Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients
Identifieur interne : 002F59 ( Istex/Corpus ); précédent : 002F58; suivant : 002F60Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients
Auteurs : Cindy Zadikoff ; Ekaterina Rogaeva ; Ana Djarmati ; Christine Sato ; Shabnam Salehi-Rad ; Peter St. George-Hyslop ; Christine Klein ; Anthony E. LangSource :
- Movement Disorders [ 0885-3185 ] ; 2006-06-06.
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Abstract
The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with PINK1 mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.20854
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ISTEX:924B8B9BDFE408E924AEB168303FF3B49C4EE431Le document en format XML
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Lang</name><affiliation><mods:affiliation>Movement Disorders Centre, Toronto Western Hospital, Toronto, Ontario, Canada</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with PINK1 mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care. © 2006 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Cindy Zadikoff MD, FRCPC</name><affiliations><json:string>Movement Disorders Centre, Toronto Western Hospital, Toronto, Ontario, Canada</json:string></affiliations></json:item><json:item><name>Ekaterina Rogaeva PhD</name><affiliations><json:string>Centre for Research in Neurodegenerative Disease, Toronto, Ontario, Canada</json:string></affiliations></json:item><json:item><name>Ana Djarmati MS</name><affiliations><json:string>Department of Neurology, Luebeck University, Luebeck, Germany</json:string></affiliations></json:item><json:item><name>Christine Sato BSc</name><affiliations><json:string>Centre for Research in Neurodegenerative Disease, Toronto, Ontario, Canada</json:string></affiliations></json:item><json:item><name>Shabnam Salehi‐Rad BSc</name><affiliations><json:string>Centre for Research in Neurodegenerative Disease, Toronto, Ontario, Canada</json:string></affiliations></json:item><json:item><name>Peter St. George‐Hyslop MD, FRCPC</name><affiliations><json:string>Centre for Research in Neurodegenerative Disease, Toronto, Ontario, Canada</json:string></affiliations></json:item><json:item><name>Christine Klein MD</name><affiliations><json:string>Movement Disorders Centre, Toronto Western Hospital, Toronto, Ontario, Canada</json:string><json:string>Department of Neurology, Luebeck University, Luebeck, Germany</json:string></affiliations></json:item><json:item><name>Anthony E. Lang MD, FRCPC</name><affiliations><json:string>Movement Disorders Centre, Toronto Western Hospital, Toronto, Ontario, Canada</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>PINK1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>mutation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>gene</value></json:item></subject><language><json:string>eng</json:string></language><abstract>The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. 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corresponding="yes"><personName><givenNames>Anthony E.</givenNames><familyName>Lang</familyName><degrees>MD, FRCPC</degrees></personName><contactDetails><email>lang@uhnres.utoronto.ca</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="CA" type="organization"><unparsedAffiliation>Movement Disorders Centre, Toronto Western Hospital, Toronto, Ontario, Canada</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="CA" type="organization"><unparsedAffiliation>Centre for Research in Neurodegenerative Disease, Toronto, Ontario, Canada</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, Luebeck University, Luebeck, Germany</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1"><i>PINK1</i></keyword><keyword xml:id="kwd2">Parkinson's disease</keyword><keyword xml:id="kwd3">mutation</keyword><keyword xml:id="kwd4">gene</keyword></keywordGroup><fundingInfo><fundingAgency>Canadian Institutes of Health Research</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Howard Hughes Medical Institute</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Canada Foundation for Innovation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>National Parkinson Foundation Center of Excellence Award</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Connaught Grant</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Parkinson Society of Canada, Japan–Canada</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Canadian Institutes of Health Research Joint Health Research Program</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Gottlieb Daimler and Karl Benz Foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Deutsche Forschungsgemeinschaft</fundingAgency><fundingNumber>KL‐1134/2‐4</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Volkswagen Foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>American Academy of Neurology Foundation Clinical Research Fellowship Award</fundingAgency></fundingInfo><supportingInformation><p> This article includes Supplementary Video, available online at <url href="http://www.interscience.wiley.com/jpages/0885-3185/suppmat"> http://www.interscience.wiley.com/jpages/0885‐3185/suppmat </url></p></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The first mutations described in <i>PINK1</i> were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with <i>PINK1</i> mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care. © 2006 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Clinical/Scientific Notes</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Homozygous and heterozygous</title></titleInfo><name type="personal"><namePart type="given">Cindy</namePart><namePart type="family">Zadikoff</namePart><namePart type="termsOfAddress">MD, FRCPC</namePart><affiliation>Movement Disorders Centre, Toronto Western Hospital, Toronto, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ekaterina</namePart><namePart type="family">Rogaeva</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Centre for Research in Neurodegenerative Disease, Toronto, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ana</namePart><namePart type="family">Djarmati</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Neurology, Luebeck University, Luebeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christine</namePart><namePart type="family">Sato</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Centre for Research in Neurodegenerative Disease, Toronto, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Shabnam</namePart><namePart type="family">Salehi‐Rad</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Centre for Research in Neurodegenerative Disease, Toronto, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Peter</namePart><namePart type="family">St. George‐Hyslop</namePart><namePart type="termsOfAddress">MD, FRCPC</namePart><affiliation>Centre for Research in Neurodegenerative Disease, Toronto, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christine</namePart><namePart type="family">Klein</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Movement Disorders Centre, Toronto Western Hospital, Toronto, Ontario, Canada</affiliation><affiliation>Department of Neurology, Luebeck University, Luebeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anthony E.</namePart><namePart type="family">Lang</namePart><namePart type="termsOfAddress">MD, FRCPC</namePart><affiliation>Movement Disorders Centre, Toronto Western Hospital, Toronto, Ontario, Canada</affiliation><description>Correspondence: Toronto Western Hospital, Morton and Gloria Shulman Movement Disorders Center, McL‐7, 399 Bathurst Street, Toronto, ON M5T 2S8, Canada</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">shortCommunication</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2006-06-06</dateIssued><dateCaptured encoding="w3cdtf">2005-08-04</dateCaptured><dateValid encoding="w3cdtf">2005-10-12</dateValid><copyrightDate encoding="w3cdtf">2006</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">2</extent><extent unit="references">21</extent><extent unit="words">3688</extent></physicalDescription><abstract lang="en">The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with PINK1 mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care. © 2006 Movement Disorder Society</abstract><note type="funding">Canadian Institutes of Health Research</note><note type="funding">Howard Hughes Medical Institute</note><note type="funding">Canada Foundation for Innovation</note><note type="funding">National Parkinson Foundation Center of Excellence Award</note><note type="funding">Connaught Grant</note><note type="funding">Parkinson Society of Canada, Japan–Canada</note><note type="funding">Canadian Institutes of Health Research Joint Health Research Program</note><note type="funding">Gottlieb Daimler and Karl Benz Foundation</note><note type="funding">Deutsche Forschungsgemeinschaft - No. KL‐1134/2‐4; </note><note type="funding">Volkswagen Foundation</note><note type="funding">American Academy of Neurology Foundation Clinical Research Fellowship Award</note><subject lang="en"><genre>Keywords</genre><topic>PINK1</topic><topic>Parkinson's disease</topic><topic>mutation</topic><topic>gene</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><note type="content"> This article includes Supplementary Video, available online at http://www.interscience.wiley.com/jpages/0885‐3185/suppmat</note><subject><genre>article category</genre><topic>Clinical/Scientific Note</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2006</date><detail type="volume"><caption>vol.</caption><number>21</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>875</start><end>879</end><total>5</total></extent></part></relatedItem><identifier type="istex">924B8B9BDFE408E924AEB168303FF3B49C4EE431</identifier><identifier type="DOI">10.1002/mds.20854</identifier><identifier type="ArticleID">MDS20854</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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