PINK1 mutations in sporadic early‐onset Parkinson's disease
Identifieur interne : 002091 ( Main/Corpus ); précédent : 002090; suivant : 002092PINK1 mutations in sporadic early‐onset Parkinson's disease
Auteurs : Eng-King Tan ; Kenneth Yew ; Eva Chua ; K. Puvan ; Hui Shen ; Esther Lee ; Kim-Yoong Puong ; Yi Zhao ; Ratnagopal Pavanni ; Meng-Cheong Wong ; Dominic Jamora ; Deidre De Silva ; Kyaw-Thu Moe ; Fung-Peng Woon ; Yih Yuen ; Louis TanSource :
- Movement Disorders [ 0885-3185 ] ; 2006-06-06.
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Abstract
Pathogenic PINK1 mutations have been described in PARK6‐linked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency of PINK1 mutations in sporadic early‐onset Parkinson's disease (EOPD) Asian patients are lacking. The objectives of this study were to report the frequency of PINK1 mutations of sporadic EOPD in an Asian cohort comprising of ethnic Chinese, Malays, and Indians, and to highlight a PINK1‐positive patient who presented with restless legs symptoms. Eighty consecutive sporadic EOPD patients from the movement disorder clinics of two major tertiary institutions in the country were included. We performed sequence analysis of all the coding and exon–intron junctions of the PINK1 using specific primer sets. In addition, we genotyped polymorphisms detected from the analysis in a group of sporadic PD patients and controls. Three different mutations (two homozygous nonsense and one heterozygous missense) in the putative kinase domain were found in three patients, giving a 3.7% frequency of PINK1 mutations in our EOPD cohort. All the mutations were absent in 200 healthy controls. One patient with a novel homozygous nonsense PINK1 mutation presented unusually with restless legs symptoms. Separately, analysis of the frequency of four PINK1 polymorphisms in a group of sporadic PD and controls did not reveal any significant differences. We highlight a 3.7% frequency of PINK1 mutations in an Asian cohort (ethnic Chinese, Malay, and Indian) of EOPD. The phenotypic spectrum associated with PINK1‐positive patients may be wider than previously reported. Polymorphisms of PINK1 do not appear to modulate risk of PD in our population. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.20810
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sort="Yew, Kenneth" uniqKey="Yew K" first="Kenneth" last="Yew">Kenneth Yew</name><affiliation><mods:affiliation>Department of Neurology, Singapore General Hospital, Singapore</mods:affiliation></affiliation></author><author><name sortKey="Chua, Eva" sort="Chua, Eva" uniqKey="Chua E" first="Eva" last="Chua">Eva Chua</name><affiliation><mods:affiliation>Department of Neurology, Singapore General Hospital, Singapore</mods:affiliation></affiliation></author><author><name sortKey="Puvan, K" sort="Puvan, K" uniqKey="Puvan K" first="K." last="Puvan">K. Puvan</name><affiliation><mods:affiliation>Department of Neurology, Singapore General Hospital, Singapore</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, National Neuroscience Institute, Singapore</mods:affiliation></affiliation></author><author><name sortKey="Shen, Hui" sort="Shen, Hui" uniqKey="Shen H" first="Hui" last="Shen">Hui Shen</name><affiliation><mods:affiliation>Department of Neurology, Singapore General Hospital, Singapore</mods:affiliation></affiliation></author><author><name sortKey="Lee, Esther" sort="Lee, Esther" uniqKey="Lee E" first="Esther" last="Lee">Esther Lee</name><affiliation><mods:affiliation>Department of Neurology, Singapore General Hospital, Singapore</mods:affiliation></affiliation></author><author><name sortKey="Puong, Kim Oong" sort="Puong, Kim Oong" uniqKey="Puong K" first="Kim-Yoong" last="Puong">Kim-Yoong Puong</name><affiliation><mods:affiliation>Department of Clinical Research, Singapore General Hospital, Singapore</mods:affiliation></affiliation></author><author><name sortKey="Zhao, Yi" sort="Zhao, Yi" uniqKey="Zhao Y" first="Yi" last="Zhao">Yi Zhao</name><affiliation><mods:affiliation>Department of Clinical Research, Singapore General Hospital, Singapore</mods:affiliation></affiliation></author><author><name sortKey="Pavanni, Ratnagopal" sort="Pavanni, Ratnagopal" uniqKey="Pavanni R" first="Ratnagopal" last="Pavanni">Ratnagopal Pavanni</name><affiliation><mods:affiliation>Department of Neurology, Singapore General Hospital, Singapore</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, National Neuroscience Institute, Singapore</mods:affiliation></affiliation></author><author><name sortKey="Wong, Meng Heong" sort="Wong, Meng Heong" uniqKey="Wong M" first="Meng-Cheong" last="Wong">Meng-Cheong Wong</name><affiliation><mods:affiliation>Department of Neurology, Singapore General Hospital, Singapore</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, National Neuroscience Institute, Singapore</mods:affiliation></affiliation></author><author><name sortKey="Jamora, Dominic" sort="Jamora, Dominic" uniqKey="Jamora D" first="Dominic" last="Jamora">Dominic Jamora</name><affiliation><mods:affiliation>Department of Neurology, National Neuroscience Institute, Singapore</mods:affiliation></affiliation></author><author><name sortKey="De Silva, Deidre" sort="De Silva, Deidre" uniqKey="De Silva D" first="Deidre" last="De Silva">Deidre De Silva</name><affiliation><mods:affiliation>Department of Neurology, Singapore General Hospital, Singapore</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, National Neuroscience Institute, Singapore</mods:affiliation></affiliation></author><author><name sortKey="Moe, Kyaw Hu" sort="Moe, Kyaw Hu" uniqKey="Moe K" first="Kyaw-Thu" last="Moe">Kyaw-Thu Moe</name><affiliation><mods:affiliation>Department of Neurology, Singapore General Hospital, Singapore</mods:affiliation></affiliation></author><author><name sortKey="Woon, Fung Eng" sort="Woon, Fung Eng" uniqKey="Woon F" first="Fung-Peng" last="Woon">Fung-Peng Woon</name><affiliation><mods:affiliation>Department of Neurology, Singapore General Hospital, Singapore</mods:affiliation></affiliation></author><author><name sortKey="Yuen, Yih" sort="Yuen, Yih" uniqKey="Yuen Y" first="Yih" last="Yuen">Yih Yuen</name><affiliation><mods:affiliation>Department of Health Screening, Singapore General Hospital, Singapore</mods:affiliation></affiliation></author><author><name sortKey="Tan, Louis" sort="Tan, Louis" uniqKey="Tan L" first="Louis" last="Tan">Louis Tan</name><affiliation><mods:affiliation>Department of Neurology, National Neuroscience Institute, Singapore</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="2006-06-06">2006-06-06</date><biblScope unit="volume">21</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="789">789</biblScope><biblScope unit="page" to="793">793</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">225911185FD88696B492DB89EFE16A75594682EE</idno><idno type="DOI">10.1002/mds.20810</idno><idno type="ArticleID">MDS20810</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>PINK1</term><term>Parkinson's disease</term><term>mutation</term><term>restless legs syndrome</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Pathogenic PINK1 mutations have been described in PARK6‐linked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency of PINK1 mutations in sporadic early‐onset Parkinson's disease (EOPD) Asian patients are lacking. The objectives of this study were to report the frequency of PINK1 mutations of sporadic EOPD in an Asian cohort comprising of ethnic Chinese, Malays, and Indians, and to highlight a PINK1‐positive patient who presented with restless legs symptoms. Eighty consecutive sporadic EOPD patients from the movement disorder clinics of two major tertiary institutions in the country were included. We performed sequence analysis of all the coding and exon–intron junctions of the PINK1 using specific primer sets. In addition, we genotyped polymorphisms detected from the analysis in a group of sporadic PD patients and controls. Three different mutations (two homozygous nonsense and one heterozygous missense) in the putative kinase domain were found in three patients, giving a 3.7% frequency of PINK1 mutations in our EOPD cohort. All the mutations were absent in 200 healthy controls. One patient with a novel homozygous nonsense PINK1 mutation presented unusually with restless legs symptoms. Separately, analysis of the frequency of four PINK1 polymorphisms in a group of sporadic PD and controls did not reveal any significant differences. We highlight a 3.7% frequency of PINK1 mutations in an Asian cohort (ethnic Chinese, Malay, and Indian) of EOPD. The phenotypic spectrum associated with PINK1‐positive patients may be wider than previously reported. Polymorphisms of PINK1 do not appear to modulate risk of PD in our population. © 2006 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Eng‐King Tan MD</name><affiliations><json:string>Division of Research, SingHealth, Singapore</json:string><json:string>Department of Neurology, Singapore General Hospital, Singapore</json:string><json:string>Department of Neurology, National Neuroscience Institute, Singapore</json:string></affiliations></json:item><json:item><name>Kenneth Yew BSc</name><affiliations><json:string>Department of Neurology, Singapore General Hospital, Singapore</json:string></affiliations></json:item><json:item><name>Eva Chua BSc</name><affiliations><json:string>Department of Neurology, Singapore General Hospital, Singapore</json:string></affiliations></json:item><json:item><name>K. Puvan MD</name><affiliations><json:string>Department of Neurology, Singapore General Hospital, Singapore</json:string><json:string>Department of Neurology, National Neuroscience Institute, Singapore</json:string></affiliations></json:item><json:item><name>Hui Shen PhD</name><affiliations><json:string>Department of Neurology, Singapore General Hospital, Singapore</json:string></affiliations></json:item><json:item><name>Esther Lee BSc</name><affiliations><json:string>Department of Neurology, Singapore General Hospital, Singapore</json:string></affiliations></json:item><json:item><name>Kim‐Yoong Puong MSc</name><affiliations><json:string>Department of Clinical Research, Singapore General Hospital, Singapore</json:string></affiliations></json:item><json:item><name>Yi Zhao MD, PhD</name><affiliations><json:string>Department of Clinical Research, Singapore General Hospital, Singapore</json:string></affiliations></json:item><json:item><name>Ratnagopal Pavanni MD</name><affiliations><json:string>Department of Neurology, Singapore General Hospital, Singapore</json:string><json:string>Department of Neurology, National Neuroscience Institute, Singapore</json:string></affiliations></json:item><json:item><name>Meng‐Cheong Wong MD</name><affiliations><json:string>Department of Neurology, Singapore General Hospital, Singapore</json:string><json:string>Department of Neurology, National Neuroscience Institute, Singapore</json:string></affiliations></json:item><json:item><name>Dominic Jamora MD</name><affiliations><json:string>Department of Neurology, National Neuroscience Institute, Singapore</json:string></affiliations></json:item><json:item><name>Deidre de Silva MD</name><affiliations><json:string>Department of Neurology, Singapore General Hospital, Singapore</json:string><json:string>Department of Neurology, National Neuroscience Institute, Singapore</json:string></affiliations></json:item><json:item><name>Kyaw‐Thu Moe MD</name><affiliations><json:string>Department of Neurology, Singapore General Hospital, Singapore</json:string></affiliations></json:item><json:item><name>Fung‐Peng Woon BSc</name><affiliations><json:string>Department of Neurology, Singapore General Hospital, Singapore</json:string></affiliations></json:item><json:item><name>Yih Yuen MD</name><affiliations><json:string>Department of Health Screening, Singapore General Hospital, Singapore</json:string></affiliations></json:item><json:item><name>Louis Tan MD</name><affiliations><json:string>Department of Neurology, National Neuroscience Institute, Singapore</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>PINK1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>restless legs syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>mutation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item></subject><articleId><json:string>MDS20810</json:string></articleId><language><json:string>eng</json:string></language><abstract>Pathogenic PINK1 mutations have been described in PARK6‐linked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency of PINK1 mutations in sporadic early‐onset Parkinson's disease (EOPD) Asian patients are lacking. The objectives of this study were to report the frequency of PINK1 mutations of sporadic EOPD in an Asian cohort comprising of ethnic Chinese, Malays, and Indians, and to highlight a PINK1‐positive patient who presented with restless legs symptoms. Eighty consecutive sporadic EOPD patients from the movement disorder clinics of two major tertiary institutions in the country were included. We performed sequence analysis of all the coding and exon–intron junctions of the PINK1 using specific primer sets. In addition, we genotyped polymorphisms detected from the analysis in a group of sporadic PD patients and controls. Three different mutations (two homozygous nonsense and one heterozygous missense) in the putative kinase domain were found in three patients, giving a 3.7% frequency of PINK1 mutations in our EOPD cohort. All the mutations were absent in 200 healthy controls. One patient with a novel homozygous nonsense PINK1 mutation presented unusually with restless legs symptoms. Separately, analysis of the frequency of four PINK1 polymorphisms in a group of sporadic PD and controls did not reveal any significant differences. We highlight a 3.7% frequency of PINK1 mutations in an Asian cohort (ethnic Chinese, Malay, and Indian) of EOPD. The phenotypic spectrum associated with PINK1‐positive patients may be wider than previously reported. Polymorphisms of PINK1 do not appear to modulate risk of PD in our population. © 2006 Movement Disorder Society</abstract><qualityIndicators><score>5.686</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>4</keywordCount><abstractCharCount>1711</abstractCharCount><pdfWordCount>2686</pdfWordCount><pdfCharCount>17191</pdfCharCount><pdfPageCount>5</pdfPageCount><abstractWordCount>257</abstractWordCount></qualityIndicators><title>PINK1 mutations in sporadic early‐onset Parkinson's disease</title><genre><json:string>article</json:string></genre><host><volume>21</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>5</total><last>793</last><first>789</first></pages><issn><json:string>0885-3185</json:string></issn><issue>6</issue><subject><json:item><value>Research 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Road, Singapore 169608, Singapore</p></note><affiliation>Division of Research, SingHealth, Singapore</affiliation><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><affiliation>Department of Neurology, National Neuroscience Institute, Singapore</affiliation></author><author><persName><forename type="first">Kenneth</forename><surname>Yew</surname></persName><roleName type="degree">BSc</roleName><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation></author><author><persName><forename type="first">Eva</forename><surname>Chua</surname></persName><roleName type="degree">BSc</roleName><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation></author><author><persName><forename type="first">K.</forename><surname>Puvan</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><affiliation>Department of Neurology, National Neuroscience Institute, Singapore</affiliation></author><author><persName><forename type="first">Hui</forename><surname>Shen</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation></author><author><persName><forename type="first">Esther</forename><surname>Lee</surname></persName><roleName type="degree">BSc</roleName><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation></author><author><persName><forename type="first">Kim‐Yoong</forename><surname>Puong</surname></persName><roleName type="degree">MSc</roleName><affiliation>Department of Clinical Research, Singapore General Hospital, Singapore</affiliation></author><author><persName><forename type="first">Yi</forename><surname>Zhao</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>Department of Clinical Research, Singapore General Hospital, Singapore</affiliation></author><author><persName><forename type="first">Ratnagopal</forename><surname>Pavanni</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><affiliation>Department of Neurology, National Neuroscience Institute, Singapore</affiliation></author><author><persName><forename type="first">Meng‐Cheong</forename><surname>Wong</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><affiliation>Department of Neurology, National Neuroscience Institute, Singapore</affiliation></author><author><persName><forename type="first">Dominic</forename><surname>Jamora</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, National Neuroscience Institute, Singapore</affiliation></author><author><persName><forename type="first">Deidre</forename><surname>de Silva</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><affiliation>Department of Neurology, National Neuroscience Institute, Singapore</affiliation></author><author><persName><forename type="first">Kyaw‐Thu</forename><surname>Moe</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation></author><author><persName><forename type="first">Fung‐Peng</forename><surname>Woon</surname></persName><roleName type="degree">BSc</roleName><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation></author><author><persName><forename type="first">Yih</forename><surname>Yuen</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Health Screening, Singapore General Hospital, Singapore</affiliation></author><author><persName><forename type="first">Louis</forename><surname>Tan</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, National Neuroscience Institute, Singapore</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-06-06"></date><biblScope unit="volume">21</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="789">789</biblScope><biblScope unit="page" to="793">793</biblScope></imprint></monogr><idno type="istex">225911185FD88696B492DB89EFE16A75594682EE</idno><idno type="DOI">10.1002/mds.20810</idno><idno type="ArticleID">MDS20810</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2006</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Pathogenic PINK1 mutations have been described in PARK6‐linked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency of PINK1 mutations in sporadic early‐onset Parkinson's disease (EOPD) Asian patients are lacking. The objectives of this study were to report the frequency of PINK1 mutations of sporadic EOPD in an Asian cohort comprising of ethnic Chinese, Malays, and Indians, and to highlight a PINK1‐positive patient who presented with restless legs symptoms. Eighty consecutive sporadic EOPD patients from the movement disorder clinics of two major tertiary institutions in the country were included. We performed sequence analysis of all the coding and exon–intron junctions of the PINK1 using specific primer sets. In addition, we genotyped polymorphisms detected from the analysis in a group of sporadic PD patients and controls. Three different mutations (two homozygous nonsense and one heterozygous missense) in the putative kinase domain were found in three patients, giving a 3.7% frequency of PINK1 mutations in our EOPD cohort. All the mutations were absent in 200 healthy controls. One patient with a novel homozygous nonsense PINK1 mutation presented unusually with restless legs symptoms. Separately, analysis of the frequency of four PINK1 polymorphisms in a group of sporadic PD and controls did not reveal any significant differences. We highlight a 3.7% frequency of PINK1 mutations in an Asian cohort (ethnic Chinese, Malay, and Indian) of EOPD. The phenotypic spectrum associated with PINK1‐positive patients may be wider than previously reported. Polymorphisms of PINK1 do not appear to modulate risk of PD in our population. © 2006 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>PINK1</term></item><item><term>restless legs syndrome</term></item><item><term>mutation</term></item><item><term>Parkinson's disease</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="2005-06-17">Received</change><change when="2005-09-09">Registration</change><change when="2006-06-06">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/225911185FD88696B492DB89EFE16A75594682EE/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. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="60"><doi origin="wiley" registered="yes">10.1002/mds.v21:6</doi><numberingGroup><numbering type="journalVolume" number="21">21</numbering><numbering type="journalIssue">6</numbering></numberingGroup><coverDate startDate="2006-06-06">6 June 2006</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="90" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.20810</doi><idGroup><id type="unit" value="MDS20810"></id></idGroup><countGroup><count type="pageTotal" number="5"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2006 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2005-06-17"></event><event type="manuscriptRevised" date="2005-08-25"></event><event type="manuscriptAccepted" date="2005-09-09"></event><event type="firstOnline" date="2006-02-15"></event><event type="publishedOnlineFinalForm" date="2006-06-06"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2006-02-15"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.4.7 mode:FullText" date="2011-03-17"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">789</numbering><numbering type="pageLast">793</numbering></numberingGroup><correspondenceTo>Department of Neurology, Singapore General Hospital, Outram Road, Singapore 169608, Singapore</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS20810.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="2"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="19"></count><count type="wordTotal" number="3010"></count></countGroup><titleGroup><title type="main" xml:lang="en"><i>PINK1</i> mutations in sporadic early‐onset Parkinson's disease</title><title type="short" xml:lang="en">PINK1 Mutations</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2 #af3" corresponding="yes"><personName><givenNames>Eng‐King</givenNames><familyName>Tan</familyName><degrees>MD</degrees></personName><contactDetails><email>gnrtek@sgh.com.sg</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Kenneth</givenNames><familyName>Yew</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Eva</givenNames><familyName>Chua</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af2 #af3"><personName><givenNames>K.</givenNames><familyName>Puvan</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Hui</givenNames><familyName>Shen</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Esther</givenNames><familyName>Lee</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Kim‐Yoong</givenNames><familyName>Puong</familyName><degrees>MSc</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Yi</givenNames><familyName>Zhao</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af2 #af3"><personName><givenNames>Ratnagopal</givenNames><familyName>Pavanni</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af2 #af3"><personName><givenNames>Meng‐Cheong</givenNames><familyName>Wong</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Dominic</givenNames><familyName>Jamora</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af2 #af3"><personName><givenNames>Deidre</givenNames><familyName>de Silva</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au13" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Kyaw‐Thu</givenNames><familyName>Moe</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au14" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Fung‐Peng</givenNames><familyName>Woon</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au15" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Yih</givenNames><familyName>Yuen</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au16" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Louis</givenNames><familyName>Tan</familyName><degrees>MD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="SG" type="organization"><unparsedAffiliation>Division of Research, SingHealth, Singapore</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="SG" type="organization"><unparsedAffiliation>Department of Neurology, Singapore General Hospital, Singapore</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="SG" type="organization"><unparsedAffiliation>Department of Neurology, National Neuroscience Institute, Singapore</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="SG" type="organization"><unparsedAffiliation>Department of Clinical Research, Singapore General Hospital, Singapore</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="SG" type="organization"><unparsedAffiliation>Department of Health Screening, Singapore General Hospital, Singapore</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1"><i>PINK1</i></keyword><keyword xml:id="kwd2">restless legs syndrome</keyword><keyword xml:id="kwd3">mutation</keyword><keyword xml:id="kwd4">Parkinson's disease</keyword></keywordGroup><fundingInfo><fundingAgency>National Medical Research Council and Biomedical Research Council of Singapore</fundingAgency></fundingInfo><fundingInfo><fundingAgency>SingHealth</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Pathogenic <i>PINK1</i> mutations have been described in PARK6‐linked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency of <i>PINK1</i> mutations in sporadic early‐onset Parkinson's disease (EOPD) Asian patients are lacking. The objectives of this study were to report the frequency of <i>PINK1</i> mutations of sporadic EOPD in an Asian cohort comprising of ethnic Chinese, Malays, and Indians, and to highlight a <i>PINK1</i>‐positive patient who presented with restless legs symptoms. Eighty consecutive sporadic EOPD patients from the movement disorder clinics of two major tertiary institutions in the country were included. We performed sequence analysis of all the coding and exon–intron junctions of the <i>PINK1</i> using specific primer sets. In addition, we genotyped polymorphisms detected from the analysis in a group of sporadic PD patients and controls. Three different mutations (two homozygous nonsense and one heterozygous missense) in the putative kinase domain were found in three patients, giving a 3.7% frequency of <i>PINK1</i> mutations in our EOPD cohort. All the mutations were absent in 200 healthy controls. One patient with a novel homozygous nonsense <i>PINK1</i> mutation presented unusually with restless legs symptoms. Separately, analysis of the frequency of four <i>PINK1</i> polymorphisms in a group of sporadic PD and controls did not reveal any significant differences. We highlight a 3.7% frequency of <i>PINK1</i> mutations in an Asian cohort (ethnic Chinese, Malay, and Indian) of EOPD. The phenotypic spectrum associated with <i>PINK1</i>‐positive patients may be wider than previously reported. Polymorphisms of <i>PINK1</i> do not appear to modulate risk of PD in our population. © 2006 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>PINK1 mutations in sporadic early‐onset Parkinson's disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>PINK1 Mutations</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>mutations in sporadic early‐onset Parkinson's disease</title></titleInfo><name type="personal"><namePart type="given">Eng‐King</namePart><namePart type="family">Tan</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Division of Research, SingHealth, Singapore</affiliation><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><affiliation>Department of Neurology, National Neuroscience Institute, Singapore</affiliation><description>Correspondence: Department of Neurology, Singapore General Hospital, Outram Road, Singapore 169608, Singapore</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kenneth</namePart><namePart type="family">Yew</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Eva</namePart><namePart type="family">Chua</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">K.</namePart><namePart type="family">Puvan</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><affiliation>Department of Neurology, National Neuroscience Institute, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hui</namePart><namePart type="family">Shen</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Esther</namePart><namePart type="family">Lee</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kim‐Yoong</namePart><namePart type="family">Puong</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Department of Clinical Research, Singapore General Hospital, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yi</namePart><namePart type="family">Zhao</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Clinical Research, Singapore General Hospital, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ratnagopal</namePart><namePart type="family">Pavanni</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><affiliation>Department of Neurology, National Neuroscience Institute, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Meng‐Cheong</namePart><namePart type="family">Wong</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><affiliation>Department of Neurology, National Neuroscience Institute, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Dominic</namePart><namePart type="family">Jamora</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, National Neuroscience Institute, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Deidre</namePart><namePart type="family">de Silva</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><affiliation>Department of Neurology, National Neuroscience Institute, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kyaw‐Thu</namePart><namePart type="family">Moe</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Fung‐Peng</namePart><namePart type="family">Woon</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Department of Neurology, Singapore General Hospital, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yih</namePart><namePart type="family">Yuen</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Health Screening, Singapore General Hospital, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Louis</namePart><namePart type="family">Tan</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, National Neuroscience Institute, Singapore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2006-06-06</dateIssued><dateCaptured encoding="w3cdtf">2005-06-17</dateCaptured><dateValid encoding="w3cdtf">2005-09-09</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">2</extent><extent unit="tables">2</extent><extent unit="references">19</extent><extent unit="words">3010</extent></physicalDescription><abstract lang="en">Pathogenic PINK1 mutations have been described in PARK6‐linked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency of PINK1 mutations in sporadic early‐onset Parkinson's disease (EOPD) Asian patients are lacking. The objectives of this study were to report the frequency of PINK1 mutations of sporadic EOPD in an Asian cohort comprising of ethnic Chinese, Malays, and Indians, and to highlight a PINK1‐positive patient who presented with restless legs symptoms. Eighty consecutive sporadic EOPD patients from the movement disorder clinics of two major tertiary institutions in the country were included. We performed sequence analysis of all the coding and exon–intron junctions of the PINK1 using specific primer sets. In addition, we genotyped polymorphisms detected from the analysis in a group of sporadic PD patients and controls. Three different mutations (two homozygous nonsense and one heterozygous missense) in the putative kinase domain were found in three patients, giving a 3.7% frequency of PINK1 mutations in our EOPD cohort. All the mutations were absent in 200 healthy controls. One patient with a novel homozygous nonsense PINK1 mutation presented unusually with restless legs symptoms. Separately, analysis of the frequency of four PINK1 polymorphisms in a group of sporadic PD and controls did not reveal any significant differences. We highlight a 3.7% frequency of PINK1 mutations in an Asian cohort (ethnic Chinese, Malay, and Indian) of EOPD. The phenotypic spectrum associated with PINK1‐positive patients may be wider than previously reported. Polymorphisms of PINK1 do not appear to modulate risk of PD in our population. © 2006 Movement Disorder Society</abstract><note type="funding">National Medical Research Council and Biomedical Research Council of Singapore</note><note type="funding">SingHealth</note><subject lang="en"><genre>Keywords</genre><topic>PINK1</topic><topic>restless legs syndrome</topic><topic>mutation</topic><topic>Parkinson's disease</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>2006</date><detail type="volume"><caption>vol.</caption><number>21</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>789</start><end>793</end><total>5</total></extent></part></relatedItem><identifier type="istex">225911185FD88696B492DB89EFE16A75594682EE</identifier><identifier type="DOI">10.1002/mds.20810</identifier><identifier type="ArticleID">MDS20810</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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