Mutations in LRRK2 other than G2019S are rare in a north american–based sample of familial Parkinson's disease
Identifieur interne : 003107 ( Main/Corpus ); précédent : 003106; suivant : 003108Mutations in LRRK2 other than G2019S are rare in a north american–based sample of familial Parkinson's disease
Auteurs : Nathan Pankratz ; Michael W. Pauciulo ; Veronika E. Elsaesser ; Diane K. Marek ; Cheryl A. Halter ; Alice Rudolph ; Clifford W. Shults ; Tatiana Foroud ; William C. NicholsSource :
- Movement Disorders [ 0885-3185 ] ; 2006-12.
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Abstract
A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.21162
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ISTEX:AE8D742191B38BC5E52B579390B56A6C6108FA7CLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in LRRK2 other than G2019S are rare in a north american–based sample of familial Parkinson's disease</title><author><name sortKey="Pankratz, Nathan" sort="Pankratz, Nathan" uniqKey="Pankratz N" first="Nathan" last="Pankratz">Nathan Pankratz</name><affiliation><mods:affiliation>Indiana University Medical Center, Indianapolis, Indiana, USA</mods:affiliation></affiliation></author><author><name sortKey="Pauciulo, Michael W" sort="Pauciulo, Michael W" uniqKey="Pauciulo M" first="Michael W." last="Pauciulo">Michael W. Pauciulo</name><affiliation><mods:affiliation>Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</mods:affiliation></affiliation></author><author><name sortKey="Elsaesser, Veronika E" sort="Elsaesser, Veronika E" uniqKey="Elsaesser V" first="Veronika E." last="Elsaesser">Veronika E. 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Halter</name><affiliation><mods:affiliation>Indiana University Medical Center, Indianapolis, Indiana, USA</mods:affiliation></affiliation></author><author><name sortKey="Rudolph, Alice" sort="Rudolph, Alice" uniqKey="Rudolph A" first="Alice" last="Rudolph">Alice Rudolph</name><affiliation><mods:affiliation>University of Rochester, Rochester, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Shults, Clifford W" sort="Shults, Clifford W" uniqKey="Shults C" first="Clifford W." last="Shults">Clifford W. Shults</name><affiliation><mods:affiliation>University of California, La Jolla, and VA San Diego Healthcare System, San Diego, California, USA</mods:affiliation></affiliation></author><author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name><affiliation><mods:affiliation>Indiana University Medical Center, Indianapolis, Indiana, USA</mods:affiliation></affiliation></author><author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name><affiliation><mods:affiliation>Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>University of Cincinnati School of Medicine, Cincinnati, Ohio, 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="2006-12">2006-12</date><biblScope unit="volume">21</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="2257">2257</biblScope><biblScope unit="page" to="2260">2260</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">AE8D742191B38BC5E52B579390B56A6C6108FA7C</idno><idno type="DOI">10.1002/mds.21162</idno><idno type="ArticleID">MDS21162</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>LRRK2</term><term>Parkinson's disease</term><term>mutation</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent. © 2006 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Nathan Pankratz PhD</name><affiliations><json:string>Indiana University Medical Center, Indianapolis, Indiana, USA</json:string></affiliations></json:item><json:item><name>Michael W. Pauciulo MBA</name><affiliations><json:string>Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</json:string></affiliations></json:item><json:item><name>Veronika E. Elsaesser BS</name><affiliations><json:string>Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</json:string></affiliations></json:item><json:item><name>Diane K. Marek BS</name><affiliations><json:string>Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</json:string></affiliations></json:item><json:item><name>Cheryl A. Halter MS</name><affiliations><json:string>Indiana University Medical Center, Indianapolis, Indiana, USA</json:string></affiliations></json:item><json:item><name>Alice Rudolph PhD</name><affiliations><json:string>University of Rochester, Rochester, New York, USA</json:string></affiliations></json:item><json:item><name>Clifford W. Shults MD</name><affiliations><json:string>University of California, La Jolla, and VA San Diego Healthcare System, San Diego, California, USA</json:string></affiliations></json:item><json:item><name>Tatiana Foroud PhD</name><affiliations><json:string>Indiana University Medical Center, Indianapolis, Indiana, USA</json:string></affiliations></json:item><json:item><name>William C. Nichols PhD</name><affiliations><json:string>Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</json:string><json:string>University of Cincinnati School of Medicine, Cincinnati, Ohio, 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>LRRK2</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>mutation</value></json:item></subject><articleId><json:string>MDS21162</json:string></articleId><language><json:string>eng</json:string></language><abstract>A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent. © 2006 Movement Disorder Society</abstract><qualityIndicators><score>3.975</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>3</keywordCount><abstractCharCount>648</abstractCharCount><pdfWordCount>2811</pdfWordCount><pdfCharCount>18190</pdfCharCount><pdfPageCount>4</pdfPageCount><abstractWordCount>97</abstractWordCount></qualityIndicators><title>Mutations in LRRK2 other than G2019S are rare in a north american–based sample of familial Parkinson's 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type="first">Clifford W.</forename><surname>Shults</surname></persName><roleName type="degree">MD</roleName><affiliation>University of California, La Jolla, and VA San Diego Healthcare System, San Diego, California, USA</affiliation></author><author><persName><forename type="first">Tatiana</forename><surname>Foroud</surname></persName><roleName type="degree">PhD</roleName><affiliation>Indiana University Medical Center, Indianapolis, Indiana, USA</affiliation></author><author><persName><forename type="first">William C.</forename><surname>Nichols</surname></persName><roleName type="degree">PhD</roleName><note type="correspondence"><p>Correspondence: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229</p></note><affiliation>Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</affiliation><affiliation>University of Cincinnati School of Medicine, Cincinnati, Ohio, 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I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the <i>LRRK2</i> G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in <i>LRRK2</i> are infrequent. © 2006 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Mutations in LRRK2 other than G2019S are rare in a north american–based sample of familial Parkinson's disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>LRRK2 Mutations in PD</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Mutations in LRRK2 other than G2019S are rare in a north american–based sample of familial Parkinson's disease</title></titleInfo><name type="personal"><namePart type="given">Nathan</namePart><namePart type="family">Pankratz</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Indiana University Medical Center, Indianapolis, Indiana, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Michael W.</namePart><namePart type="family">Pauciulo</namePart><namePart type="termsOfAddress">MBA</namePart><affiliation>Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Veronika E.</namePart><namePart type="family">Elsaesser</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Diane K.</namePart><namePart type="family">Marek</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Cheryl A.</namePart><namePart type="family">Halter</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Indiana University Medical Center, Indianapolis, Indiana, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alice</namePart><namePart type="family">Rudolph</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>University of Rochester, Rochester, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Clifford W.</namePart><namePart type="family">Shults</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>University of California, La Jolla, and VA San Diego Healthcare System, San Diego, California, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tatiana</namePart><namePart type="family">Foroud</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Indiana University Medical Center, Indianapolis, Indiana, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">William C.</namePart><namePart type="family">Nichols</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</affiliation><affiliation>University of Cincinnati School of Medicine, Cincinnati, Ohio, USA</affiliation><description>Correspondence: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229</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</dateIssued><dateCaptured encoding="w3cdtf">2006-07-11</dateCaptured><dateValid encoding="w3cdtf">2006-07-13</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="references">15</extent><extent unit="words">2500</extent></physicalDescription><abstract lang="en">A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent. © 2006 Movement Disorder Society</abstract><note type="funding">R01 NS37167</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>LRRK2</topic><topic>mutation</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>2006</date><detail type="volume"><caption>vol.</caption><number>21</number></detail><detail type="issue"><caption>no.</caption><number>12</number></detail><extent unit="pages"><start>2257</start><end>2260</end><total>3</total></extent></part></relatedItem><identifier type="istex">AE8D742191B38BC5E52B579390B56A6C6108FA7C</identifier><identifier type="DOI">10.1002/mds.21162</identifier><identifier type="ArticleID">MDS21162</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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