jimenez Diaz, Madrid, Spain</affiliation></author><author><persName><forename type="first">Andrew J.</forename><surname>Lees</surname></persName><affiliation>Queen Square Brain Bank, University College London, London, United Kingdom</affiliation></author><author><persName><forename type="first">Alexis</forename><surname>Brice</surname></persName><affiliation>INSERM U679, Neurologie et Therapeutique Experimentale, Paris, France</affiliation></author><author><persName><forename type="first">Gabriel</forename><surname>Bedoya</surname></persName><affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</affiliation></author><author><persName><forename type="first">Francisco</forename><surname>Lopera</surname></persName><affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</affiliation></author><author><persName><forename type="first">Andres</forename><surname>Ruiz‐Linares</surname></persName><note type="correspondence"><p>Correspondence: Department of Biology (Wolfson House), University College London, 4 Stephenson Way, London NW1 2HE, United Kingdom.</p></note><affiliation>Galton Laboratory, University College London, London, United Kingdom</affiliation><affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</affiliation></author></analytic><monogr><title level="j">American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title><title level="j" type="abbrev">Am. J. Med. Genet.</title><idno type="pISSN">1552-4841</idno><idno type="eISSN">1552-485X</idno><idno type="DOI">10.1002/(ISSN)1552-485X</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-12-05"></date><biblScope unit="volume">141B</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="885">885</biblScope><biblScope unit="page" to="889">889</biblScope></imprint></monogr><idno type="istex">0C9FCE8D19391A0F4D97D715DF30E21D0598FC07</idno><idno type="DOI">10.1002/ajmg.b.30375</idno><idno type="ArticleID">AJMG30375</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2006</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>We previously identified in two families with early onset Parkinson's Disease (PD) from the isolated population of Antioquia (Colombia), a parkin Cys212Tyr substitution caused by a G736A mutation. This mutation was subsequently observed in a Spanish family, suggesting that it could have been taken to Antioquia by Spanish immigrants. Here we screened for the G736A mutation in additional Antioquian early onset PD cases and used haplotype analysis to investigate the relationship between Spanish and Antioquian G736A chromosomes. We confirmed the occurrence of an extensive founder effect in Antioquia. Thirteen individuals (10 homozygotes) from seven nuclear families were identified with the G736A mutation. Genealogical investigations demonstrated the existence of shared ancestors between six of these families four to five generations ago and no evidence of Spanish ancestry during this period. A second parkin mutation (a duplication of exon 3), was detected in the three G736A heterozygote carriers. Haplotype data exclude a recent common ancestry between the Spanish and Antioquian patients studied here and is consistent with the introduction of the G736A mutation in Antioquia during early colonial times (about 16 generations ago). © 2006 Wiley‐Liss, Inc.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson</term></item><item><term>founder effect</term></item><item><term>population isolate</term></item><item><term>parkin</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="2005-08-26">Received</change><change when="2006-05-11">Registration</change><change when="2006-12-05">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/0C9FCE8D19391A0F4D97D715DF30E21D0598FC07/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)1552-485X</doi><issn type="print">1552-4841</issn><issn type="electronic">1552-485X</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS PART B: NEUROPSYCHIATRIC GENETICS">American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title><title type="short">Am. 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type="organization"><unparsedAffiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="CO" type="organization"><unparsedAffiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="FR" type="organization"><unparsedAffiliation>INSERM U679, Neurologie et Therapeutique Experimentale, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="ES" type="organization"><unparsedAffiliation>Fundacion Jimenez Diaz, Madrid, Spain</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="GB" type="organization"><unparsedAffiliation>Queen Square Brain Bank, University College London, London, United Kingdom</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson</keyword><keyword xml:id="kwd2">founder effect</keyword><keyword xml:id="kwd3">population isolate</keyword><keyword xml:id="kwd4">parkin</keyword></keywordGroup><fundingInfo><fundingAgency>Colciencias</fundingAgency><fundingNumber>11150416385</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Parkinson's Disease Society of the UK</fundingAgency><fundingNumber>4037</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Michael J. Fox Foundation for Parkinson's Disease research</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>We previously identified in two families with early onset Parkinson's Disease (PD) from the isolated population of Antioquia (Colombia), a parkin Cys212Tyr substitution caused by a G736A mutation. This mutation was subsequently observed in a Spanish family, suggesting that it could have been taken to Antioquia by Spanish immigrants. Here we screened for the G736A mutation in additional Antioquian early onset PD cases and used haplotype analysis to investigate the relationship between Spanish and Antioquian G736A chromosomes. We confirmed the occurrence of an extensive founder effect in Antioquia. Thirteen individuals (10 homozygotes) from seven nuclear families were identified with the G736A mutation. Genealogical investigations demonstrated the existence of shared ancestors between six of these families four to five generations ago and no evidence of Spanish ancestry during this period. A second <i>parkin</i> mutation (a duplication of exon 3), was detected in the three G736A heterozygote carriers. Haplotype data exclude a recent common ancestry between the Spanish and Antioquian patients studied here and is consistent with the introduction of the G736A mutation in Antioquia during early colonial times (about 16 generations ago). © 2006 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Please cite this article as follows: Pineda‐Trujillo N, Apergi M, Moreno S, Arias W, Lesage S, Franco A, Sepúlveda D, Cano D, Buriticá O, Pineda D, Uribe CS, de Yebenes JG, Lees AJ, Brice A, Bedoya G, Lopera F, Ruiz‐Linares A. 2006. A Genetic Cluster of Early Onset Parkinson's Disease in a Colombian Population. Am J Med Genet Part B 141B:885–889.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>A genetic cluster of early onset Parkinson's disease in a Colombian population</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Genetic Cluster of Early Onset Parkinson's Disease</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>A genetic cluster of early onset Parkinson's disease in a Colombian population</title></titleInfo><name type="personal"><namePart type="given">Nicolas</namePart><namePart type="family">Pineda‐Trujillo</namePart><affiliation>Galton Laboratory, University College London, London, United Kingdom</affiliation><affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Maria</namePart><namePart type="family">Apergi</namePart><affiliation>Galton Laboratory, University College London, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sonia</namePart><namePart type="family">Moreno</namePart><affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">William</namePart><namePart type="family">Arias</namePart><affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Suzanne</namePart><namePart type="family">Lesage</namePart><affiliation>INSERM U679, Neurologie et Therapeutique Experimentale, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alejandro</namePart><namePart type="family">Franco</namePart><affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Diego</namePart><namePart type="family">Sepulveda‐Falla</namePart><affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David</namePart><namePart type="family">Cano</namePart><affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Omar</namePart><namePart type="family">Buriticá</namePart><affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David</namePart><namePart type="family">Pineda</namePart><affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Carlos Santiago</namePart><namePart type="family">Uribe</namePart><affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Justo Garcia</namePart><namePart type="family">de Yebenes</namePart><affiliation>Fundacion Jimenez Diaz, Madrid, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andrew J.</namePart><namePart type="family">Lees</namePart><affiliation>Queen Square Brain Bank, University College London, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexis</namePart><namePart type="family">Brice</namePart><affiliation>INSERM U679, Neurologie et Therapeutique Experimentale, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gabriel</namePart><namePart type="family">Bedoya</namePart><affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Francisco</namePart><namePart type="family">Lopera</namePart><affiliation>Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andres</namePart><namePart type="family">Ruiz‐Linares</namePart><affiliation>Galton Laboratory, University College London, London, United Kingdom</affiliation><affiliation>Laboratorio de Genetica Molecular, Universidad de Antioquia, Medellin, Colombia</affiliation><description>Correspondence: Department of Biology (Wolfson House), University College London, 4 Stephenson Way, London NW1 2HE, United Kingdom.</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">2006-12-05</dateIssued><dateCaptured encoding="w3cdtf">2005-08-26</dateCaptured><dateValid encoding="w3cdtf">2006-05-11</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="figures">5</extent><extent unit="references">17</extent><extent unit="words">3395</extent></physicalDescription><abstract lang="en">We previously identified in two families with early onset Parkinson's Disease (PD) from the isolated population of Antioquia (Colombia), a parkin Cys212Tyr substitution caused by a G736A mutation. This mutation was subsequently observed in a Spanish family, suggesting that it could have been taken to Antioquia by Spanish immigrants. Here we screened for the G736A mutation in additional Antioquian early onset PD cases and used haplotype analysis to investigate the relationship between Spanish and Antioquian G736A chromosomes. We confirmed the occurrence of an extensive founder effect in Antioquia. Thirteen individuals (10 homozygotes) from seven nuclear families were identified with the G736A mutation. Genealogical investigations demonstrated the existence of shared ancestors between six of these families four to five generations ago and no evidence of Spanish ancestry during this period. A second parkin mutation (a duplication of exon 3), was detected in the three G736A heterozygote carriers. Haplotype data exclude a recent common ancestry between the Spanish and Antioquian patients studied here and is consistent with the introduction of the G736A mutation in Antioquia during early colonial times (about 16 generations ago). © 2006 Wiley‐Liss, Inc.</abstract><note type="content">*Please cite this article as follows: Pineda‐Trujillo N, Apergi M, Moreno S, Arias W, Lesage S, Franco A, Sepúlveda D, Cano D, Buriticá O, Pineda D, Uribe CS, de Yebenes JG, Lees AJ, Brice A, Bedoya G, Lopera F, Ruiz‐Linares A. 2006. A Genetic Cluster of Early Onset Parkinson's Disease in a Colombian Population. Am J Med Genet Part B 141B:885–889.</note><note type="funding">Colciencias - No. 11150416385; </note><note type="funding">Parkinson's Disease Society of the UK - No. 4037; </note><note type="funding">Michael J. Fox Foundation for Parkinson's Disease research</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson</topic><topic>founder effect</topic><topic>population isolate</topic><topic>parkin</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">1552-4841</identifier><identifier type="eISSN">1552-485X</identifier><identifier type="DOI">10.1002/(ISSN)1552-485X</identifier><identifier type="PublisherID">AJMG</identifier><part><date>2006</date><detail type="volume"><caption>vol.</caption><number>141B</number></detail><detail type="issue"><caption>no.</caption><number>8</number></detail><extent unit="pages"><start>885</start><end>889</end><total>5</total></extent></part></relatedItem><relatedItem type="preceding"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><identifier type="ISSN">0148-7299</identifier><identifier type="ISSN">1096-8628</identifier><part><date point="end">2004</date></part></relatedItem><identifier type="istex">0C9FCE8D19391A0F4D97D715DF30E21D0598FC07</identifier><identifier type="DOI">10.1002/ajmg.b.30375</identifier><identifier type="ArticleID">AJMG30375</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 Wiley‐Liss, Inc.</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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