Parkin mutations are frequent in patients with isolated early‐onset parkinsonism
Identifieur interne : 001D16 ( Main/Corpus ); précédent : 001D15; suivant : 001D17Parkin mutations are frequent in patients with isolated early‐onset parkinsonism
Auteurs : Magali Periquet ; Morwena Latouche ; Ebba Lohmann ; Nina Rawal ; Giuseppe De Michele ; Sylvain Ricard ; He Lio Teive ; Vale Rie Fraix ; Marie Vidailhet ; David Nicholl ; Paolo Barone ; Nick W. Wood ; Salmo Raskin ; Jean-Franc Ois Deleuze ; Yves Agid ; Alexandra Du Rr ; Alexis BriceSource :
- Brain [ 0006-8950 ] ; 2003-06.
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Abstract
Parkin gene mutations are reported to be a major cause of early‐onset parkinsonism (age at onset ≤45 years) in families with autosomal recessive inheritance and in isolated juvenile‐onset parkinsonism (age at onset <20 years). However, the precise frequency of parkin mutations in isolated cases is not known. In order to evaluate the frequency of parkin mutations in patients with isolated early‐onset parkinsonism according to their age at onset, we studied 146 patients of various geographical origin with an age at onset ≤45 years. All were screened for mutations in the parkin gene using semi‐quantitative polymerase chain reaction combined with sequencing of the entire coding region. We identified parkin mutations in 20 patients including three new exon rearrangements and two new missense mutations. These results, taken in conjunction with those of our previous study (Lücking et al., 2000) show that parkin mutations account for at least 15% (38 out of 246) of our early‐onset cases without family history, but that the proportion decreases significantly with increasing age at onset. There were no clinical group differences between parkin cases and other patients with early‐onset parkinsonism. However, a single case presenting with cerebellar ataxia several years before typical parkinsonism extends the spectrum of parkin related‐disease.
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DOI: 10.1093/brain/awg136
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ISTEX:DEB4706B4634B67E45513FF14DEA841395194611Le document en format XML
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Wood</name><affiliation><mods:affiliation></mods:affiliation></affiliation></author><author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name><affiliation><mods:affiliation></mods:affiliation></affiliation></author><author><name sortKey="Deleuze, Jean Ranc Ois" sort="Deleuze, Jean Ranc Ois" uniqKey="Deleuze J" first="Jean-Franc Ois" last="Deleuze">Jean-Franc Ois Deleuze</name><affiliation><mods:affiliation></mods:affiliation></affiliation></author><author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name><affiliation><mods:affiliation></mods:affiliation></affiliation><affiliation><mods:affiliation></mods:affiliation></affiliation></author><author><name sortKey="Du Rr, Alexandra" sort="Du Rr, Alexandra" uniqKey="Du Rr A" first="Alexandra" last="Du Rr">Alexandra Du Rr</name><affiliation><mods:affiliation></mods:affiliation></affiliation><affiliation><mods:affiliation></mods:affiliation></affiliation><affiliation><mods:affiliation></mods:affiliation></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation><mods:affiliation></mods:affiliation></affiliation><affiliation><mods:affiliation></mods:affiliation></affiliation><affiliation><mods:affiliation></mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Brain</title><title level="j" type="abbrev">Brain</title><idno type="ISSN">0006-8950</idno><idno type="eISSN">1460-2156</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="2003-06">2003-06</date><biblScope unit="volume">126</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="1271">1271</biblScope><biblScope unit="page" to="1278">1278</biblScope></imprint><idno type="ISSN">0006-8950</idno></series><idno type="istex">DEB4706B4634B67E45513FF14DEA841395194611</idno><idno type="DOI">10.1093/brain/awg136</idno><idno type="local">awg136</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0006-8950</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abbreviations: PCR = polymerase chain reaction</term><term>Keywords: parkin; mutation frequency; isolated early‐onset parkinsonism</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkin gene mutations are reported to be a major cause of early‐onset parkinsonism (age at onset ≤45 years) in families with autosomal recessive inheritance and in isolated juvenile‐onset parkinsonism (age at onset <20 years). However, the precise frequency of parkin mutations in isolated cases is not known. In order to evaluate the frequency of parkin mutations in patients with isolated early‐onset parkinsonism according to their age at onset, we studied 146 patients of various geographical origin with an age at onset ≤45 years. All were screened for mutations in the parkin gene using semi‐quantitative polymerase chain reaction combined with sequencing of the entire coding region. We identified parkin mutations in 20 patients including three new exon rearrangements and two new missense mutations. These results, taken in conjunction with those of our previous study (Lücking et al., 2000) show that parkin mutations account for at least 15% (38 out of 246) of our early‐onset cases without family history, but that the proportion decreases significantly with increasing age at onset. There were no clinical group differences between parkin cases and other patients with early‐onset parkinsonism. However, a single case presenting with cerebellar ataxia several years before typical parkinsonism extends the spectrum of parkin related‐disease.</div></front></TEI><istex><corpusName>oup</corpusName><author><json:item><name>Magali Periquet</name><affiliations><json:string>INSERM U289,</json:string></affiliations></json:item><json:item><name>Morwena Latouche</name><affiliations><json:string>INSERM U289,</json:string></affiliations></json:item><json:item><name>Ebba Lohmann</name><affiliations><json:string>INSERM U289,</json:string></affiliations></json:item><json:item><name>Nina Rawal</name><affiliations><json:string>INSERM U289,</json:string></affiliations></json:item><json:item><name>Giuseppe De Michele</name><affiliations><json:string>Dipartimento di Scienze Neurologiche, Università Federico II, Napoli, Italy,</json:string></affiliations></json:item><json:item><name>Sylvain Ricard</name><affiliations><json:string>Biotechnology Department, Aventis Pharma, Vitry sur Seine, France,</json:string></affiliations></json:item><json:item><name>Hélio Teive</name><affiliations><json:string>Departamento de Neurologia, Hospital de Clinicas and</json:string></affiliations></json:item><json:item><name>Valérie Fraix</name><affiliations><json:string>Service de Neurologie, CHU de Grenoble, Grenoble, and</json:string></affiliations></json:item><json:item><name>Marie Vidailhet</name><affiliations><json:string>INSERM U289,</json:string><json:string>Service de Neurologie, Hôpital Saint Antoine, Paris,</json:string></affiliations></json:item><json:item><name>David Nicholl</name><affiliations><json:string>Department of Clinical Neurology, Queen Elizabeth Hospital, Birmingham, and</json:string></affiliations></json:item><json:item><name>Paolo Barone</name><affiliations><json:string>Dipartimento di Scienze Neurologiche, Università Federico II, Napoli, Italy,</json:string></affiliations></json:item><json:item><name>Nick W. Wood</name><affiliations><json:string>Institute of Neurology, London, UK</json:string></affiliations></json:item><json:item><name>Salmo Raskin</name><affiliations><json:string>Laboratorio Genetika, Curitiba Parana, Brazil,</json:string></affiliations></json:item><json:item><name>Jean‐François Deleuze</name><affiliations><json:string>Biotechnology Department, Aventis Pharma, Vitry sur Seine, France,</json:string></affiliations></json:item><json:item><name>Yves Agid</name><affiliations><json:string>INSERM U289,</json:string><json:string>Fédération de Neurologie, Hôpital de la Salpêtrière and</json:string></affiliations></json:item><json:item><name>Alexandra Dürr</name><affiliations><json:string>INSERM U289,</json:string><json:string>Département de Génétique, Cytogénétique et Embryologie and</json:string><json:string>Fédération de Neurologie, Hôpital de la Salpêtrière and</json:string></affiliations></json:item><json:item><name>Alexis Brice</name><affiliations><json:string>INSERM U289,</json:string><json:string>Département de Génétique, Cytogénétique et Embryologie and</json:string><json:string>Fédération de Neurologie, Hôpital de la Salpêtrière and</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Keywords: parkin; mutation frequency; isolated early‐onset parkinsonism</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Abbreviations: PCR = polymerase chain reaction</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Parkin gene mutations are reported to be a major cause of early‐onset parkinsonism (age at onset ≤45 years) in families with autosomal recessive inheritance and in isolated juvenile‐onset parkinsonism (age at onset >20 years). However, the precise frequency of parkin mutations in isolated cases is not known. In order to evaluate the frequency of parkin mutations in patients with isolated early‐onset parkinsonism according to their age at onset, we studied 146 patients of various geographical origin with an age at onset ≤45 years. All were screened for mutations in the parkin gene using semi‐quantitative polymerase chain reaction combined with sequencing of the entire coding region. We identified parkin mutations in 20 patients including three new exon rearrangements and two new missense mutations. These results, taken in conjunction with those of our previous study (Lücking et al., 2000) show that parkin mutations account for at least 15% (38 out of 246) of our early‐onset cases without family history, but that the proportion decreases significantly with increasing age at onset. There were no clinical group differences between parkin cases and other patients with early‐onset parkinsonism. However, a single case presenting with cerebellar ataxia several years before typical parkinsonism extends the spectrum of parkin related‐disease.</abstract><qualityIndicators><score>7.157</score><pdfVersion>1.2</pdfVersion><pdfPageSize>612 x 792 pts (letter)</pdfPageSize><refBibsNative>false</refBibsNative><keywordCount>2</keywordCount><abstractCharCount>1355</abstractCharCount><pdfWordCount>4793</pdfWordCount><pdfCharCount>30319</pdfCharCount><pdfPageCount>8</pdfPageCount><abstractWordCount>197</abstractWordCount></qualityIndicators><title>Parkin mutations are frequent in patients with isolated early‐onset parkinsonism</title><genre><json:string>research-article</json:string></genre><host><volume>126</volume><pages><last>1278</last><first>1271</first></pages><issn><json:string>0006-8950</json:string></issn><issue>6</issue><genre></genre><language><json:string>unknown</json:string></language><eissn><json:string>1460-2156</json:string></eissn><title>Brain</title></host><categories><wos><json:string>CLINICAL NEUROLOGY</json:string><json:string>NEUROSCIENCES</json:string></wos></categories><publicationDate>2003</publicationDate><copyrightDate>2003</copyrightDate><doi><json:string>10.1093/brain/awg136</json:string></doi><id>DEB4706B4634B67E45513FF14DEA841395194611</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/DEB4706B4634B67E45513FF14DEA841395194611/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/DEB4706B4634B67E45513FF14DEA841395194611/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/DEB4706B4634B67E45513FF14DEA841395194611/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Parkin mutations are frequent in patients with isolated early‐onset parkinsonism</title><respStmt xml:id="ISTEX-API" resp="Références bibliographiques récupérées via GROBID" name="ISTEX-API (INIST-CNRS)"></respStmt></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Oxford University Press</publisher><availability><p>OUP</p></availability><date>2003</date></publicationStmt><notesStmt><note>Correspondence to: Alexis Brice, INSERM U289, Hôpital de la Salpêtrière, 47, Boulevard de l’Hôpital, 75651 Paris cedex 13, France E‐mail: brice@ccr.jussieu.fr. * Y. Agid, A.‐M. Bonnet, M. Borg, A. Brice, E. Broussolle, Ph. Damier, A. Destée, A. Dürr, F. Durif, J. Feingold, G. Fénelon, E. Lohmann, M. Martinez, C. Penet, P. Pollak, O. Rascol, F. Tison, C. Tranchant, M. Vérin, F. Viallet, M. Vidailhet and J.‐M. Warter. ** N.W. Wood and D. Nicholl (UK); A. Brice, A. Dürr, M. Martinez and Y. Agid (France); T. Gasser and B. Müller‐Myhsok (Germany); M. Breteler, S. Harhangi and B. Oostra (The Netherlands); V. Bonifati, N. Vanacore, G. De Michele, E. Fabrizio, A. Filla and G. Meco (Italy)</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Parkin mutations are frequent in patients with isolated early‐onset parkinsonism</title><author><persName><forename type="first">Magali</forename><surname>Periquet</surname></persName><affiliation></affiliation></author><author><persName><forename type="first">Morwena</forename><surname>Latouche</surname></persName><affiliation></affiliation></author><author><persName><forename type="first">Ebba</forename><surname>Lohmann</surname></persName><affiliation></affiliation></author><author><persName><forename type="first">Nina</forename><surname>Rawal</surname></persName><affiliation></affiliation></author><author><persName><forename type="first">Giuseppe</forename><surname>De Michele</surname></persName><affiliation></affiliation></author><author><persName><forename type="first">Sylvain</forename><surname>Ricard</surname></persName><affiliation></affiliation></author><author><persName><forename type="first">Hélio</forename><surname>Teive</surname></persName><affiliation></affiliation></author><author><persName><forename type="first">Valérie</forename><surname>Fraix</surname></persName><affiliation></affiliation></author><author><persName><forename type="first">Marie</forename><surname>Vidailhet</surname></persName><affiliation></affiliation><affiliation></affiliation></author><author><persName><forename type="first">David</forename><surname>Nicholl</surname></persName><affiliation></affiliation></author><author><persName><forename type="first">Paolo</forename><surname>Barone</surname></persName><affiliation></affiliation></author><author><persName><forename type="first">Nick W.</forename><surname>Wood</surname></persName><affiliation></affiliation></author><author><persName><forename type="first">Salmo</forename><surname>Raskin</surname></persName><affiliation></affiliation></author><author><persName><forename type="first">Jean‐François</forename><surname>Deleuze</surname></persName><affiliation></affiliation></author><author><persName><forename type="first">Yves</forename><surname>Agid</surname></persName><affiliation></affiliation><affiliation></affiliation></author><author><persName><forename type="first">Alexandra</forename><surname>Dürr</surname></persName><affiliation></affiliation><affiliation></affiliation><affiliation></affiliation></author><author><persName><forename type="first">Alexis</forename><surname>Brice</surname></persName><affiliation></affiliation><affiliation></affiliation><affiliation></affiliation></author></analytic><monogr><title level="j">Brain</title><title level="j" type="abbrev">Brain</title><idno type="pISSN">0006-8950</idno><idno type="eISSN">1460-2156</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="2003-06"></date><biblScope unit="volume">126</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="1271">1271</biblScope><biblScope unit="page" to="1278">1278</biblScope></imprint></monogr><idno type="istex">DEB4706B4634B67E45513FF14DEA841395194611</idno><idno type="DOI">10.1093/brain/awg136</idno><idno type="local">awg136</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2003</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Parkin gene mutations are reported to be a major cause of early‐onset parkinsonism (age at onset ≤45 years) in families with autosomal recessive inheritance and in isolated juvenile‐onset parkinsonism (age at onset <20 years). However, the precise frequency of parkin mutations in isolated cases is not known. In order to evaluate the frequency of parkin mutations in patients with isolated early‐onset parkinsonism according to their age at onset, we studied 146 patients of various geographical origin with an age at onset ≤45 years. All were screened for mutations in the parkin gene using semi‐quantitative polymerase chain reaction combined with sequencing of the entire coding region. We identified parkin mutations in 20 patients including three new exon rearrangements and two new missense mutations. These results, taken in conjunction with those of our previous study (Lücking et al., 2000) show that parkin mutations account for at least 15% (38 out of 246) of our early‐onset cases without family history, but that the proportion decreases significantly with increasing age at onset. There were no clinical group differences between parkin cases and other patients with early‐onset parkinsonism. However, a single case presenting with cerebellar ataxia several years before typical parkinsonism extends the spectrum of parkin related‐disease.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>KWD</head><item><term>Keywords: parkin; mutation frequency; isolated early‐onset parkinsonism</term></item></list></keywords></textClass><textClass xml:lang="en"><keywords scheme="keyword"><list><head>ABR</head><item><term>Abbreviations: PCR = polymerase chain reaction</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2003-06">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2016-3-15">References added</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/DEB4706B4634B67E45513FF14DEA841395194611/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="corpus oup" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="US-ASCII"</istex:xmlDeclaration><istex:docType PUBLIC="-//NLM//DTD Journal Publishing DTD v2.3 20070202//EN" URI="journalpublishing.dtd" name="istex:docType"></istex:docType><istex:document><article xml:lang="en" article-type="research-article"><front><journal-meta><journal-id journal-id-type="hwp">brain</journal-id><journal-id journal-id-type="nlm-ta">Brain</journal-id><journal-id journal-id-type="publisher-id">brainj</journal-id><journal-title>Brain</journal-title><abbrev-journal-title abbrev-type="publisher">Brain</abbrev-journal-title><issn pub-type="ppub">0006-8950</issn><issn pub-type="epub">1460-2156</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="other">awg136</article-id><article-id pub-id-type="doi">10.1093/brain/awg136</article-id><title-group><article-title><italic>Parkin</italic> mutations are frequent in patients with isolated early‐onset parkinsonism</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Periquet</surname><given-names>Magali</given-names></name><xref rid="AWG136A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Latouche</surname><given-names>Morwena</given-names></name><xref rid="AWG136A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Lohmann</surname><given-names>Ebba</given-names></name><xref rid="AWG136A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Rawal</surname><given-names>Nina</given-names></name><xref rid="AWG136A1">1</xref></contrib><contrib contrib-type="author"><name><surname>De Michele</surname><given-names>Giuseppe</given-names></name><xref rid="AWG136A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Ricard</surname><given-names>Sylvain</given-names></name><xref rid="AWG136A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Teive</surname><given-names>Hélio</given-names></name><xref rid="AWG136A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Fraix</surname><given-names>Valérie</given-names></name><xref rid="AWG136A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Vidailhet</surname><given-names>Marie</given-names></name><xref rid="AWG136A1">1</xref><xref rid="AWG136A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Nicholl</surname><given-names>David</given-names></name><xref rid="AWG136A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Barone</surname><given-names>Paolo</given-names></name><xref rid="AWG136A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Wood</surname><given-names>Nick W.</given-names></name><xref rid="AWG136A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Raskin</surname><given-names>Salmo</given-names></name><xref rid="AWG136A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Deleuze</surname><given-names>Jean‐François</given-names></name><xref rid="AWG136A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Agid</surname><given-names>Yves</given-names></name><xref rid="AWG136A1">1</xref><xref rid="AWG136A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Dürr</surname><given-names>Alexandra</given-names></name><xref rid="AWG136A1">1</xref><xref rid="AWG136A2">2</xref><xref rid="AWG136A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Brice</surname><given-names>Alexis</given-names></name><xref rid="AWG136A1">1</xref><xref rid="AWG136A2">2</xref><xref rid="AWG136A3">3</xref></contrib><contrib contrib-type="group-author"><on-behalf-of> the French Parkinson’s Disease Genetics Study Group*</on-behalf-of></contrib><contrib contrib-type="group-author"><on-behalf-of> and the European Consortium on Genetic Susceptibility in Parkinson’s Disease**</on-behalf-of></contrib><aff id="AWG136A1"><label>1</label>INSERM U289,</aff><aff id="AWG136A2"><label>2</label>Département de Génétique, Cytogénétique et Embryologie and</aff><aff id="AWG136A3"><label>3</label>Fédération de Neurologie, Hôpital de la Salpêtrière and</aff><aff id="AWG136A4"><label>4</label>Service de Neurologie, Hôpital Saint Antoine, Paris,</aff><aff id="AWG136A5"><label>5</label>Service de Neurologie, CHU de Grenoble, Grenoble, and</aff><aff id="AWG136A6"><label>6</label>Biotechnology Department, Aventis Pharma, Vitry sur Seine, France,</aff><aff id="AWG136A7"><label>7</label>Dipartimento di Scienze Neurologiche, Università Federico II, Napoli, Italy,</aff><aff id="AWG136A8"><label>8</label>Departamento de Neurologia, Hospital de Clinicas and</aff><aff id="AWG136A9"><label>9</label>Laboratorio Genetika, Curitiba Parana, Brazil,</aff><aff id="AWG136A10"><label>10</label>Department of Clinical Neurology, Queen Elizabeth Hospital, Birmingham, and</aff><aff id="AWG136A11"><label>11</label>Institute of Neurology, London, UK</aff></contrib-group><author-notes><corresp id="COR1">Correspondence to: Alexis Brice, INSERM U289, Hôpital de la Salpêtrière, 47, Boulevard de l’Hôpital, 75651 Paris cedex 13, France E‐mail: <ext-link xlink:href="brice@ccr.jussieu.fr" ext-link-type="email">brice@ccr.jussieu.fr</ext-link>. * Y. Agid, A.‐M. Bonnet, M. Borg, A. Brice, E. Broussolle, Ph. Damier, A. Destée, A. Dürr, F. Durif, J. Feingold, G. Fénelon, E. Lohmann, M. Martinez, C. Penet, P. Pollak, O. Rascol, F. Tison, C. Tranchant, M. Vérin, F. Viallet, M. Vidailhet and J.‐M. Warter. ** N.W. Wood and D. Nicholl (UK); A. Brice, A. Dürr, M. Martinez and Y. Agid (France); T. Gasser and B. Müller‐Myhsok (Germany); M. Breteler, S. Harhangi and B. Oostra (The Netherlands); V. Bonifati, N. Vanacore, G. De Michele, E. Fabrizio, A. Filla and G. Meco (Italy)</corresp></author-notes><pub-date pub-type="ppub"><month>06</month><year>2003</year></pub-date><volume>126</volume><issue>6</issue><fpage>1271</fpage><lpage>1278</lpage><history><date date-type="accepted"><day>29</day><month>01</month><year>2003</year></date><date date-type="received"><day>28</day><month>08</month><year>2002</year></date><date date-type="rev-recd"><day>29</day><month>01</month><year>2003</year></date></history><copyright-year>2003</copyright-year><abstract xml:lang="en"><p><italic>Parkin</italic> gene mutations are reported to be a major cause of early‐onset parkinsonism (age at onset ≤45 years) in families with autosomal recessive inheritance and in isolated juvenile‐onset parkinsonism (age at onset <20 years). However, the precise frequency of <italic>parkin</italic> mutations in isolated cases is not known. In order to evaluate the frequency of <italic>parkin</italic> mutations in patients with isolated early‐onset parkinsonism according to their age at onset, we studied 146 patients of various geographical origin with an age at onset ≤45 years. All were screened for mutations in the <italic>parkin</italic> gene using semi‐quantitative polymerase chain reaction combined with sequencing of the entire coding region. We identified <italic>parkin</italic> mutations in 20 patients including three new exon rearrangements and two new missense mutations. These results, taken in conjunction with those of our previous study (Lücking <italic>et al.,</italic> 2000) show that <italic>parkin</italic> mutations account for at least 15% (38 out of 246) of our early‐onset cases without family history, but that the proportion decreases significantly with increasing age at onset. There were no clinical group differences between <italic>parkin</italic> cases and other patients with early‐onset parkinsonism. However, a single case presenting with cerebellar ataxia several years before typical parkinsonism extends the spectrum of <italic>parkin</italic> related‐disease.</p></abstract><kwd-group kwd-group-type="KWD" xml:lang="en"><kwd><bold>Keywords</bold>: parkin; mutation frequency; isolated early‐onset parkinsonism</kwd></kwd-group><kwd-group kwd-group-type="ABR" xml:lang="en"><kwd><bold>Abbreviations</bold>: PCR = polymerase chain reaction</kwd></kwd-group><custom-meta-wrap><custom-meta><meta-name>hwp-legacy-fpage</meta-name><meta-value>1271</meta-value></custom-meta><custom-meta><meta-name>hwp-legacy-dochead</meta-name><meta-value>Article</meta-value></custom-meta></custom-meta-wrap></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Parkin mutations are frequent in patients with isolated early‐onset parkinsonism</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>Parkin mutations are frequent in patients with isolated early‐onset parkinsonism</title></titleInfo><name type="personal"><namePart type="given">Magali</namePart><namePart type="family">Periquet</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Morwena</namePart><namePart type="family">Latouche</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ebba</namePart><namePart type="family">Lohmann</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nina</namePart><namePart type="family">Rawal</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Giuseppe</namePart><namePart type="family">De Michele</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sylvain</namePart><namePart type="family">Ricard</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hélio</namePart><namePart type="family">Teive</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Valérie</namePart><namePart type="family">Fraix</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marie</namePart><namePart type="family">Vidailhet</namePart><affiliation></affiliation><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David</namePart><namePart type="family">Nicholl</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Paolo</namePart><namePart type="family">Barone</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nick W.</namePart><namePart type="family">Wood</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Salmo</namePart><namePart type="family">Raskin</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jean‐François</namePart><namePart type="family">Deleuze</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yves</namePart><namePart type="family">Agid</namePart><affiliation></affiliation><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexandra</namePart><namePart type="family">Dürr</namePart><affiliation></affiliation><affiliation></affiliation><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexis</namePart><namePart type="family">Brice</namePart><affiliation></affiliation><affiliation></affiliation><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="research-article"></genre><originInfo><publisher>Oxford University Press</publisher><dateIssued encoding="w3cdtf">2003-06</dateIssued><copyrightDate encoding="w3cdtf">2003</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract lang="en">Parkin gene mutations are reported to be a major cause of early‐onset parkinsonism (age at onset ≤45 years) in families with autosomal recessive inheritance and in isolated juvenile‐onset parkinsonism (age at onset <20 years). However, the precise frequency of parkin mutations in isolated cases is not known. In order to evaluate the frequency of parkin mutations in patients with isolated early‐onset parkinsonism according to their age at onset, we studied 146 patients of various geographical origin with an age at onset ≤45 years. All were screened for mutations in the parkin gene using semi‐quantitative polymerase chain reaction combined with sequencing of the entire coding region. We identified parkin mutations in 20 patients including three new exon rearrangements and two new missense mutations. These results, taken in conjunction with those of our previous study (Lücking et al., 2000) show that parkin mutations account for at least 15% (38 out of 246) of our early‐onset cases without family history, but that the proportion decreases significantly with increasing age at onset. There were no clinical group differences between parkin cases and other patients with early‐onset parkinsonism. However, a single case presenting with cerebellar ataxia several years before typical parkinsonism extends the spectrum of parkin related‐disease.</abstract><note type="author-notes">Correspondence to: Alexis Brice, INSERM U289, Hôpital de la Salpêtrière, 47, Boulevard de l’Hôpital, 75651 Paris cedex 13, France E‐mail: brice@ccr.jussieu.fr. * Y. Agid, A.‐M. Bonnet, M. Borg, A. Brice, E. Broussolle, Ph. Damier, A. Destée, A. Dürr, F. Durif, J. Feingold, G. Fénelon, E. Lohmann, M. Martinez, C. Penet, P. Pollak, O. Rascol, F. Tison, C. Tranchant, M. Vérin, F. Viallet, M. Vidailhet and J.‐M. Warter. ** N.W. Wood and D. Nicholl (UK); A. Brice, A. Dürr, M. Martinez and Y. Agid (France); T. Gasser and B. Müller‐Myhsok (Germany); M. Breteler, S. Harhangi and B. Oostra (The Netherlands); V. Bonifati, N. Vanacore, G. De Michele, E. Fabrizio, A. Filla and G. Meco (Italy)</note><subject lang="en"><genre>KWD</genre><topic>Keywords: parkin; mutation frequency; isolated early‐onset parkinsonism</topic></subject><subject lang="en"><genre>ABR</genre><topic>Abbreviations: PCR = polymerase chain reaction</topic></subject><relatedItem type="host"><titleInfo><title>Brain</title></titleInfo><titleInfo type="abbreviated"><title>Brain</title></titleInfo><genre type="Journal">journal</genre><identifier type="ISSN">0006-8950</identifier><identifier type="eISSN">1460-2156</identifier><identifier type="PublisherID">brainj</identifier><identifier type="PublisherID-hwp">brain</identifier><identifier type="PublisherID-nlm-ta">Brain</identifier><part><date>2003</date><detail type="volume"><caption>vol.</caption><number>126</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>1271</start><end>1278</end></extent></part></relatedItem><identifier type="istex">DEB4706B4634B67E45513FF14DEA841395194611</identifier><identifier type="DOI">10.1093/brain/awg136</identifier><identifier type="local">awg136</identifier><recordInfo><recordContentSource>OUP</recordContentSource></recordInfo></mods></metadata><annexes><json:item><original>true</original><mimetype>image/jpeg</mimetype><extension>jpeg</extension><uri>https://api.istex.fr/document/DEB4706B4634B67E45513FF14DEA841395194611/annexes/jpeg</uri></json:item><json:item><original>true</original><mimetype>image/gif</mimetype><extension>gif</extension><uri>https://api.istex.fr/document/DEB4706B4634B67E45513FF14DEA841395194611/annexes/gif</uri></json:item></annexes><enrichments><istex:catWosTEI uri="https://api.istex.fr/document/DEB4706B4634B67E45513FF14DEA841395194611/enrichments/catWos"><teiHeader><profileDesc><textClass><classCode scheme="WOS">CLINICAL NEUROLOGY</classCode><classCode scheme="WOS">NEUROSCIENCES</classCode></textClass></profileDesc></teiHeader></istex:catWosTEI></enrichments><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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