Lrrk2 mutations in South America: A study of Chilean Parkinson's disease
Pathogenic substitutions in the leucine-rich repeat kinase 2 protein (Lrrk2), R1441G and G2019S, are a prevalent cause of autosomal dominant and sporadic Parkinson's disease in the Northern Spanish population. In this study we examined the frequency of these two substitutions in 166 Parkinson&#...
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| Veröffentlicht in: | Neuroscience letters 2007-07, Vol.422 (3), p.193-197 |
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| creator | Perez-Pastene, Carolina Cobb, Stephanie A. Díaz-Grez, Fernando Hulihan, Mary M. Miranda, Marcelo Venegas, Pablo Godoy, Osvaldo Trujillo Kachergus, Jennifer M. Ross, Owen A. Layson, Luis Farrer, Matthew J. Segura-Aguilar, Juan |
| description | Pathogenic substitutions in the leucine-rich repeat kinase 2 protein (Lrrk2), R1441G and G2019S, are a prevalent cause of autosomal dominant and sporadic Parkinson's disease in the Northern Spanish population. In this study we examined the frequency of these two substitutions in 166 Parkinson's disease patients and 153 controls from Chile, a population with Spanish/European-Amerindian admixture. Lrrk2 R1441G was not observed, however Lrrk2 G2019S was detected in one familial and four sporadic Parkinson's disease patients. These findings suggest Lrrk2 G2019S may play an important role in Parkinson's disease on the South American Continent and further studies are now warranted. |
| doi_str_mv | 10.1016/j.neulet.2007.06.021 |
| format | Article |
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In this study we examined the frequency of these two substitutions in 166 Parkinson's disease patients and 153 controls from Chile, a population with Spanish/European-Amerindian admixture. Lrrk2 R1441G was not observed, however Lrrk2 G2019S was detected in one familial and four sporadic Parkinson's disease patients. These findings suggest Lrrk2 G2019S may play an important role in Parkinson's disease on the South American Continent and further studies are now warranted.</description><identifier>ISSN: 0304-3940</identifier><identifier>EISSN: 1872-7972</identifier><identifier>DOI: 10.1016/j.neulet.2007.06.021</identifier><identifier>PMID: 17614198</identifier><identifier>CODEN: NELED5</identifier><language>eng</language><publisher>Shannon: Elsevier Ireland Ltd</publisher><subject>Age of Onset ; Amerindian ; Biological and medical sciences ; Chile - epidemiology ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DNA Mutational Analysis ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Frequency ; Genetic Predisposition to Disease ; Haplotypes ; Humans ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ; LRRK2 ; Male ; Medical sciences ; Middle Aged ; Mutation ; Neurology ; Parkinson Disease - genetics ; Parkinson's disease ; Polymerase Chain Reaction ; Protein-Serine-Threonine Kinases - genetics ; Vertebrates: nervous system and sense organs</subject><ispartof>Neuroscience letters, 2007-07, Vol.422 (3), p.193-197</ispartof><rights>2007 Elsevier Ireland Ltd</rights><rights>2007 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c491t-1a2b3f8ce1c66b0f0c360190444ece68bb76003d941f7d25da5831dbbf07cfb93</citedby><cites>FETCH-LOGICAL-c491t-1a2b3f8ce1c66b0f0c360190444ece68bb76003d941f7d25da5831dbbf07cfb93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0304394007007136$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,776,780,881,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18953823$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17614198$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Perez-Pastene, Carolina</creatorcontrib><creatorcontrib>Cobb, Stephanie A.</creatorcontrib><creatorcontrib>Díaz-Grez, Fernando</creatorcontrib><creatorcontrib>Hulihan, Mary M.</creatorcontrib><creatorcontrib>Miranda, Marcelo</creatorcontrib><creatorcontrib>Venegas, Pablo</creatorcontrib><creatorcontrib>Godoy, Osvaldo Trujillo</creatorcontrib><creatorcontrib>Kachergus, Jennifer M.</creatorcontrib><creatorcontrib>Ross, Owen A.</creatorcontrib><creatorcontrib>Layson, Luis</creatorcontrib><creatorcontrib>Farrer, Matthew J.</creatorcontrib><creatorcontrib>Segura-Aguilar, Juan</creatorcontrib><title>Lrrk2 mutations in South America: A study of Chilean Parkinson's disease</title><title>Neuroscience letters</title><addtitle>Neurosci Lett</addtitle><description>Pathogenic substitutions in the leucine-rich repeat kinase 2 protein (Lrrk2), R1441G and G2019S, are a prevalent cause of autosomal dominant and sporadic Parkinson's disease in the Northern Spanish population. In this study we examined the frequency of these two substitutions in 166 Parkinson's disease patients and 153 controls from Chile, a population with Spanish/European-Amerindian admixture. Lrrk2 R1441G was not observed, however Lrrk2 G2019S was detected in one familial and four sporadic Parkinson's disease patients. These findings suggest Lrrk2 G2019S may play an important role in Parkinson's disease on the South American Continent and further studies are now warranted.</description><subject>Age of Onset</subject><subject>Amerindian</subject><subject>Biological and medical sciences</subject><subject>Chile - epidemiology</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Frequency</subject><subject>Genetic Predisposition to Disease</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</subject><subject>LRRK2</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Parkinson Disease - genetics</subject><subject>Parkinson's disease</subject><subject>Polymerase Chain Reaction</subject><subject>Protein-Serine-Threonine Kinases - genetics</subject><subject>Vertebrates: nervous system and sense organs</subject><issn>0304-3940</issn><issn>1872-7972</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kUFv1DAQhS0EokvhHyDkC3BKOo4dO-FQabUCirQSlYCz5TgT1tvELrZTqf-eVLti6aWnOcw3b-bNI-Qtg5IBkxf70uM8Yi4rAFWCLKFiz8iKNaoqVKuq52QFHETBWwFn5FVKewCoWS1ekjOmJBOsbVbkahvjTUWnOZvsgk_UefojzHlH1xNGZ80nuqYpz_09DQPd7NyIxtNrE2-cT8F_TLR3CU3C1-TFYMaEb471nPz68vnn5qrYfv_6bbPeFla0LBfMVB0fGovMStnBAJZLYC0IIdCibLpOSQDet4INqq_q3tQNZ33XDaDs0LX8nFwedG_nbsLeos_RjPo2usnEex2M04873u3073CnF7tSgVoEPhwFYvgzY8p6csniOBqPYU56YQSrOF9AcQBtDClFHP4tYaAfItB7fYhAP0SgQeolgmXs3f8HnoaOP1-A90fAJGvGIRpvXTpxTVvzpuInp7i8885h1Mk69BZ7F9Fm3Qf39CV_Acvep0M</recordid><startdate>20070718</startdate><enddate>20070718</enddate><creator>Perez-Pastene, Carolina</creator><creator>Cobb, Stephanie A.</creator><creator>Díaz-Grez, Fernando</creator><creator>Hulihan, Mary M.</creator><creator>Miranda, Marcelo</creator><creator>Venegas, Pablo</creator><creator>Godoy, Osvaldo Trujillo</creator><creator>Kachergus, Jennifer M.</creator><creator>Ross, Owen A.</creator><creator>Layson, Luis</creator><creator>Farrer, Matthew J.</creator><creator>Segura-Aguilar, Juan</creator><general>Elsevier Ireland Ltd</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20070718</creationdate><title>Lrrk2 mutations in South America: A study of Chilean Parkinson's disease</title><author>Perez-Pastene, Carolina ; Cobb, Stephanie A. ; Díaz-Grez, Fernando ; Hulihan, Mary M. ; Miranda, Marcelo ; Venegas, Pablo ; Godoy, Osvaldo Trujillo ; Kachergus, Jennifer M. ; Ross, Owen A. ; Layson, Luis ; Farrer, Matthew J. ; Segura-Aguilar, Juan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c491t-1a2b3f8ce1c66b0f0c360190444ece68bb76003d941f7d25da5831dbbf07cfb93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Age of Onset</topic><topic>Amerindian</topic><topic>Biological and medical sciences</topic><topic>Chile - epidemiology</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Frequency</topic><topic>Genetic Predisposition to Disease</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</topic><topic>LRRK2</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Neurology</topic><topic>Parkinson Disease - genetics</topic><topic>Parkinson's disease</topic><topic>Polymerase Chain Reaction</topic><topic>Protein-Serine-Threonine Kinases - genetics</topic><topic>Vertebrates: nervous system and sense organs</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Perez-Pastene, Carolina</creatorcontrib><creatorcontrib>Cobb, Stephanie A.</creatorcontrib><creatorcontrib>Díaz-Grez, Fernando</creatorcontrib><creatorcontrib>Hulihan, Mary M.</creatorcontrib><creatorcontrib>Miranda, Marcelo</creatorcontrib><creatorcontrib>Venegas, Pablo</creatorcontrib><creatorcontrib>Godoy, Osvaldo Trujillo</creatorcontrib><creatorcontrib>Kachergus, Jennifer M.</creatorcontrib><creatorcontrib>Ross, Owen A.</creatorcontrib><creatorcontrib>Layson, Luis</creatorcontrib><creatorcontrib>Farrer, Matthew J.</creatorcontrib><creatorcontrib>Segura-Aguilar, Juan</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Neuroscience letters</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Perez-Pastene, Carolina</au><au>Cobb, Stephanie A.</au><au>Díaz-Grez, Fernando</au><au>Hulihan, Mary M.</au><au>Miranda, Marcelo</au><au>Venegas, Pablo</au><au>Godoy, Osvaldo Trujillo</au><au>Kachergus, Jennifer M.</au><au>Ross, Owen A.</au><au>Layson, Luis</au><au>Farrer, Matthew J.</au><au>Segura-Aguilar, Juan</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Lrrk2 mutations in South America: A study of Chilean Parkinson's disease</atitle><jtitle>Neuroscience letters</jtitle><addtitle>Neurosci Lett</addtitle><date>2007-07-18</date><risdate>2007</risdate><volume>422</volume><issue>3</issue><spage>193</spage><epage>197</epage><pages>193-197</pages><issn>0304-3940</issn><eissn>1872-7972</eissn><coden>NELED5</coden><abstract>Pathogenic substitutions in the leucine-rich repeat kinase 2 protein (Lrrk2), R1441G and G2019S, are a prevalent cause of autosomal dominant and sporadic Parkinson's disease in the Northern Spanish population. In this study we examined the frequency of these two substitutions in 166 Parkinson's disease patients and 153 controls from Chile, a population with Spanish/European-Amerindian admixture. Lrrk2 R1441G was not observed, however Lrrk2 G2019S was detected in one familial and four sporadic Parkinson's disease patients. These findings suggest Lrrk2 G2019S may play an important role in Parkinson's disease on the South American Continent and further studies are now warranted.</abstract><cop>Shannon</cop><pub>Elsevier Ireland Ltd</pub><pmid>17614198</pmid><doi>10.1016/j.neulet.2007.06.021</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Neuroscience letters, 2007-07, Vol.422 (3), p.193-197 |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Age of Onset Amerindian Biological and medical sciences Chile - epidemiology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Mutational Analysis Female Fundamental and applied biological sciences. Psychology Gene Frequency Genetic Predisposition to Disease Haplotypes Humans Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 LRRK2 Male Medical sciences Middle Aged Mutation Neurology Parkinson Disease - genetics Parkinson's disease Polymerase Chain Reaction Protein-Serine-Threonine Kinases - genetics Vertebrates: nervous system and sense organs |
| title | Lrrk2 mutations in South America: A study of Chilean Parkinson's disease |
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