Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism
Identifieur interne : 001F17 ( Main/Corpus ); précédent : 001F16; suivant : 001F18Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism
Auteurs : Ming-Jen Lee ; Ignacio F. Mata ; Chin-Hsien Lin ; Kai-Yuan Tzen ; Sarah J. Lincoln ; Rebecca Bounds ; Paul J. Lockhart ; Mary M. Hulihan ; Matthew J. Farrer ; Ruey-Meei WuSource :
- Movement Disorders [ 0885-3185 ] ; 2009-01-15.
English descriptors
- KwdEn :
Abstract
We screened for mutations in the PARKIN, DJ‐1, and PINK1 genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early‐onset parkinsonism (EOP, onset <50 years of age). We identified 9 patients harboring mutations in PARKIN (three compound heterozygous and six single heterozygous carriers), 3 patients with heterozygous PINK1 mutations (including two novel substitutions M341I and P209A), and no DJ‐1 mutations. Our frequencies of PARKIN (two allele mutation, 4.4%; single allele, 8.8%) and PINK1 (single heterozygous, 4.4%) mutations in Taiwanese–Chinese are similar to those in Caucasian and other Asian EOP patients. Although the role of heterozygosity of recessive genes in EOP remains to be resolved, molecular analysis and functional imaging will play a decisive role in differential diagnosis and determined therapeutic strategy. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.22093
Links to Exploration step
ISTEX:78A0B29962C731B2F0E869057FC0A0F0F557D090Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism</title><author><name sortKey="Lee, Ming En" sort="Lee, Ming En" uniqKey="Lee M" first="Ming-Jen" last="Lee">Ming-Jen Lee</name><affiliation><mods:affiliation>Department of Medical Genetics, National TaiwanUniversity Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Mata, Ignacio F" sort="Mata, Ignacio F" uniqKey="Mata I" first="Ignacio F." last="Mata">Ignacio F. Mata</name><affiliation><mods:affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Lin, Chin Sien" sort="Lin, Chin Sien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name><affiliation><mods:affiliation>Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Tzen, Kai Uan" sort="Tzen, Kai Uan" uniqKey="Tzen K" first="Kai-Yuan" last="Tzen">Kai-Yuan Tzen</name><affiliation><mods:affiliation>Department of Nuclear Medicine, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</name><affiliation><mods:affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Bounds, Rebecca" sort="Bounds, Rebecca" uniqKey="Bounds R" first="Rebecca" last="Bounds">Rebecca Bounds</name><affiliation><mods:affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J." last="Lockhart">Paul J. Lockhart</name><affiliation><mods:affiliation>Bruce Lefroy Centre for Genetic Health Research,Murdoch Childrens Research Institute, Melbourne, Victoria, Australia</mods:affiliation></affiliation></author><author><name sortKey="Hulihan, Mary M" sort="Hulihan, Mary M" uniqKey="Hulihan M" first="Mary M." last="Hulihan">Mary M. Hulihan</name><affiliation><mods:affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation><mods:affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Wu, Ruey Eei" sort="Wu, Ruey Eei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name><affiliation><mods:affiliation>Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:78A0B29962C731B2F0E869057FC0A0F0F557D090</idno><date when="2009" year="2009">2009</date><idno type="doi">10.1002/mds.22093</idno><idno type="url">https://api.istex.fr/document/78A0B29962C731B2F0E869057FC0A0F0F557D090/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">001F17</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism</title><author><name sortKey="Lee, Ming En" sort="Lee, Ming En" uniqKey="Lee M" first="Ming-Jen" last="Lee">Ming-Jen Lee</name><affiliation><mods:affiliation>Department of Medical Genetics, National TaiwanUniversity Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Mata, Ignacio F" sort="Mata, Ignacio F" uniqKey="Mata I" first="Ignacio F." last="Mata">Ignacio F. Mata</name><affiliation><mods:affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Lin, Chin Sien" sort="Lin, Chin Sien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name><affiliation><mods:affiliation>Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Tzen, Kai Uan" sort="Tzen, Kai Uan" uniqKey="Tzen K" first="Kai-Yuan" last="Tzen">Kai-Yuan Tzen</name><affiliation><mods:affiliation>Department of Nuclear Medicine, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</name><affiliation><mods:affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Bounds, Rebecca" sort="Bounds, Rebecca" uniqKey="Bounds R" first="Rebecca" last="Bounds">Rebecca Bounds</name><affiliation><mods:affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J." last="Lockhart">Paul J. Lockhart</name><affiliation><mods:affiliation>Bruce Lefroy Centre for Genetic Health Research,Murdoch Childrens Research Institute, Melbourne, Victoria, Australia</mods:affiliation></affiliation></author><author><name sortKey="Hulihan, Mary M" sort="Hulihan, Mary M" uniqKey="Hulihan M" first="Mary M." last="Hulihan">Mary M. Hulihan</name><affiliation><mods:affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation><mods:affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Wu, Ruey Eei" sort="Wu, Ruey Eei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name><affiliation><mods:affiliation>Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</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="2009-01-15">2009-01-15</date><biblScope unit="volume">24</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="104">104</biblScope><biblScope unit="page" to="108">108</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">78A0B29962C731B2F0E869057FC0A0F0F557D090</idno><idno type="DOI">10.1002/mds.22093</idno><idno type="ArticleID">MDS22093</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DJ‐1</term><term>PARKIN</term><term>PINK1</term><term>Parkinson's disease</term><term>Taiwanese</term><term>early‐onset parkinsonism</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We screened for mutations in the PARKIN, DJ‐1, and PINK1 genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early‐onset parkinsonism (EOP, onset <50 years of age). We identified 9 patients harboring mutations in PARKIN (three compound heterozygous and six single heterozygous carriers), 3 patients with heterozygous PINK1 mutations (including two novel substitutions M341I and P209A), and no DJ‐1 mutations. Our frequencies of PARKIN (two allele mutation, 4.4%; single allele, 8.8%) and PINK1 (single heterozygous, 4.4%) mutations in Taiwanese–Chinese are similar to those in Caucasian and other Asian EOP patients. Although the role of heterozygosity of recessive genes in EOP remains to be resolved, molecular analysis and functional imaging will play a decisive role in differential diagnosis and determined therapeutic strategy. © 2008 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Ming‐Jen Lee MD, PhD</name><affiliations><json:string>Department of Medical Genetics, National TaiwanUniversity Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</json:string></affiliations></json:item><json:item><name>Ignacio F. Mata PhD</name><affiliations><json:string>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Chin‐Hsien Lin MD</name><affiliations><json:string>Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</json:string></affiliations></json:item><json:item><name>Kai‐Yuan Tzen MD</name><affiliations><json:string>Department of Nuclear Medicine, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</json:string></affiliations></json:item><json:item><name>Sarah J. Lincoln BSc</name><affiliations><json:string>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Rebecca Bounds BSc</name><affiliations><json:string>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Paul J. Lockhart PhD</name><affiliations><json:string>Bruce Lefroy Centre for Genetic Health Research,Murdoch Childrens Research Institute, Melbourne, Victoria, Australia</json:string></affiliations></json:item><json:item><name>Mary M. Hulihan MSc</name><affiliations><json:string>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Matthew J. Farrer PhD</name><affiliations><json:string>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Ruey‐Meei Wu MD, PhD</name><affiliations><json:string>Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>PARKIN</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>DJ‐1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>PINK1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>early‐onset parkinsonism</value></json:item><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>Taiwanese</value></json:item></subject><articleId><json:string>MDS22093</json:string></articleId><language><json:string>eng</json:string></language><abstract>We screened for mutations in the PARKIN, DJ‐1, and PINK1 genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early‐onset parkinsonism (EOP, onset >50 years of age). We identified 9 patients harboring mutations in PARKIN (three compound heterozygous and six single heterozygous carriers), 3 patients with heterozygous PINK1 mutations (including two novel substitutions M341I and P209A), and no DJ‐1 mutations. Our frequencies of PARKIN (two allele mutation, 4.4%; single allele, 8.8%) and PINK1 (single heterozygous, 4.4%) mutations in Taiwanese–Chinese are similar to those in Caucasian and other Asian EOP patients. Although the role of heterozygosity of recessive genes in EOP remains to be resolved, molecular analysis and functional imaging will play a decisive role in differential diagnosis and determined therapeutic strategy. © 2008 Movement Disorder Society</abstract><qualityIndicators><score>6.56</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>6</keywordCount><abstractCharCount>890</abstractCharCount><pdfWordCount>18996</pdfWordCount><pdfCharCount>125960</pdfCharCount><pdfPageCount>34</pdfPageCount><abstractWordCount>130</abstractWordCount></qualityIndicators><title>Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism</title><genre><json:string>article</json:string></genre><host><volume>24</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>5</total><last>108</last><first>104</first></pages><issn><json:string>0885-3185</json:string></issn><issue>1</issue><subject><json:item><value>Brief Report</value></json:item></subject><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1531-8257</json:string></eissn><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2009</publicationDate><copyrightDate>2009</copyrightDate><doi><json:string>10.1002/mds.22093</json:string></doi><id>78A0B29962C731B2F0E869057FC0A0F0F557D090</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/78A0B29962C731B2F0E869057FC0A0F0F557D090/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/78A0B29962C731B2F0E869057FC0A0F0F557D090/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/78A0B29962C731B2F0E869057FC0A0F0F557D090/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2009</date></publicationStmt><notesStmt><note>Morris K. Udall Centre of Excellence for Parkinson's disease research (Genetic Core) at Mayo Jacksonville - No. P50 NS40256;</note><note>National Science Council, Taiwan - No. NSC93‐2314‐B002‐241; No. NSC 94‐2314‐B‐002‐036;</note><note>National Taiwan University Hospital - No. NTUH.94A10;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism</title><author><persName><forename type="first">Ming‐Jen</forename><surname>Lee</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>Department of Medical Genetics, National TaiwanUniversity Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</affiliation></author><author><persName><forename type="first">Ignacio F.</forename><surname>Mata</surname></persName><roleName type="degree">PhD</roleName><affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Chin‐Hsien</forename><surname>Lin</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</affiliation></author><author><persName><forename type="first">Kai‐Yuan</forename><surname>Tzen</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Nuclear Medicine, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</affiliation></author><author><persName><forename type="first">Sarah J.</forename><surname>Lincoln</surname></persName><roleName type="degree">BSc</roleName><affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Rebecca</forename><surname>Bounds</surname></persName><roleName type="degree">BSc</roleName><affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Paul J.</forename><surname>Lockhart</surname></persName><roleName type="degree">PhD</roleName><affiliation>Bruce Lefroy Centre for Genetic Health Research,Murdoch Childrens Research Institute, Melbourne, Victoria, Australia</affiliation></author><author><persName><forename type="first">Mary M.</forename><surname>Hulihan</surname></persName><roleName type="degree">MSc</roleName><affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Matthew J.</forename><surname>Farrer</surname></persName><roleName type="degree">PhD</roleName><affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Ruey‐Meei</forename><surname>Wu</surname></persName><roleName type="degree">MD, PhD</roleName><note type="correspondence"><p>Correspondence: Department of Neurology, National Taiwan University Hospital, Taipei 100, Taiwan</p></note><affiliation>Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</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="2009-01-15"></date><biblScope unit="volume">24</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="104">104</biblScope><biblScope unit="page" to="108">108</biblScope></imprint></monogr><idno type="istex">78A0B29962C731B2F0E869057FC0A0F0F557D090</idno><idno type="DOI">10.1002/mds.22093</idno><idno type="ArticleID">MDS22093</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2009</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>We screened for mutations in the PARKIN, DJ‐1, and PINK1 genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early‐onset parkinsonism (EOP, onset <50 years of age). We identified 9 patients harboring mutations in PARKIN (three compound heterozygous and six single heterozygous carriers), 3 patients with heterozygous PINK1 mutations (including two novel substitutions M341I and P209A), and no DJ‐1 mutations. Our frequencies of PARKIN (two allele mutation, 4.4%; single allele, 8.8%) and PINK1 (single heterozygous, 4.4%) mutations in Taiwanese–Chinese are similar to those in Caucasian and other Asian EOP patients. Although the role of heterozygosity of recessive genes in EOP remains to be resolved, molecular analysis and functional imaging will play a decisive role in differential diagnosis and determined therapeutic strategy. © 2008 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>PARKIN</term></item><item><term>DJ‐1</term></item><item><term>PINK1</term></item><item><term>early‐onset parkinsonism</term></item><item><term>Parkinson's disease</term></item><item><term>Taiwanese</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Brief Report</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2007-08-17">Received</change><change when="2008-03-31">Registration</change><change when="2009-01-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/78A0B29962C731B2F0E869057FC0A0F0F557D090/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="10"><doi origin="wiley" registered="yes">10.1002/mds.v24:1</doi><numberingGroup><numbering type="journalVolume" number="24">24</numbering><numbering type="journalIssue">1</numbering></numberingGroup><coverDate startDate="2009-01-15">15 January 2009</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="140" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.22093</doi><idGroup><id type="unit" value="MDS22093"></id></idGroup><countGroup><count type="pageTotal" number="5"></count></countGroup><titleGroup><title type="articleCategory">Brief Report</title><title type="tocHeading1">Brief Reports</title></titleGroup><copyright ownership="thirdParty">Copyright © 2008 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2007-08-17"></event><event type="manuscriptRevised" date="2008-02-10"></event><event type="manuscriptAccepted" date="2008-03-31"></event><event type="firstOnline" date="2008-11-12"></event><event type="publishedOnlineFinalForm" date="2009-01-23"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2008-11-12"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.4.7 mode:FullText source:FullText result:FullText mathml2tex" date="2011-02-24"></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">104</numbering><numbering type="pageLast">108</numbering></numberingGroup><correspondenceTo>Department of Neurology, National Taiwan University Hospital, Taipei 100, Taiwan</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS22093.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="31"></count><count type="wordTotal" number="3237"></count></countGroup><titleGroup><title type="main" xml:lang="en">Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism</title><title type="short" xml:lang="en">Mutations of Recessive Parkinsonism Genes</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Ming‐Jen</givenNames><familyName>Lee</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Ignacio F.</givenNames><familyName>Mata</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Chin‐Hsien</givenNames><familyName>Lin</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Kai‐Yuan</givenNames><familyName>Tzen</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Sarah J.</givenNames><familyName>Lincoln</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Rebecca</givenNames><familyName>Bounds</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Paul J.</givenNames><familyName>Lockhart</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Mary M.</givenNames><familyName>Hulihan</familyName><degrees>MSc</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Matthew J.</givenNames><familyName>Farrer</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af3" corresponding="yes"><personName><givenNames>Ruey‐Meei</givenNames><familyName>Wu</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email>robinwu@ntu.edu.tw</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="TW" type="organization"><unparsedAffiliation>Department of Medical Genetics, National TaiwanUniversity Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="TW" type="organization"><unparsedAffiliation>Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="TW" type="organization"><unparsedAffiliation>Department of Nuclear Medicine, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="AU" type="organization"><unparsedAffiliation>Bruce Lefroy Centre for Genetic Health Research,Murdoch Childrens Research Institute, Melbourne, Victoria, Australia</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1"><i>PARKIN</i></keyword><keyword xml:id="kwd2"><i>DJ‐1</i></keyword><keyword xml:id="kwd3"><i>PINK1</i></keyword><keyword xml:id="kwd4">early‐onset parkinsonism</keyword><keyword xml:id="kwd5">Parkinson's disease</keyword><keyword xml:id="kwd6">Taiwanese</keyword></keywordGroup><fundingInfo><fundingAgency>Morris K. Udall Centre of Excellence for Parkinson's disease research (Genetic Core) at Mayo Jacksonville</fundingAgency><fundingNumber>P50 NS40256</fundingNumber></fundingInfo><fundingInfo><fundingAgency>National Science Council, Taiwan</fundingAgency><fundingNumber>NSC93‐2314‐B002‐241</fundingNumber><fundingNumber>NSC 94‐2314‐B‐002‐036</fundingNumber></fundingInfo><fundingInfo><fundingAgency>National Taiwan University Hospital</fundingAgency><fundingNumber>NTUH.94A10</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>We screened for mutations in the <i>PARKIN</i>, <i>DJ‐1</i>, and <i>PINK1</i> genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early‐onset parkinsonism (EOP, onset <50 years of age). We identified 9 patients harboring mutations in <i>PARKIN</i> (three compound heterozygous and six single heterozygous carriers), 3 patients with heterozygous <i>PINK1</i> mutations (including two novel substitutions M341I and P209A), and no <i>DJ‐1</i> mutations. Our frequencies of <i>PARKIN</i> (two allele mutation, 4.4%; single allele, 8.8%) and <i>PINK1</i> (single heterozygous, 4.4%) mutations in Taiwanese–Chinese are similar to those in Caucasian and other Asian EOP patients. Although the role of heterozygosity of recessive genes in EOP remains to be resolved, molecular analysis and functional imaging will play a decisive role in differential diagnosis and determined therapeutic strategy. © 2008 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Mutations of Recessive Parkinsonism Genes</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism</title></titleInfo><name type="personal"><namePart type="given">Ming‐Jen</namePart><namePart type="family">Lee</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Medical Genetics, National TaiwanUniversity Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ignacio F.</namePart><namePart type="family">Mata</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Chin‐Hsien</namePart><namePart type="family">Lin</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kai‐Yuan</namePart><namePart type="family">Tzen</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Nuclear Medicine, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sarah J.</namePart><namePart type="family">Lincoln</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Rebecca</namePart><namePart type="family">Bounds</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Paul J.</namePart><namePart type="family">Lockhart</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Bruce Lefroy Centre for Genetic Health Research,Murdoch Childrens Research Institute, Melbourne, Victoria, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mary M.</namePart><namePart type="family">Hulihan</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Matthew J.</namePart><namePart type="family">Farrer</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ruey‐Meei</namePart><namePart type="family">Wu</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan</affiliation><description>Correspondence: Department of Neurology, National Taiwan University Hospital, Taipei 100, Taiwan</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">2009-01-15</dateIssued><dateCaptured encoding="w3cdtf">2007-08-17</dateCaptured><dateValid encoding="w3cdtf">2008-03-31</dateValid><copyrightDate encoding="w3cdtf">2009</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">1</extent><extent unit="references">31</extent><extent unit="words">3237</extent></physicalDescription><abstract lang="en">We screened for mutations in the PARKIN, DJ‐1, and PINK1 genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early‐onset parkinsonism (EOP, onset <50 years of age). We identified 9 patients harboring mutations in PARKIN (three compound heterozygous and six single heterozygous carriers), 3 patients with heterozygous PINK1 mutations (including two novel substitutions M341I and P209A), and no DJ‐1 mutations. Our frequencies of PARKIN (two allele mutation, 4.4%; single allele, 8.8%) and PINK1 (single heterozygous, 4.4%) mutations in Taiwanese–Chinese are similar to those in Caucasian and other Asian EOP patients. Although the role of heterozygosity of recessive genes in EOP remains to be resolved, molecular analysis and functional imaging will play a decisive role in differential diagnosis and determined therapeutic strategy. © 2008 Movement Disorder Society</abstract><note type="funding">Morris K. Udall Centre of Excellence for Parkinson's disease research (Genetic Core) at Mayo Jacksonville - No. P50 NS40256; </note><note type="funding">National Science Council, Taiwan - No. NSC93‐2314‐B002‐241; No. NSC 94‐2314‐B‐002‐036; </note><note type="funding">National Taiwan University Hospital - No. NTUH.94A10; </note><subject lang="en"><genre>Keywords</genre><topic>PARKIN</topic><topic>DJ‐1</topic><topic>PINK1</topic><topic>early‐onset parkinsonism</topic><topic>Parkinson's disease</topic><topic>Taiwanese</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>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>2009</date><detail type="volume"><caption>vol.</caption><number>24</number></detail><detail type="issue"><caption>no.</caption><number>1</number></detail><extent unit="pages"><start>104</start><end>108</end><total>5</total></extent></part></relatedItem><identifier type="istex">78A0B29962C731B2F0E869057FC0A0F0F557D090</identifier><identifier type="DOI">10.1002/mds.22093</identifier><identifier type="ArticleID">MDS22093</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2008 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)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001F17 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Corpus/biblio.hfd -nk 001F17 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonV1
|flux= Main
|étape= Corpus
|type= RBID
|clé= ISTEX:78A0B29962C731B2F0E869057FC0A0F0F557D090
|texte= Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism
}}
| This area was generated with Dilib version V0.6.23. |  |