Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations
Identifieur interne : 002290 ( Main/Corpus ); précédent : 002289; suivant : 002291Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations
Auteurs : Joseph Wiley ; Timothy Lynch ; Sarah Lincoln ; Lisa Skipper ; Mary Hulihan ; David Gosal ; Gina Bisceglio ; Jennifer Kachergus ; John Hardy ; Matthew J. FarrerSource :
- Movement Disorders [ 0885-3185 ] ; 2004-06.
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- KwdEn :
Abstract
Early‐onset autosomal recessive parkinsonism is associated with parkin gene mutations. Different parkin mutations occur in many ethnic backgrounds; however, the phenotype may vary. We studied 102 young‐onset (age at onset <60 years) Parkinson's disease (PD) patients. From 102 patients, 40 with early‐onset PD (<45 years at symptomatic onset) were selected for clinical assessment and parkin gene molecular analysis for duplications/deletions and point mutations. We identified parkin mutations in 7 of 40 early‐onset patients; including novel compound heterozygotes and potential splice site changes. The mean age at onset in the 7 parkin mutation‐positive patients was 33 ± 9 years (age range, 18–42 years), marginally lower than that of the 33 parkin‐negative early‐onset patients, 38 ± 7 years (age range, 17–45 years). A family history of PD was present in 4 of 7 patients with parkin mutations, compared with 6 of 33 early‐onset parkin‐negative patients. Overall, parkin mutations were found in 4 of 10 patients with a positive family history and 3 of 30 patients without a family history of PD. Patients with parkin mutations had more dystonia, dyskinesia, and sleep benefit compared with parkin‐negative patients. We subsequently identified a single point mutation among the 62 young‐onset (age at onset 45 to <60 years). Mutations in the parkin gene may account for ∼17% of early‐onset (age at onset <45 years) parkinsonism in Ireland, in agreement with previous European studies. © 2003 Movement Disorder Society
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DOI: 10.1002/mds.10703
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Different parkin mutations occur in many ethnic backgrounds; however, the phenotype may vary. We studied 102 young‐onset (age at onset <60 years) Parkinson's disease (PD) patients. From 102 patients, 40 with early‐onset PD (<45 years at symptomatic onset) were selected for clinical assessment and parkin gene molecular analysis for duplications/deletions and point mutations. We identified parkin mutations in 7 of 40 early‐onset patients; including novel compound heterozygotes and potential splice site changes. The mean age at onset in the 7 parkin mutation‐positive patients was 33 ± 9 years (age range, 18–42 years), marginally lower than that of the 33 parkin‐negative early‐onset patients, 38 ± 7 years (age range, 17–45 years). A family history of PD was present in 4 of 7 patients with parkin mutations, compared with 6 of 33 early‐onset parkin‐negative patients. Overall, parkin mutations were found in 4 of 10 patients with a positive family history and 3 of 30 patients without a family history of PD. Patients with parkin mutations had more dystonia, dyskinesia, and sleep benefit compared with parkin‐negative patients. We subsequently identified a single point mutation among the 62 young‐onset (age at onset 45 to <60 years). Mutations in the parkin gene may account for ∼17% of early‐onset (age at onset <45 years) parkinsonism in Ireland, in agreement with previous European studies. © 2003 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Joseph Wiley MB, MRCPI</name><affiliations><json:string>Department of Neurology, Mater Misericordiae Hospital and University College Dublin Conway Neuroscience Investigator, Dublin, Ireland</json:string></affiliations></json:item><json:item><name>Timothy Lynch BSc, MB, FRCPI</name><affiliations><json:string>Department of Neurology, Mater Misericordiae Hospital and University College Dublin Conway Neuroscience Investigator, Dublin, Ireland</json:string></affiliations></json:item><json:item><name>Sarah Lincoln BSc</name><affiliations><json:string>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Lisa Skipper MSc</name><affiliations><json:string>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Mary Hulihan BSc</name><affiliations><json:string>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>David Gosal MB, MRCPI</name><affiliations><json:string>Department of Neurology, Mater Misericordiae Hospital and University College Dublin Conway Neuroscience Investigator, Dublin, Ireland</json:string></affiliations></json:item><json:item><name>Gina Bisceglio</name><affiliations><json:string>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Jennifer Kachergus BSc</name><affiliations><json:string>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>John Hardy PhD</name><affiliations><json:string>Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA</json:string></affiliations></json:item><json:item><name>Matthew J. Farrer PhD</name><affiliations><json:string>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>parkin</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetics</value></json:item></subject><articleId><json:string>MDS10703</json:string></articleId><language><json:string>eng</json:string></language><abstract>Early‐onset autosomal recessive parkinsonism is associated with parkin gene mutations. Different parkin mutations occur in many ethnic backgrounds; however, the phenotype may vary. We studied 102 young‐onset (age at onset >60 years) Parkinson's disease (PD) patients. From 102 patients, 40 with early‐onset PD (>45 years at symptomatic onset) were selected for clinical assessment and parkin gene molecular analysis for duplications/deletions and point mutations. We identified parkin mutations in 7 of 40 early‐onset patients; including novel compound heterozygotes and potential splice site changes. The mean age at onset in the 7 parkin mutation‐positive patients was 33 ± 9 years (age range, 18–42 years), marginally lower than that of the 33 parkin‐negative early‐onset patients, 38 ± 7 years (age range, 17–45 years). A family history of PD was present in 4 of 7 patients with parkin mutations, compared with 6 of 33 early‐onset parkin‐negative patients. Overall, parkin mutations were found in 4 of 10 patients with a positive family history and 3 of 30 patients without a family history of PD. Patients with parkin mutations had more dystonia, dyskinesia, and sleep benefit compared with parkin‐negative patients. We subsequently identified a single point mutation among the 62 young‐onset (age at onset 45 to >60 years). Mutations in the parkin gene may account for ∼17% of early‐onset (age at onset >45 years) parkinsonism in Ireland, in agreement with previous European studies. © 2003 Movement Disorder Society</abstract><qualityIndicators><score>5.927</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>3</keywordCount><abstractCharCount>1522</abstractCharCount><pdfWordCount>3143</pdfWordCount><pdfCharCount>20785</pdfCharCount><pdfPageCount>5</pdfPageCount><abstractWordCount>232</abstractWordCount></qualityIndicators><title>Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations</title><genre><json:string>article</json:string></genre><host><volume>19</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>5</total><last>681</last><first>677</first></pages><issn><json:string>0885-3185</json:string></issn><issue>6</issue><subject><json:item><value>Brief Report</value></json:item></subject><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1531-8257</json:string></eissn><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2004</publicationDate><copyrightDate>2004</copyrightDate><doi><json:string>10.1002/mds.10703</json:string></doi><id>8AF8BFE17C24CD4F5EEB77ECFACB9104019730EF</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/8AF8BFE17C24CD4F5EEB77ECFACB9104019730EF/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/8AF8BFE17C24CD4F5EEB77ECFACB9104019730EF/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/8AF8BFE17C24CD4F5EEB77ECFACB9104019730EF/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2004</date></publicationStmt><notesStmt><note>NINDS (Morris K. Udall award)</note><note>Mayo Foundation</note><note>Irish Institute of Neurology and Neurosurgery</note><note>PRTLI Conway Neuroscience</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations</title><author><persName><forename type="first">Joseph</forename><surname>Wiley</surname></persName><roleName type="degree">MB, MRCPI</roleName><affiliation>Department of Neurology, Mater Misericordiae Hospital and University College Dublin Conway Neuroscience Investigator, Dublin, Ireland</affiliation></author><author><persName><forename type="first">Timothy</forename><surname>Lynch</surname></persName><roleName type="degree">BSc, MB, FRCPI</roleName><note type="correspondence"><p>Correspondence: Consultant Neurologist and Clinical Investigator Conway Institute of Biomolecular and Biomedical Research, Department of Neurology, Mater Misericordiae Hospital, Eccles St., Dublin 7, Ireland</p></note><affiliation>Department of Neurology, Mater Misericordiae Hospital and University College Dublin Conway Neuroscience Investigator, Dublin, Ireland</affiliation></author><author><persName><forename type="first">Sarah</forename><surname>Lincoln</surname></persName><roleName type="degree">BSc</roleName><affiliation>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Lisa</forename><surname>Skipper</surname></persName><roleName type="degree">MSc</roleName><affiliation>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Mary</forename><surname>Hulihan</surname></persName><roleName type="degree">BSc</roleName><affiliation>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">David</forename><surname>Gosal</surname></persName><roleName type="degree">MB, MRCPI</roleName><affiliation>Department of Neurology, Mater Misericordiae Hospital and University College Dublin Conway Neuroscience Investigator, Dublin, Ireland</affiliation></author><author><persName><forename type="first">Gina</forename><surname>Bisceglio</surname></persName><affiliation>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Jennifer</forename><surname>Kachergus</surname></persName><roleName type="degree">BSc</roleName><affiliation>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">John</forename><surname>Hardy</surname></persName><roleName type="degree">PhD</roleName><affiliation>Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA</affiliation></author><author><persName><forename type="first">Matthew J.</forename><surname>Farrer</surname></persName><roleName type="degree">PhD</roleName><affiliation>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. 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We studied 102 young‐onset (age at onset <60 years) Parkinson's disease (PD) patients. From 102 patients, 40 with early‐onset PD (<45 years at symptomatic onset) were selected for clinical assessment and parkin gene molecular analysis for duplications/deletions and point mutations. We identified parkin mutations in 7 of 40 early‐onset patients; including novel compound heterozygotes and potential splice site changes. The mean age at onset in the 7 parkin mutation‐positive patients was 33 ± 9 years (age range, 18–42 years), marginally lower than that of the 33 parkin‐negative early‐onset patients, 38 ± 7 years (age range, 17–45 years). A family history of PD was present in 4 of 7 patients with parkin mutations, compared with 6 of 33 early‐onset parkin‐negative patients. Overall, parkin mutations were found in 4 of 10 patients with a positive family history and 3 of 30 patients without a family history of PD. Patients with parkin mutations had more dystonia, dyskinesia, and sleep benefit compared with parkin‐negative patients. We subsequently identified a single point mutation among the 62 young‐onset (age at onset 45 to <60 years). Mutations in the parkin gene may account for ∼17% of early‐onset (age at onset <45 years) parkinsonism in Ireland, in agreement with previous European studies. © 2003 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>parkin</term></item><item><term>Parkinson's disease</term></item><item><term>genetics</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Brief Report</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2002-08-14">Received</change><change when="2003-10-10">Registration</change><change when="2004-06">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/8AF8BFE17C24CD4F5EEB77ECFACB9104019730EF/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. 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href="file:MDS.MDS10703.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="23"></count><count type="wordTotal" number="3213"></count></countGroup><titleGroup><title type="main" xml:lang="en">Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations</title><title type="short" xml:lang="en">Parkin Mutations in Ireland</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Joseph</givenNames><familyName>Wiley</familyName><degrees>MB, MRCPI</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Timothy</givenNames><familyName>Lynch</familyName><degrees>BSc, MB, FRCPI</degrees></personName><contactDetails><email>tlynch@materprivate.ie</email></contactDetails></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Sarah</givenNames><familyName>Lincoln</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Lisa</givenNames><familyName>Skipper</familyName><degrees>MSc</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Mary</givenNames><familyName>Hulihan</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>David</givenNames><familyName>Gosal</familyName><degrees>MB, MRCPI</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Gina</givenNames><familyName>Bisceglio</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Jennifer</givenNames><familyName>Kachergus</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af3"><personName><givenNames>John</givenNames><familyName>Hardy</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Matthew J.</givenNames><familyName>Farrer</familyName><degrees>PhD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="IE" type="organization"><unparsedAffiliation>Department of Neurology, Mater Misericordiae Hospital and University College Dublin Conway Neuroscience Investigator, Dublin, Ireland</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">parkin</keyword><keyword xml:id="kwd2">Parkinson's disease</keyword><keyword xml:id="kwd3">genetics</keyword></keywordGroup><fundingInfo><fundingAgency>NINDS (Morris K. Udall award)</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Mayo Foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Irish Institute of Neurology and Neurosurgery</fundingAgency></fundingInfo><fundingInfo><fundingAgency>PRTLI Conway Neuroscience</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Early‐onset autosomal recessive parkinsonism is associated with parkin gene mutations. Different parkin mutations occur in many ethnic backgrounds; however, the phenotype may vary. We studied 102 young‐onset (age at onset <60 years) Parkinson's disease (PD) patients. From 102 patients, 40 with early‐onset PD (<45 years at symptomatic onset) were selected for clinical assessment and parkin gene molecular analysis for duplications/deletions and point mutations. We identified parkin mutations in 7 of 40 early‐onset patients; including novel compound heterozygotes and potential splice site changes. The mean age at onset in the 7 parkin mutation‐positive patients was 33 ± 9 years (age range, 18–42 years), marginally lower than that of the 33 parkin‐negative early‐onset patients, 38 ± 7 years (age range, 17–45 years). A family history of PD was present in 4 of 7 patients with parkin mutations, compared with 6 of 33 early‐onset parkin‐negative patients. Overall, parkin mutations were found in 4 of 10 patients with a positive family history and 3 of 30 patients without a family history of PD. Patients with parkin mutations had more dystonia, dyskinesia, and sleep benefit compared with parkin‐negative patients. We subsequently identified a single point mutation among the 62 young‐onset (age at onset 45 to <60 years). Mutations in the parkin gene may account for ∼17% of early‐onset (age at onset <45 years) parkinsonism in Ireland, in agreement with previous European studies. © 2003 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Parkin Mutations in Ireland</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations</title></titleInfo><name type="personal"><namePart type="given">Joseph</namePart><namePart type="family">Wiley</namePart><namePart type="termsOfAddress">MB, MRCPI</namePart><affiliation>Department of Neurology, Mater Misericordiae Hospital and University College Dublin Conway Neuroscience Investigator, Dublin, Ireland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Timothy</namePart><namePart type="family">Lynch</namePart><namePart type="termsOfAddress">BSc, MB, FRCPI</namePart><affiliation>Department of Neurology, Mater Misericordiae Hospital and University College Dublin Conway Neuroscience Investigator, Dublin, Ireland</affiliation><description>Correspondence: Consultant Neurologist and Clinical Investigator Conway Institute of Biomolecular and Biomedical Research, Department of Neurology, Mater Misericordiae Hospital, Eccles St., Dublin 7, Ireland</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sarah</namePart><namePart type="family">Lincoln</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lisa</namePart><namePart type="family">Skipper</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mary</namePart><namePart type="family">Hulihan</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David</namePart><namePart type="family">Gosal</namePart><namePart type="termsOfAddress">MB, MRCPI</namePart><affiliation>Department of Neurology, Mater Misericordiae Hospital and University College Dublin Conway Neuroscience Investigator, Dublin, Ireland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gina</namePart><namePart type="family">Bisceglio</namePart><affiliation>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jennifer</namePart><namePart type="family">Kachergus</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John</namePart><namePart type="family">Hardy</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Matthew J.</namePart><namePart type="family">Farrer</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Mayo Clinic, Department of Neuroscience, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2004-06</dateIssued><dateCaptured encoding="w3cdtf">2002-08-14</dateCaptured><dateValid encoding="w3cdtf">2003-10-10</dateValid><copyrightDate encoding="w3cdtf">2004</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">2</extent><extent unit="references">23</extent><extent unit="words">3213</extent></physicalDescription><abstract lang="en">Early‐onset autosomal recessive parkinsonism is associated with parkin gene mutations. Different parkin mutations occur in many ethnic backgrounds; however, the phenotype may vary. We studied 102 young‐onset (age at onset <60 years) Parkinson's disease (PD) patients. From 102 patients, 40 with early‐onset PD (<45 years at symptomatic onset) were selected for clinical assessment and parkin gene molecular analysis for duplications/deletions and point mutations. We identified parkin mutations in 7 of 40 early‐onset patients; including novel compound heterozygotes and potential splice site changes. The mean age at onset in the 7 parkin mutation‐positive patients was 33 ± 9 years (age range, 18–42 years), marginally lower than that of the 33 parkin‐negative early‐onset patients, 38 ± 7 years (age range, 17–45 years). A family history of PD was present in 4 of 7 patients with parkin mutations, compared with 6 of 33 early‐onset parkin‐negative patients. Overall, parkin mutations were found in 4 of 10 patients with a positive family history and 3 of 30 patients without a family history of PD. Patients with parkin mutations had more dystonia, dyskinesia, and sleep benefit compared with parkin‐negative patients. We subsequently identified a single point mutation among the 62 young‐onset (age at onset 45 to <60 years). Mutations in the parkin gene may account for ∼17% of early‐onset (age at onset <45 years) parkinsonism in Ireland, in agreement with previous European studies. © 2003 Movement Disorder Society</abstract><note type="funding">NINDS (Morris K. Udall award)</note><note type="funding">Mayo Foundation</note><note type="funding">Irish Institute of Neurology and Neurosurgery</note><note type="funding">PRTLI Conway Neuroscience</note><subject lang="en"><genre>Keywords</genre><topic>parkin</topic><topic>Parkinson's disease</topic><topic>genetics</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Brief Report</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2004</date><detail type="volume"><caption>vol.</caption><number>19</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>677</start><end>681</end><total>5</total></extent></part></relatedItem><identifier type="istex">8AF8BFE17C24CD4F5EEB77ECFACB9104019730EF</identifier><identifier type="DOI">10.1002/mds.10703</identifier><identifier type="ArticleID">MDS10703</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2003 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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