Large French‐Canadian family with Lewy body parkinsonism: Exclusion of known loci
Identifieur interne : 000736 ( Istex/Corpus ); précédent : 000735; suivant : 000737Large French‐Canadian family with Lewy body parkinsonism: Exclusion of known loci
Auteurs : David A. Grimes ; J. David Grimes ; Lem Racacho ; Kylie A. Scoggan ; Fabin Han ; Betty Anne Schwarz ; John Woulfe ; Dennise BulmanSource :
- Movement Disorders [ 0885-3185 ] ; 2002-11.
English descriptors
- KwdEn :
Abstract
The identification of rare, large families with Parkinson's disease (PD) has provided important clues that have contributed to our understanding of this complex disorder. We have identified a large French‐Canadian kindred that spans five generations consisting of more than 90 individuals. A total of 65 individuals now have been examined, had venous blood drawn, and DNA extracted. Two‐point and multipoint linkage analysis was performed to assess linkage to known PD genes or loci. Within the third and fourth generations of this family there are 10 living, plus 3 deceased members with well‐documented levodopa responsive parkinsonism. Autopsy results on 1 member demonstrated the loss of pigmented neurons in the substantia nigra and the presence of α‐synuclein positive Lewy bodies. Four of the PD patients have prominent postural and kinetic tremors that preceded their parkinsonism by up to 10 years. Two other individuals within the family have prominent isolated postural and kinetic tremors without parkinsonism. The α‐synuclein(4q21.3‐23), Parkin(6q25.2‐27), PARK3 (2p13), PARK4, and ubiquitin carboxy terminal hydrolase‐L1 (4p14‐16.3) and PARK6 and PARK7 (1p35‐36) loci were excluded in this kindred using closely linked markers. The clinical and pathological features of this family are consistent with the diagnosis of PD. This family further demonstrates the known genetic heterogeneity in PD and is large enough that a genome‐wide screen has been undertaken in an effort to identify a novel PD gene. © 2002 Movement Disorder Society
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DOI: 10.1002/mds.10272
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ISTEX:FD1F8989C7036C5D149D990060F134DEBF0649E7Le document en format XML
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="2002-11">2002-11</date><biblScope unit="volume">17</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="1205">1205</biblScope><biblScope unit="page" to="1212">1212</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">FD1F8989C7036C5D149D990060F134DEBF0649E7</idno><idno type="DOI">10.1002/mds.10272</idno><idno type="ArticleID">MDS10272</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Lewy bodies</term><term>Parkinson's disease</term><term>genetic testing</term><term>parkin</term><term>α‐synuclein</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The identification of rare, large families with Parkinson's disease (PD) has provided important clues that have contributed to our understanding of this complex disorder. We have identified a large French‐Canadian kindred that spans five generations consisting of more than 90 individuals. A total of 65 individuals now have been examined, had venous blood drawn, and DNA extracted. Two‐point and multipoint linkage analysis was performed to assess linkage to known PD genes or loci. Within the third and fourth generations of this family there are 10 living, plus 3 deceased members with well‐documented levodopa responsive parkinsonism. Autopsy results on 1 member demonstrated the loss of pigmented neurons in the substantia nigra and the presence of α‐synuclein positive Lewy bodies. Four of the PD patients have prominent postural and kinetic tremors that preceded their parkinsonism by up to 10 years. Two other individuals within the family have prominent isolated postural and kinetic tremors without parkinsonism. The α‐synuclein(4q21.3‐23), Parkin(6q25.2‐27), PARK3 (2p13), PARK4, and ubiquitin carboxy terminal hydrolase‐L1 (4p14‐16.3) and PARK6 and PARK7 (1p35‐36) loci were excluded in this kindred using closely linked markers. The clinical and pathological features of this family are consistent with the diagnosis of PD. This family further demonstrates the known genetic heterogeneity in PD and is large enough that a genome‐wide screen has been undertaken in an effort to identify a novel PD gene. © 2002 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>David A. Grimes MD</name><affiliations><json:string>Ottawa Health Research Institute, Ottawa, Canada</json:string><json:string>Parkinson's Disease and Movement Disorders Clinic, Ottawa, Canada</json:string><json:string>The Ottawa Hospital, Civic Campus, 1053 Carling Avenue, Ottawa, Canada, K1Y 4E9</json:string></affiliations></json:item><json:item><name>J. David Grimes MD</name><affiliations><json:string>Parkinson's Disease and Movement Disorders Clinic, Ottawa, Canada</json:string></affiliations></json:item><json:item><name>Lem Racacho BSc</name><affiliations><json:string>Ottawa Health Research Institute, Ottawa, Canada</json:string></affiliations></json:item><json:item><name>Kylie A. 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We have identified a large French‐Canadian kindred that spans five generations consisting of more than 90 individuals. A total of 65 individuals now have been examined, had venous blood drawn, and DNA extracted. Two‐point and multipoint linkage analysis was performed to assess linkage to known PD genes or loci. Within the third and fourth generations of this family there are 10 living, plus 3 deceased members with well‐documented levodopa responsive parkinsonism. Autopsy results on 1 member demonstrated the loss of pigmented neurons in the substantia nigra and the presence of α‐synuclein positive Lewy bodies. Four of the PD patients have prominent postural and kinetic tremors that preceded their parkinsonism by up to 10 years. Two other individuals within the family have prominent isolated postural and kinetic tremors without parkinsonism. The α‐synuclein(4q21.3‐23), Parkin(6q25.2‐27), PARK3 (2p13), PARK4, and ubiquitin carboxy terminal hydrolase‐L1 (4p14‐16.3) and PARK6 and PARK7 (1p35‐36) loci were excluded in this kindred using closely linked markers. The clinical and pathological features of this family are consistent with the diagnosis of PD. 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David</forename><surname>Grimes</surname></persName><roleName type="degree">MD</roleName><affiliation>Parkinson's Disease and Movement Disorders Clinic, Ottawa, Canada</affiliation></author><author xml:id="author-3"><persName><forename type="first">Lem</forename><surname>Racacho</surname></persName><roleName type="degree">BSc</roleName><affiliation>Ottawa Health Research Institute, Ottawa, Canada</affiliation></author><author xml:id="author-4"><persName><forename type="first">Kylie A.</forename><surname>Scoggan</surname></persName><roleName type="degree">PhD</roleName><affiliation>Ottawa Health Research Institute, Ottawa, Canada</affiliation><affiliation>Health Canada, Nutrition Research Division, Ottawa, Canada</affiliation></author><author xml:id="author-5"><persName><forename type="first">Fabin</forename><surname>Han</surname></persName><roleName type="degree">MD</roleName><affiliation>Ottawa Health Research Institute, Ottawa, Canada</affiliation></author><author xml:id="author-6"><persName><forename type="first">Betty Anne</forename><surname>Schwarz</surname></persName><affiliation>Parkinson's Disease and Movement Disorders Clinic, Ottawa, Canada</affiliation></author><author xml:id="author-7"><persName><forename type="first">John</forename><surname>Woulfe</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>Department of Pathology and Laboratory Medicine, The Ottawa Hospital, Ottawa, Canada</affiliation></author><author xml:id="author-8"><persName><forename type="first">Dennise</forename><surname>Bulman</surname></persName><roleName type="degree">PhD</roleName><affiliation>Ottawa Health Research Institute, Ottawa, Canada</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 have identified a large French‐Canadian kindred that spans five generations consisting of more than 90 individuals. A total of 65 individuals now have been examined, had venous blood drawn, and DNA extracted. Two‐point and multipoint linkage analysis was performed to assess linkage to known PD genes or loci. Within the third and fourth generations of this family there are 10 living, plus 3 deceased members with well‐documented levodopa responsive parkinsonism. Autopsy results on 1 member demonstrated the loss of pigmented neurons in the substantia nigra and the presence of α‐synuclein positive Lewy bodies. Four of the PD patients have prominent postural and kinetic tremors that preceded their parkinsonism by up to 10 years. Two other individuals within the family have prominent isolated postural and kinetic tremors without parkinsonism. The α‐synuclein(4q21.3‐23), Parkin(6q25.2‐27), PARK3 (2p13), PARK4, and ubiquitin carboxy terminal hydrolase‐L1 (4p14‐16.3) and PARK6 and PARK7 (1p35‐36) loci were excluded in this kindred using closely linked markers. The clinical and pathological features of this family are consistent with the diagnosis of PD. This family further demonstrates the known genetic heterogeneity in PD and is large enough that a genome‐wide screen has been undertaken in an effort to identify a novel PD gene. © 2002 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>keywords</head><item><term>Parkinson's disease</term></item><item><term>α‐synuclein</term></item><item><term>Lewy bodies</term></item><item><term>parkin</term></item><item><term>genetic testing</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article-category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2001-08-14">Received</change><change when="2002-04-02">Registration</change><change when="2002-11">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api-v5.istex.fr/document/FD1F8989C7036C5D149D990060F134DEBF0649E7/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)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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David</givenNames><familyName>Grimes</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Lem</givenNames><familyName>Racacho</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>Kylie A.</givenNames><familyName>Scoggan</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Fabin</givenNames><familyName>Han</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Betty Anne</givenNames><familyName>Schwarz</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af4"><personName><givenNames>John</givenNames><familyName>Woulfe</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Dennise</givenNames><familyName>Bulman</familyName><degrees>PhD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="CA" type="organization"><unparsedAffiliation>Ottawa Health Research Institute, Ottawa, Canada</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="CA" type="organization"><unparsedAffiliation>Parkinson's Disease and Movement Disorders Clinic, Ottawa, Canada</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="CA" type="organization"><unparsedAffiliation>Health Canada, Nutrition Research Division, Ottawa, Canada</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="CA" type="organization"><unparsedAffiliation>Department of Pathology and Laboratory Medicine, The Ottawa Hospital, Ottawa, Canada</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson's disease</keyword><keyword xml:id="kwd2">α‐synuclein</keyword><keyword xml:id="kwd3">Lewy bodies</keyword><keyword xml:id="kwd4">parkin</keyword><keyword xml:id="kwd5">genetic testing</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The identification of rare, large families with Parkinson's disease (PD) has provided important clues that have contributed to our understanding of this complex disorder. We have identified a large French‐Canadian kindred that spans five generations consisting of more than 90 individuals. A total of 65 individuals now have been examined, had venous blood drawn, and DNA extracted. Two‐point and multipoint linkage analysis was performed to assess linkage to known PD genes or loci. Within the third and fourth generations of this family there are 10 living, plus 3 deceased members with well‐documented levodopa responsive parkinsonism. Autopsy results on 1 member demonstrated the loss of pigmented neurons in the substantia nigra and the presence of α‐synuclein positive Lewy bodies. Four of the PD patients have prominent postural and kinetic tremors that preceded their parkinsonism by up to 10 years. Two other individuals within the family have prominent isolated postural and kinetic tremors without parkinsonism. The α‐synuclein(4q21.3‐23), Parkin(6q25.2‐27), PARK3 (2p13), PARK4, and ubiquitin carboxy terminal hydrolase‐L1 (4p14‐16.3) and PARK6 and PARK7 (1p35‐36) loci were excluded in this kindred using closely linked markers. The clinical and pathological features of this family are consistent with the diagnosis of PD. This family further demonstrates the known genetic heterogeneity in PD and is large enough that a genome‐wide screen has been undertaken in an effort to identify a novel PD gene. © 2002 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Large French‐Canadian family with Lewy body parkinsonism: Exclusion of known loci</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Lewy Body Parkinsonism</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Large French‐Canadian family with Lewy body parkinsonism: Exclusion of known loci</title></titleInfo><name type="personal"><namePart type="given">David A.</namePart><namePart type="family">Grimes</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Ottawa Health Research Institute, Ottawa, Canada</affiliation><affiliation>Parkinson's Disease and Movement Disorders Clinic, Ottawa, Canada</affiliation><affiliation>The Ottawa Hospital, Civic Campus, 1053 Carling Avenue, Ottawa, Canada, K1Y 4E9</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J. David</namePart><namePart type="family">Grimes</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Parkinson's Disease and Movement Disorders Clinic, Ottawa, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lem</namePart><namePart type="family">Racacho</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Ottawa Health Research Institute, Ottawa, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kylie A.</namePart><namePart type="family">Scoggan</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Ottawa Health Research Institute, Ottawa, Canada</affiliation><affiliation>Health Canada, Nutrition Research Division, Ottawa, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Fabin</namePart><namePart type="family">Han</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Ottawa Health Research Institute, Ottawa, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Betty Anne</namePart><namePart type="family">Schwarz</namePart><affiliation>Parkinson's Disease and Movement Disorders Clinic, Ottawa, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John</namePart><namePart type="family">Woulfe</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Pathology and Laboratory Medicine, The Ottawa Hospital, Ottawa, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Dennise</namePart><namePart type="family">Bulman</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Ottawa Health Research Institute, Ottawa, Canada</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">New York</placeTerm></place><dateIssued encoding="w3cdtf">2002-11</dateIssued><dateCaptured encoding="w3cdtf">2001-08-14</dateCaptured><dateValid encoding="w3cdtf">2002-04-02</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">2</extent><extent unit="tables">2</extent><extent unit="references">32</extent><extent unit="words">3693</extent></physicalDescription><abstract lang="en">The identification of rare, large families with Parkinson's disease (PD) has provided important clues that have contributed to our understanding of this complex disorder. We have identified a large French‐Canadian kindred that spans five generations consisting of more than 90 individuals. A total of 65 individuals now have been examined, had venous blood drawn, and DNA extracted. Two‐point and multipoint linkage analysis was performed to assess linkage to known PD genes or loci. Within the third and fourth generations of this family there are 10 living, plus 3 deceased members with well‐documented levodopa responsive parkinsonism. Autopsy results on 1 member demonstrated the loss of pigmented neurons in the substantia nigra and the presence of α‐synuclein positive Lewy bodies. Four of the PD patients have prominent postural and kinetic tremors that preceded their parkinsonism by up to 10 years. Two other individuals within the family have prominent isolated postural and kinetic tremors without parkinsonism. The α‐synuclein(4q21.3‐23), Parkin(6q25.2‐27), PARK3 (2p13), PARK4, and ubiquitin carboxy terminal hydrolase‐L1 (4p14‐16.3) and PARK6 and PARK7 (1p35‐36) loci were excluded in this kindred using closely linked markers. The clinical and pathological features of this family are consistent with the diagnosis of PD. This family further demonstrates the known genetic heterogeneity in PD and is large enough that a genome‐wide screen has been undertaken in an effort to identify a novel PD gene. © 2002 Movement Disorder Society</abstract><subject lang="en"><genre>keywords</genre><topic>Parkinson's disease</topic><topic>α‐synuclein</topic><topic>Lewy bodies</topic><topic>parkin</topic><topic>genetic testing</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>Research Article</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>2002</date><detail type="volume"><caption>vol.</caption><number>17</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>1205</start><end>1212</end><total>8</total></extent></part></relatedItem><identifier type="istex">FD1F8989C7036C5D149D990060F134DEBF0649E7</identifier><identifier type="DOI">10.1002/mds.10272</identifier><identifier type="ArticleID">MDS10272</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2002 Movement Disorders 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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