Complex relationship between Parkin mutations and Parkinson disease
Identifieur interne : 000A62 ( Main/Corpus ); précédent : 000A61; suivant : 000A63Complex relationship between Parkin mutations and Parkinson disease
Auteurs : Andrew West ; Magali Periquet ; Sarah Lincoln ; Christoph B. Lücking ; David Nicholl ; Vincenzo Bonifati ; Nina Rawal ; Thomas Gasser ; Ebba Lohmann ; Jean-François Deleuze ; Demetrius Maraganore ; Allan Levey ; Nick Wood ; Alexandra Dürr ; John Hardy ; Alexis Brice ; Matt FarrerSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 2002-07-08.
English descriptors
Abstract
Mutations in the Parkin gene cause juvenile and early onset Parkinsonism. While Parkin‐related disease is presumed to be an autosomal‐recessive disorder, cases have been reported where only a single Parkin allele is mutated and raise the possibility of a dominant effect. In this report, we re‐evaluate twenty heterozygous cases and extend the mutation screening to include the promoter and intron/exon boundaries. Novel deletion, point and intronic splice site mutations are described, along with promoter variation. These data, coupled with a complete review of published Parkin mutations, confirms that not only is recessive loss of Parkin a risk factor for juvenile and early onset Parkinsonism but that Parkin haploinsufficiency may be sufficient for disease in some cases. © 2002 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.10525
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ISTEX:41A276DAABBE4DD81BE39C636A9BCB4A47201263Le document en format XML
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J. Med. Genet.</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="2002-07-08">2002-07-08</date><biblScope unit="volume">114</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="584">584</biblScope><biblScope unit="page" to="591">591</biblScope></imprint><idno type="ISSN">0148-7299</idno></series><idno type="istex">41A276DAABBE4DD81BE39C636A9BCB4A47201263</idno><idno type="DOI">10.1002/ajmg.10525</idno><idno type="ArticleID">AJMG10525</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Parkin</term><term>Parkinson disease</term><term>haploinsufficiency</term><term>neurodegeneration</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the Parkin gene cause juvenile and early onset Parkinsonism. While Parkin‐related disease is presumed to be an autosomal‐recessive disorder, cases have been reported where only a single Parkin allele is mutated and raise the possibility of a dominant effect. In this report, we re‐evaluate twenty heterozygous cases and extend the mutation screening to include the promoter and intron/exon boundaries. Novel deletion, point and intronic splice site mutations are described, along with promoter variation. These data, coupled with a complete review of published Parkin mutations, confirms that not only is recessive loss of Parkin a risk factor for juvenile and early onset Parkinsonism but that Parkin haploinsufficiency may be sufficient for disease in some cases. © 2002 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Andrew West</name><affiliations><json:string>Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</json:string></affiliations></json:item><json:item><name>Magali Periquet</name><affiliations><json:string>INSERM U289, Consultation de Génétique Médicale and Fédération de Neurologie, Hoôpital de la Salpêtrière, Paris, France</json:string></affiliations></json:item><json:item><name>Sarah Lincoln</name><affiliations><json:string>Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</json:string></affiliations></json:item><json:item><name>Christoph B. Lücking</name><affiliations><json:string>INSERM U289, Consultation de Génétique Médicale and Fédération de Neurologie, Hoôpital de la Salpêtrière, Paris, France</json:string><json:string>Neurologische Klinik der Ludwig‐Maximilians‐Universität, Munich, Germany</json:string></affiliations></json:item><json:item><name>David Nicholl</name><affiliations><json:string>Departement of Neurology, Queen Elizabeth Hospital, Birmingham, UK</json:string></affiliations></json:item><json:item><name>Vincenzo Bonifati</name><affiliations><json:string>Dipartimento di Scienze Neurologiche, Università “La Sapienza,” Rome</json:string></affiliations></json:item><json:item><name>Nina Rawal</name><affiliations><json:string>INSERM U289, Consultation de Génétique Médicale and Fédération de Neurologie, Hoôpital de la Salpêtrière, Paris, France</json:string></affiliations></json:item><json:item><name>Thomas Gasser</name><affiliations><json:string>Neurologische Klinik der Ludwig‐Maximilians‐Universität, Munich, Germany</json:string></affiliations></json:item><json:item><name>Ebba Lohmann</name><affiliations><json:string>INSERM U289, Consultation de Génétique Médicale and Fédération de Neurologie, Hoôpital de la Salpêtrière, Paris, France</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>Demetrius Maraganore</name><affiliations><json:string>Department of Neurology, Mayo Clinic and Mayo Foundation, Rochester, Minnesota</json:string></affiliations></json:item><json:item><name>Allan Levey</name><affiliations><json:string>Department of Neurology, Emory University, Atlanta, Georgia</json:string></affiliations></json:item><json:item><name>Nick Wood</name><affiliations><json:string>Department of Clinical Neurology, Institute of Neurology, London, UK</json:string></affiliations></json:item><json:item><name>Alexandra Dürr</name><affiliations><json:string>INSERM U289, Consultation de Génétique Médicale and Fédération de Neurologie, Hoôpital de la Salpêtrière, Paris, France</json:string></affiliations></json:item><json:item><name>John Hardy</name><affiliations><json:string>Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</json:string></affiliations></json:item><json:item><name>Alexis Brice</name><affiliations><json:string>INSERM U289, Consultation de Génétique Médicale and Fédération de Neurologie, Hoôpital de la Salpêtrière, Paris, France</json:string></affiliations></json:item><json:item><name>Matt Farrer</name><affiliations><json:string>Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkinson disease</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>neurodegeneration</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>haploinsufficiency</value></json:item></subject><articleId><json:string>AJMG10525</json:string></articleId><language><json:string>eng</json:string></language><abstract>Mutations in the Parkin gene cause juvenile and early onset Parkinsonism. While Parkin‐related disease is presumed to be an autosomal‐recessive disorder, cases have been reported where only a single Parkin allele is mutated and raise the possibility of a dominant effect. In this report, we re‐evaluate twenty heterozygous cases and extend the mutation screening to include the promoter and intron/exon boundaries. Novel deletion, point and intronic splice site mutations are described, along with promoter variation. These data, coupled with a complete review of published Parkin mutations, confirms that not only is recessive loss of Parkin a risk factor for juvenile and early onset Parkinsonism but that Parkin haploinsufficiency may be sufficient for disease in some cases. © 2002 Wiley‐Liss, Inc.</abstract><qualityIndicators><score>5.749</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>4</keywordCount><abstractCharCount>802</abstractCharCount><pdfWordCount>4309</pdfWordCount><pdfCharCount>29361</pdfCharCount><pdfPageCount>8</pdfPageCount><abstractWordCount>120</abstractWordCount></qualityIndicators><title>Complex relationship between Parkin mutations and Parkinson 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disease</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><availability><p>WILEY</p></availability><date>2002</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Complex relationship between Parkin mutations and Parkinson disease</title><author><persName><forename type="first">Andrew</forename><surname>West</surname></persName><affiliation>Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</affiliation></author><author><persName><forename type="first">Magali</forename><surname>Periquet</surname></persName><affiliation>INSERM U289, Consultation de Génétique Médicale and Fédération de Neurologie, Hoôpital de la Salpêtrière, Paris, France</affiliation></author><author><persName><forename type="first">Sarah</forename><surname>Lincoln</surname></persName><affiliation>Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</affiliation></author><author><persName><forename type="first">Christoph B.</forename><surname>Lücking</surname></persName><affiliation>INSERM U289, Consultation de Génétique Médicale and Fédération de Neurologie, Hoôpital de la Salpêtrière, Paris, France</affiliation><affiliation>Neurologische Klinik der Ludwig‐Maximilians‐Universität, Munich, Germany</affiliation></author><author><persName><forename type="first">David</forename><surname>Nicholl</surname></persName><affiliation>Departement of Neurology, Queen Elizabeth Hospital, Birmingham, UK</affiliation></author><author><persName><forename type="first">Vincenzo</forename><surname>Bonifati</surname></persName><affiliation>Dipartimento di Scienze Neurologiche, Università “La Sapienza,” Rome</affiliation></author><author><persName><forename type="first">Nina</forename><surname>Rawal</surname></persName><affiliation>INSERM U289, Consultation de Génétique Médicale and Fédération de Neurologie, Hoôpital de la Salpêtrière, Paris, France</affiliation></author><author><persName><forename type="first">Thomas</forename><surname>Gasser</surname></persName><affiliation>Neurologische Klinik der Ludwig‐Maximilians‐Universität, Munich, Germany</affiliation></author><author><persName><forename type="first">Ebba</forename><surname>Lohmann</surname></persName><affiliation>INSERM U289, Consultation de Génétique Médicale and Fédération de Neurologie, Hoôpital de la Salpêtrière, Paris, France</affiliation></author><author><persName><forename type="first">Jean‐François</forename><surname>Deleuze</surname></persName><affiliation>Biotechnology Department, Aventis Pharma, Vitry sur Seine, France</affiliation></author><author><persName><forename type="first">Demetrius</forename><surname>Maraganore</surname></persName><affiliation>Department of Neurology, Mayo Clinic and Mayo Foundation, Rochester, Minnesota</affiliation></author><author><persName><forename type="first">Allan</forename><surname>Levey</surname></persName><affiliation>Department of Neurology, Emory University, Atlanta, Georgia</affiliation></author><author><persName><forename type="first">Nick</forename><surname>Wood</surname></persName><affiliation>Department of Clinical Neurology, Institute of Neurology, London, UK</affiliation></author><author><persName><forename type="first">Alexandra</forename><surname>Dürr</surname></persName><affiliation>INSERM U289, Consultation de Génétique Médicale and Fédération de Neurologie, Hoôpital de la Salpêtrière, Paris, France</affiliation></author><author><persName><forename type="first">John</forename><surname>Hardy</surname></persName><affiliation>Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</affiliation></author><author><persName><forename type="first">Alexis</forename><surname>Brice</surname></persName><affiliation>INSERM U289, Consultation de Génétique Médicale and Fédération de Neurologie, Hoôpital de la Salpêtrière, Paris, France</affiliation></author><author><persName><forename type="first">Matt</forename><surname>Farrer</surname></persName><note type="correspondence"><p>Correspondence: Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224.</p></note><affiliation>Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</affiliation></author></analytic><monogr><title level="j">American Journal of Medical Genetics</title><title level="j" type="abbrev">Am. J. Med. Genet.</title><idno type="pISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><idno type="DOI">10.1002/(ISSN)1096-8628</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="2002-07-08"></date><biblScope unit="volume">114</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="584">584</biblScope><biblScope unit="page" to="591">591</biblScope></imprint></monogr><idno type="istex">41A276DAABBE4DD81BE39C636A9BCB4A47201263</idno><idno type="DOI">10.1002/ajmg.10525</idno><idno type="ArticleID">AJMG10525</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2002</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Mutations in the Parkin gene cause juvenile and early onset Parkinsonism. While Parkin‐related disease is presumed to be an autosomal‐recessive disorder, cases have been reported where only a single Parkin allele is mutated and raise the possibility of a dominant effect. In this report, we re‐evaluate twenty heterozygous cases and extend the mutation screening to include the promoter and intron/exon boundaries. Novel deletion, point and intronic splice site mutations are described, along with promoter variation. These data, coupled with a complete review of published Parkin mutations, confirms that not only is recessive loss of Parkin a risk factor for juvenile and early onset Parkinsonism but that Parkin haploinsufficiency may be sufficient for disease in some cases. © 2002 Wiley‐Liss, Inc.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson disease</term></item><item><term>Parkin</term></item><item><term>neurodegeneration</term></item><item><term>haploinsufficiency</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Rapid Publication</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2002-01-30">Received</change><change when="2002-03-20">Registration</change><change when="2002-07-08">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/41A276DAABBE4DD81BE39C636A9BCB4A47201263/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>New York</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1096-8628</doi><issn type="print">0148-7299</issn><issn type="electronic">1096-8628</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS">American Journal of Medical Genetics</title><title type="short">Am. 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Inc.</copyright><eventGroup><event type="manuscriptReceived" date="2002-01-30"></event><event type="manuscriptAccepted" date="2002-03-20"></event><event type="publishedOnlineEarlyUnpaginated" date="2002-05-10"></event><event type="firstOnline" date="2002-05-10"></event><event type="publishedOnlineFinalForm" date="2002-10-23"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.6 mode:FullText source:FullText result:FullText" date="2010-05-12"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-02"></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">584</numbering><numbering type="pageLast">591</numbering></numberingGroup><correspondenceTo>Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224.</correspondenceTo><objectNameGroup><objectName elementName="appendix">APPENDIX</objectName></objectNameGroup><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMG10525.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="7"></count><count type="referenceTotal" number="35"></count><count type="wordTotal" number="6356"></count></countGroup><titleGroup><title type="main" xml:lang="en">Complex relationship between Parkin mutations and Parkinson disease</title><title type="short" xml:lang="en">Parkin Mutations and Parkinsonism</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Andrew</givenNames><familyName>West</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Magali</givenNames><familyName>Periquet</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Sarah</givenNames><familyName>Lincoln</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af2 #af3"><personName><givenNames>Christoph B.</givenNames><familyName>Lücking</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>David</givenNames><familyName>Nicholl</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Vincenzo</givenNames><familyName>Bonifati</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Nina</givenNames><familyName>Rawal</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Thomas</givenNames><familyName>Gasser</familyName></personName></creator><creator xml:id="au9" 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Minnesota</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Emory University, Atlanta, Georgia</unparsedAffiliation></affiliation><affiliation xml:id="af9" countryCode="GB" type="organization"><unparsedAffiliation>Department of Clinical Neurology, Institute of Neurology, London, UK</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson disease</keyword><keyword xml:id="kwd2">Parkin</keyword><keyword xml:id="kwd3">neurodegeneration</keyword><keyword xml:id="kwd4">haploinsufficiency</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Mutations in the Parkin gene cause juvenile and early onset Parkinsonism. While Parkin‐related disease is presumed to be an autosomal‐recessive disorder, cases have been reported where only a single Parkin allele is mutated and raise the possibility of a dominant effect. In this report, we re‐evaluate twenty heterozygous cases and extend the mutation screening to include the promoter and intron/exon boundaries. Novel deletion, point and intronic splice site mutations are described, along with promoter variation. These data, coupled with a complete review of published Parkin mutations, confirms that not only is recessive loss of Parkin a risk factor for juvenile and early onset Parkinsonism but that Parkin haploinsufficiency may be sufficient for disease in some cases. © 2002 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Complex relationship between Parkin mutations and Parkinson disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Parkin Mutations and Parkinsonism</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Complex relationship between Parkin mutations and Parkinson disease</title></titleInfo><name type="personal"><namePart type="given">Andrew</namePart><namePart type="family">West</namePart><affiliation>Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Magali</namePart><namePart type="family">Periquet</namePart><affiliation>INSERM U289, Consultation de Génétique Médicale and Fédération de Neurologie, Hoôpital de la Salpêtrière, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sarah</namePart><namePart type="family">Lincoln</namePart><affiliation>Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christoph B.</namePart><namePart type="family">Lücking</namePart><affiliation>INSERM U289, Consultation de Génétique Médicale and Fédération de Neurologie, Hoôpital de la Salpêtrière, Paris, France</affiliation><affiliation>Neurologische Klinik der Ludwig‐Maximilians‐Universität, Munich, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David</namePart><namePart type="family">Nicholl</namePart><affiliation>Departement of Neurology, Queen Elizabeth Hospital, Birmingham, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vincenzo</namePart><namePart type="family">Bonifati</namePart><affiliation>Dipartimento di Scienze Neurologiche, Università “La Sapienza,” Rome</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nina</namePart><namePart type="family">Rawal</namePart><affiliation>INSERM U289, Consultation de Génétique Médicale and Fédération de Neurologie, Hoôpital de la Salpêtrière, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Thomas</namePart><namePart type="family">Gasser</namePart><affiliation>Neurologische Klinik der Ludwig‐Maximilians‐Universität, Munich, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ebba</namePart><namePart type="family">Lohmann</namePart><affiliation>INSERM U289, Consultation de Génétique Médicale and Fédération de Neurologie, Hoôpital de la Salpêtrière, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jean‐François</namePart><namePart type="family">Deleuze</namePart><affiliation>Biotechnology Department, Aventis Pharma, Vitry sur Seine, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Demetrius</namePart><namePart type="family">Maraganore</namePart><affiliation>Department of Neurology, Mayo Clinic and Mayo Foundation, Rochester, Minnesota</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Allan</namePart><namePart type="family">Levey</namePart><affiliation>Department of Neurology, Emory University, Atlanta, Georgia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nick</namePart><namePart type="family">Wood</namePart><affiliation>Department of Clinical Neurology, Institute of Neurology, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexandra</namePart><namePart type="family">Dürr</namePart><affiliation>INSERM U289, Consultation de Génétique Médicale and Fédération de Neurologie, Hoôpital de la Salpêtrière, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John</namePart><namePart type="family">Hardy</namePart><affiliation>Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexis</namePart><namePart type="family">Brice</namePart><affiliation>INSERM U289, Consultation de Génétique Médicale and Fédération de Neurologie, Hoôpital de la Salpêtrière, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Matt</namePart><namePart type="family">Farrer</namePart><affiliation>Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</affiliation><description>Correspondence: Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224.</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">New York</placeTerm></place><dateIssued encoding="w3cdtf">2002-07-08</dateIssued><dateCaptured encoding="w3cdtf">2002-01-30</dateCaptured><dateValid encoding="w3cdtf">2002-03-20</dateValid><copyrightDate encoding="w3cdtf">2002</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">7</extent><extent unit="references">35</extent><extent unit="words">6356</extent></physicalDescription><abstract lang="en">Mutations in the Parkin gene cause juvenile and early onset Parkinsonism. While Parkin‐related disease is presumed to be an autosomal‐recessive disorder, cases have been reported where only a single Parkin allele is mutated and raise the possibility of a dominant effect. In this report, we re‐evaluate twenty heterozygous cases and extend the mutation screening to include the promoter and intron/exon boundaries. Novel deletion, point and intronic splice site mutations are described, along with promoter variation. These data, coupled with a complete review of published Parkin mutations, confirms that not only is recessive loss of Parkin a risk factor for juvenile and early onset Parkinsonism but that Parkin haploinsufficiency may be sufficient for disease in some cases. © 2002 Wiley‐Liss, Inc.</abstract><subject lang="en"><genre>Keywords</genre><topic>Parkinson disease</topic><topic>Parkin</topic><topic>neurodegeneration</topic><topic>haploinsufficiency</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Rapid Publication</topic></subject><identifier type="ISSN">0148-7299</identifier><identifier type="eISSN">1096-8628</identifier><identifier type="DOI">10.1002/(ISSN)1096-8628</identifier><identifier type="PublisherID">AJMG</identifier><part><date>2002</date><detail type="volume"><caption>vol.</caption><number>114</number></detail><detail type="issue"><caption>no.</caption><number>5</number></detail><extent unit="pages"><start>584</start><end>591</end><total>8</total></extent></part></relatedItem><identifier type="istex">41A276DAABBE4DD81BE39C636A9BCB4A47201263</identifier><identifier type="DOI">10.1002/ajmg.10525</identifier><identifier type="ArticleID">AJMG10525</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2002 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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