Parkin gene variations in late‐onset Parkinson's disease: comparison between Norwegian and German cohorts
Identifieur interne : 000931 ( Main/Corpus ); précédent : 000930; suivant : 000932Parkin gene variations in late‐onset Parkinson's disease: comparison between Norwegian and German cohorts
Auteurs : A. M. Schlitter ; M. Kurz ; J. P. Larsen ; D. Woitalla ; T. Müller ; J. T. Epplen ; G. DekomienSource :
- Acta Neurologica Scandinavica [ 0001-6314 ] ; 2006-01.
English descriptors
Abstract
Objectives – Mutations in the Parkin gene can cause autosomal recessive early‐onset Parkinson's disease (PD). Recently, Parkin mutations were also suggested to play a role in the commoner late‐onset forms of PD. Methods – We compared a German cohort of PD patients (95) with a Norwegian cohort of PD patients (96). Both cohorts have predominant late‐onset form of PD. Mutation and polymorphism frequencies were compared via single‐strand conformation polymorphism and sequence analyses. Results – Three heterozygous missense mutations (Arg256Cys, Arg402Cys and Thr240Met) were found in late‐onset PD patients in the German patient cohort (1.6%). A missense mutation (Arg402Cys) was also found in one of 149 healthy control subjects (0.3%). Only one heterozygous missense mutation (Arg256Cys) was identified in a Norwegian patient suffering from late‐onset PD (0.5%). The frequencies of four known single nucleotide polymorphisms significantly differ between the two distant European populations. Conclusion – The results support the hypothesis that heterozygous mutations in the Parkin gene may act as susceptibility alleles for late‐onset forms of PD in rare cases.
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DOI: 10.1111/j.1600-0404.2005.00532.x
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Larsen</name><affiliation><mods:affiliation>Department of Neurology, Stavanger University Hospital, Stavanger, Norway</mods:affiliation></affiliation></author><author><name sortKey="Woitalla, D" sort="Woitalla, D" uniqKey="Woitalla D" first="D." last="Woitalla">D. Woitalla</name><affiliation><mods:affiliation>Department of Neurology, St. Josef‐Hospital, Ruhr‐University Bochum, Bochum, Germany</mods:affiliation></affiliation></author><author><name sortKey="Muller, T" sort="Muller, T" uniqKey="Muller T" first="T." last="Müller">T. Müller</name><affiliation><mods:affiliation>Department of Neurology, St. Josef‐Hospital, Ruhr‐University Bochum, Bochum, Germany</mods:affiliation></affiliation></author><author><name sortKey="Epplen, J T" sort="Epplen, J T" uniqKey="Epplen J" first="J. T." last="Epplen">J. T. 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Schlitter</name><affiliation><mods:affiliation>Department of Human Genetics, Ruhr‐University Bochum, Bochum, Germany</mods:affiliation></affiliation></author><author><name sortKey="Kurz, M" sort="Kurz, M" uniqKey="Kurz M" first="M." last="Kurz">M. Kurz</name><affiliation><mods:affiliation>Department of Neurology, Heinrich‐Heine‐University Düsseldorf, Dusseldorf, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Stavanger University Hospital, Stavanger, Norway</mods:affiliation></affiliation></author><author><name sortKey="Larsen, J P" sort="Larsen, J P" uniqKey="Larsen J" first="J. P." last="Larsen">J. P. Larsen</name><affiliation><mods:affiliation>Department of Neurology, Stavanger University Hospital, Stavanger, Norway</mods:affiliation></affiliation></author><author><name sortKey="Woitalla, D" sort="Woitalla, D" uniqKey="Woitalla D" first="D." last="Woitalla">D. Woitalla</name><affiliation><mods:affiliation>Department of Neurology, St. Josef‐Hospital, Ruhr‐University Bochum, Bochum, Germany</mods:affiliation></affiliation></author><author><name sortKey="Muller, T" sort="Muller, T" uniqKey="Muller T" first="T." last="Müller">T. Müller</name><affiliation><mods:affiliation>Department of Neurology, St. Josef‐Hospital, Ruhr‐University Bochum, Bochum, Germany</mods:affiliation></affiliation></author><author><name sortKey="Epplen, J T" sort="Epplen, J T" uniqKey="Epplen J" first="J. T." last="Epplen">J. T. Epplen</name><affiliation><mods:affiliation>Department of Human Genetics, Ruhr‐University Bochum, Bochum, Germany</mods:affiliation></affiliation></author><author><name sortKey="Dekomien, G" sort="Dekomien, G" uniqKey="Dekomien G" first="G." last="Dekomien">G. Dekomien</name><affiliation><mods:affiliation>Department of Human Genetics, Ruhr‐University Bochum, Bochum, Germany</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Acta Neurologica Scandinavica</title><idno type="ISSN">0001-6314</idno><idno type="eISSN">1600-0404</idno><imprint><publisher>Munksgaard International Publishers</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2006-01">2006-01</date><biblScope unit="volume">113</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="9">9</biblScope><biblScope unit="page" to="13">13</biblScope></imprint><idno type="ISSN">0001-6314</idno></series><idno type="istex">7B41AC9F60A28902A6470FD54E35C9AC23186D58</idno><idno type="DOI">10.1111/j.1600-0404.2005.00532.x</idno><idno type="ArticleID">ANE532</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0001-6314</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Norway</term><term>Parkin</term><term>heterozygosity</term><term>late‐onset Parkinson's disease</term><term>susceptibility allele</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Objectives – Mutations in the Parkin gene can cause autosomal recessive early‐onset Parkinson's disease (PD). Recently, Parkin mutations were also suggested to play a role in the commoner late‐onset forms of PD. Methods – We compared a German cohort of PD patients (95) with a Norwegian cohort of PD patients (96). Both cohorts have predominant late‐onset form of PD. Mutation and polymorphism frequencies were compared via single‐strand conformation polymorphism and sequence analyses. Results – Three heterozygous missense mutations (Arg256Cys, Arg402Cys and Thr240Met) were found in late‐onset PD patients in the German patient cohort (1.6%). A missense mutation (Arg402Cys) was also found in one of 149 healthy control subjects (0.3%). Only one heterozygous missense mutation (Arg256Cys) was identified in a Norwegian patient suffering from late‐onset PD (0.5%). The frequencies of four known single nucleotide polymorphisms significantly differ between the two distant European populations. Conclusion – The results support the hypothesis that heterozygous mutations in the Parkin gene may act as susceptibility alleles for late‐onset forms of PD in rare cases.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>A. M. Schlitter</name><affiliations><json:string>Department of Human Genetics, Ruhr‐University Bochum, Bochum, Germany</json:string></affiliations></json:item><json:item><name>M. Kurz</name><affiliations><json:string>Department of Neurology, Heinrich‐Heine‐University Düsseldorf, Dusseldorf, Germany</json:string><json:string>Department of Neurology, Stavanger University Hospital, Stavanger, Norway</json:string></affiliations></json:item><json:item><name>J. P. Larsen</name><affiliations><json:string>Department of Neurology, Stavanger University Hospital, Stavanger, Norway</json:string></affiliations></json:item><json:item><name>D. Woitalla</name><affiliations><json:string>Department of Neurology, St. Josef‐Hospital, Ruhr‐University Bochum, Bochum, Germany</json:string></affiliations></json:item><json:item><name>T. Müller</name><affiliations><json:string>Department of Neurology, St. Josef‐Hospital, Ruhr‐University Bochum, Bochum, Germany</json:string></affiliations></json:item><json:item><name>J. T. Epplen</name><affiliations><json:string>Department of Human Genetics, Ruhr‐University Bochum, Bochum, Germany</json:string></affiliations></json:item><json:item><name>G. Dekomien</name><affiliations><json:string>Department of Human Genetics, Ruhr‐University Bochum, Bochum, Germany</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>heterozygosity</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>late‐onset Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Norway</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkin</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>susceptibility allele</value></json:item></subject><articleId><json:string>ANE532</json:string></articleId><language><json:string>eng</json:string></language><abstract>Objectives – Mutations in the Parkin gene can cause autosomal recessive early‐onset Parkinson's disease (PD). Recently, Parkin mutations were also suggested to play a role in the commoner late‐onset forms of PD. Methods – We compared a German cohort of PD patients (95) with a Norwegian cohort of PD patients (96). Both cohorts have predominant late‐onset form of PD. Mutation and polymorphism frequencies were compared via single‐strand conformation polymorphism and sequence analyses. Results – Three heterozygous missense mutations (Arg256Cys, Arg402Cys and Thr240Met) were found in late‐onset PD patients in the German patient cohort (1.6%). A missense mutation (Arg402Cys) was also found in one of 149 healthy control subjects (0.3%). Only one heterozygous missense mutation (Arg256Cys) was identified in a Norwegian patient suffering from late‐onset PD (0.5%). The frequencies of four known single nucleotide polymorphisms significantly differ between the two distant European populations. Conclusion – The results support the hypothesis that heterozygous mutations in the Parkin gene may act as susceptibility alleles for late‐onset forms of PD in rare cases.</abstract><qualityIndicators><score>5.366</score><pdfVersion>1.4</pdfVersion><pdfPageSize>595 x 782 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>5</keywordCount><abstractCharCount>1170</abstractCharCount><pdfWordCount>2838</pdfWordCount><pdfCharCount>18987</pdfCharCount><pdfPageCount>5</pdfPageCount><abstractWordCount>169</abstractWordCount></qualityIndicators><title>Parkin gene variations in late‐onset Parkinson's disease: comparison between Norwegian and German cohorts</title><genre><json:string>article</json:string></genre><host><volume>113</volume><publisherId><json:string>ANE</json:string></publisherId><pages><total>5</total><last>13</last><first>9</first></pages><issn><json:string>0001-6314</json:string></issn><issue>1</issue><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1600-0404</json:string></eissn><title>Acta Neurologica Scandinavica</title><doi><json:string>10.1111/(ISSN)1600-0404</json:string></doi></host><publicationDate>2006</publicationDate><copyrightDate>2006</copyrightDate><doi><json:string>10.1111/j.1600-0404.2005.00532.x</json:string></doi><id>7B41AC9F60A28902A6470FD54E35C9AC23186D58</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/7B41AC9F60A28902A6470FD54E35C9AC23186D58/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/7B41AC9F60A28902A6470FD54E35C9AC23186D58/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/7B41AC9F60A28902A6470FD54E35C9AC23186D58/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Parkin gene variations in late‐onset Parkinson's disease: comparison between Norwegian and German cohorts</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Munksgaard International Publishers</publisher><pubPlace>Oxford, UK</pubPlace><availability><p>WILEY</p></availability><date>2006</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Parkin gene variations in late‐onset Parkinson's disease: comparison between Norwegian and German cohorts</title><author><persName><forename type="first">A. M.</forename><surname>Schlitter</surname></persName><affiliation>Department of Human Genetics, Ruhr‐University Bochum, Bochum, Germany</affiliation></author><author><persName><forename type="first">M.</forename><surname>Kurz</surname></persName><affiliation>Department of Neurology, Heinrich‐Heine‐University Düsseldorf, Dusseldorf, Germany</affiliation><affiliation>Department of Neurology, Stavanger University Hospital, Stavanger, Norway</affiliation></author><author><persName><forename type="first">J. P.</forename><surname>Larsen</surname></persName><affiliation>Department of Neurology, Stavanger University Hospital, Stavanger, Norway</affiliation></author><author><persName><forename type="first">D.</forename><surname>Woitalla</surname></persName><affiliation>Department of Neurology, St. Josef‐Hospital, Ruhr‐University Bochum, Bochum, Germany</affiliation></author><author><persName><forename type="first">T.</forename><surname>Müller</surname></persName><affiliation>Department of Neurology, St. Josef‐Hospital, Ruhr‐University Bochum, Bochum, Germany</affiliation></author><author><persName><forename type="first">J. T.</forename><surname>Epplen</surname></persName><affiliation>Department of Human Genetics, Ruhr‐University Bochum, Bochum, Germany</affiliation></author><author><persName><forename type="first">G.</forename><surname>Dekomien</surname></persName><affiliation>Department of Human Genetics, Ruhr‐University Bochum, Bochum, Germany</affiliation></author></analytic><monogr><title level="j">Acta Neurologica Scandinavica</title><idno type="pISSN">0001-6314</idno><idno type="eISSN">1600-0404</idno><idno type="DOI">10.1111/(ISSN)1600-0404</idno><imprint><publisher>Munksgaard International Publishers</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2006-01"></date><biblScope unit="volume">113</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="9">9</biblScope><biblScope unit="page" to="13">13</biblScope></imprint></monogr><idno type="istex">7B41AC9F60A28902A6470FD54E35C9AC23186D58</idno><idno type="DOI">10.1111/j.1600-0404.2005.00532.x</idno><idno type="ArticleID">ANE532</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2006</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Objectives – Mutations in the Parkin gene can cause autosomal recessive early‐onset Parkinson's disease (PD). Recently, Parkin mutations were also suggested to play a role in the commoner late‐onset forms of PD. Methods – We compared a German cohort of PD patients (95) with a Norwegian cohort of PD patients (96). Both cohorts have predominant late‐onset form of PD. Mutation and polymorphism frequencies were compared via single‐strand conformation polymorphism and sequence analyses. Results – Three heterozygous missense mutations (Arg256Cys, Arg402Cys and Thr240Met) were found in late‐onset PD patients in the German patient cohort (1.6%). A missense mutation (Arg402Cys) was also found in one of 149 healthy control subjects (0.3%). Only one heterozygous missense mutation (Arg256Cys) was identified in a Norwegian patient suffering from late‐onset PD (0.5%). The frequencies of four known single nucleotide polymorphisms significantly differ between the two distant European populations. Conclusion – The results support the hypothesis that heterozygous mutations in the Parkin gene may act as susceptibility alleles for late‐onset forms of PD in rare cases.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>heterozygosity</term></item><item><term>late‐onset Parkinson's disease</term></item><item><term>Norway</term></item><item><term>Parkin</term></item><item><term>susceptibility allele</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2006-01">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/7B41AC9F60A28902A6470FD54E35C9AC23186D58/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>Munksgaard International Publishers</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1600-0404</doi><issn type="print">0001-6314</issn><issn type="electronic">1600-0404</issn><idGroup><id type="product" value="ANE"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="ACTA NEUROLOGICA SCANDINAVICA">Acta Neurologica Scandinavica</title></titleGroup></publicationMeta><publicationMeta level="part" position="01001"><doi origin="wiley">10.1111/ane.2006.113.issue-1</doi><numberingGroup><numbering type="journalVolume" number="113">113</numbering><numbering type="journalIssue" number="1">1</numbering></numberingGroup><coverDate startDate="2006-01">January 2006</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="2" status="forIssue"><doi origin="wiley">10.1111/j.1600-0404.2005.00532.x</doi><idGroup><id type="unit" value="ANE532"></id></idGroup><countGroup><count type="pageTotal" number="5"></count></countGroup><titleGroup><title type="tocHeading1"><i>Original articles</i></title></titleGroup><eventGroup><event type="firstOnline" date="2005-11-18"></event><event type="publishedOnlineFinalForm" date="2005-11-18"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.3.2 mode:FullText source:FullText result:FullText" date="2010-03-10"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:4.0.1" date="2014-03-15"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-14"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="9">9</numbering><numbering type="pageLast" number="13">13</numbering></numberingGroup><correspondenceTo>Gabriele Dekomien, Department of Human Genetics, Ruhr‐University Bochum, 44780 Bochum, Germany
Tel.: +49 234 322 5764
Fax: +49 234 321 4196
e‐mail: <email>gabriele.dekomien@rub.de</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:ANE.ANE532.pdf"></link></linkGroup></publicationMeta><contentMeta><unparsedEditorialHistory>Accepted for publication September 21, 2005</unparsedEditorialHistory><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="4"></count></countGroup><titleGroup><title type="main"><i>Parkin</i> gene variations in late‐onset Parkinson's disease: comparison between Norwegian and German cohorts</title><title type="shortAuthors"><b>Schlitter et al.</b></title><title type="short"><b><i>Parkin</i> gene variations in late‐onset Parkinson's disease</b></title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1"><personName><givenNames>A. M.</givenNames><familyName>Schlitter</familyName></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a2 #a3"><personName><givenNames>M.</givenNames><familyName>Kurz</familyName></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a3"><personName><givenNames>J. P.</givenNames><familyName>Larsen</familyName></personName></creator><creator creatorRole="author" xml:id="cr4" affiliationRef="#a4"><personName><givenNames>D.</givenNames><familyName>Woitalla</familyName></personName></creator><creator creatorRole="author" xml:id="cr5" affiliationRef="#a4"><personName><givenNames>T.</givenNames><familyName>Müller</familyName></personName></creator><creator creatorRole="author" xml:id="cr6" affiliationRef="#a1"><personName><givenNames>J. T.</givenNames><familyName>Epplen</familyName></personName></creator><creator creatorRole="author" xml:id="cr7" affiliationRef="#a1"><personName><givenNames>G.</givenNames><familyName>Dekomien</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="a1" countryCode="DE"><unparsedAffiliation>Department of Human Genetics, Ruhr‐University Bochum, Bochum, Germany</unparsedAffiliation></affiliation><affiliation xml:id="a2" countryCode="DE"><unparsedAffiliation>Department of Neurology, Heinrich‐Heine‐University Düsseldorf, Dusseldorf, Germany</unparsedAffiliation></affiliation><affiliation xml:id="a3" countryCode="NO"><unparsedAffiliation>Department of Neurology, Stavanger University Hospital, Stavanger, Norway</unparsedAffiliation></affiliation><affiliation xml:id="a4" countryCode="DE"><unparsedAffiliation>Department of Neurology, St. Josef‐Hospital, Ruhr‐University Bochum, Bochum, Germany</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en"><keyword xml:id="k1">heterozygosity</keyword><keyword xml:id="k2">late‐onset Parkinson's disease</keyword><keyword xml:id="k3">Norway</keyword><keyword xml:id="k4"><i>Parkin</i></keyword><keyword xml:id="k5">susceptibility allele</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><!-- Schlitter AM, Kurz M, Larsen JP, Woitalla D, Müller T, Epplen JT, Dekomien G. Parkin gene variations in late-onset Parkinson's disease: comparison between Norwegian and German cohorts.
Acta Neurol Scand 2005: DOI: 10.1111/j.1600-0404.2005.00532.x.
© Blackwell Munksgaard 2005. --><p><b>Objectives – </b> Mutations in the <i>Parkin</i> gene can cause autosomal recessive early‐onset Parkinson's disease (PD). Recently, <i>Parkin</i> mutations were also suggested to play a role in the commoner late‐onset forms of PD.</p><p><b>Methods – </b> We compared a German cohort of PD patients (95) with a Norwegian cohort of PD patients (96). Both cohorts have predominant late‐onset form of PD. Mutation and polymorphism frequencies were compared via single‐strand conformation polymorphism and sequence analyses.</p><p><b>Results – </b> Three heterozygous missense mutations (Arg256Cys, Arg402Cys and Thr240Met) were found in late‐onset PD patients in the German patient cohort (1.6%). A missense mutation (Arg402Cys) was also found in one of 149 healthy control subjects (0.3%). Only one heterozygous missense mutation (Arg256Cys) was identified in a Norwegian patient suffering from late‐onset PD (0.5%). The frequencies of four known single nucleotide polymorphisms significantly differ between the two distant European populations.</p><p><b>Conclusion – </b> The results support the hypothesis that heterozygous mutations in the <i>Parkin</i> gene may act as susceptibility alleles for late‐onset forms of PD in rare cases.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Parkin gene variations in late‐onset Parkinson's disease: comparison between Norwegian and German cohorts</title></titleInfo><titleInfo type="abbreviated"><title>Parkin gene variations in late‐onset Parkinson's disease</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>gene variations in late‐onset Parkinson's disease: comparison between Norwegian and German cohorts</title></titleInfo><name type="personal"><namePart type="given">A. M.</namePart><namePart type="family">Schlitter</namePart><affiliation>Department of Human Genetics, Ruhr‐University Bochum, Bochum, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M.</namePart><namePart type="family">Kurz</namePart><affiliation>Department of Neurology, Heinrich‐Heine‐University Düsseldorf, Dusseldorf, Germany</affiliation><affiliation>Department of Neurology, Stavanger University Hospital, Stavanger, Norway</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J. P.</namePart><namePart type="family">Larsen</namePart><affiliation>Department of Neurology, Stavanger University Hospital, Stavanger, Norway</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">D.</namePart><namePart type="family">Woitalla</namePart><affiliation>Department of Neurology, St. Josef‐Hospital, Ruhr‐University Bochum, Bochum, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">T.</namePart><namePart type="family">Müller</namePart><affiliation>Department of Neurology, St. Josef‐Hospital, Ruhr‐University Bochum, Bochum, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J. T.</namePart><namePart type="family">Epplen</namePart><affiliation>Department of Human Genetics, Ruhr‐University Bochum, Bochum, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">G.</namePart><namePart type="family">Dekomien</namePart><affiliation>Department of Human Genetics, Ruhr‐University Bochum, Bochum, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Munksgaard International Publishers</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">2006-01</dateIssued><edition>Accepted for publication September 21, 2005</edition><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="tables">4</extent></physicalDescription><abstract lang="en">Objectives – Mutations in the Parkin gene can cause autosomal recessive early‐onset Parkinson's disease (PD). Recently, Parkin mutations were also suggested to play a role in the commoner late‐onset forms of PD. Methods – We compared a German cohort of PD patients (95) with a Norwegian cohort of PD patients (96). Both cohorts have predominant late‐onset form of PD. Mutation and polymorphism frequencies were compared via single‐strand conformation polymorphism and sequence analyses. Results – Three heterozygous missense mutations (Arg256Cys, Arg402Cys and Thr240Met) were found in late‐onset PD patients in the German patient cohort (1.6%). A missense mutation (Arg402Cys) was also found in one of 149 healthy control subjects (0.3%). Only one heterozygous missense mutation (Arg256Cys) was identified in a Norwegian patient suffering from late‐onset PD (0.5%). The frequencies of four known single nucleotide polymorphisms significantly differ between the two distant European populations. Conclusion – The results support the hypothesis that heterozygous mutations in the Parkin gene may act as susceptibility alleles for late‐onset forms of PD in rare cases.</abstract><subject lang="en"><genre>Keywords</genre><topic>heterozygosity</topic><topic>late‐onset Parkinson's disease</topic><topic>Norway</topic><topic>Parkin</topic><topic>susceptibility allele</topic></subject><relatedItem type="host"><titleInfo><title>Acta Neurologica Scandinavica</title></titleInfo><genre type="Journal">journal</genre><identifier type="ISSN">0001-6314</identifier><identifier type="eISSN">1600-0404</identifier><identifier type="DOI">10.1111/(ISSN)1600-0404</identifier><identifier type="PublisherID">ANE</identifier><part><date>2006</date><detail type="volume"><caption>vol.</caption><number>113</number></detail><detail type="issue"><caption>no.</caption><number>1</number></detail><extent unit="pages"><start>9</start><end>13</end><total>5</total></extent></part></relatedItem><identifier type="istex">7B41AC9F60A28902A6470FD54E35C9AC23186D58</identifier><identifier type="DOI">10.1111/j.1600-0404.2005.00532.x</identifier><identifier type="ArticleID">ANE532</identifier><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Munksgaard International Publishers</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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