A South African mixed ancestry family with Huntington disease‐like 2: Clinical and genetic features
Identifieur interne : 001A44 ( Istex/Corpus ); précédent : 001A43; suivant : 001A45A South African mixed ancestry family with Huntington disease‐like 2: Clinical and genetic features
Auteurs : Soraya Bardien ; Fatima Abrahams ; Himla Soodyall ; Lize Van Der Merwe ; Jacquie Greenberg ; Tinus Brink ; Jonathan CarrSource :
- Movement Disorders [ 0885-3185 ] ; 2007-10-31.
English descriptors
Abstract
Huntington disease‐like 2 (HDL2) is a neurodegenerative disorder caused by an expansion of a CTG repeat in the junctophilin‐3 gene (JPH3). A limited number of HDL2 families have been reported, all of apparently Black African ancestry. We report on a South African family that presented with progressive dementia and a movement disorder affecting numerous family members. Genotyping of the JPH3 CTG repeat revealed pathogenic expansions in three affected individuals. Whereas HDL2 is thought to be clinically indistinguishable from Huntington disease (HD), 2 of the patients in this study presented with clinical symptoms that differed substantially from HD; one had myoclonus and the other had Parkinsonism. Moreover, brain magnetic resonance imaging scans of these patients showed imaging features atypical for HD. Mitochondrial DNA and Y‐chromosome DNA analysis on a family member showed that his maternal and paternal ancestries are typical of that found among the South African mixed ancestry or colored population. A difference in the distribution of CTG repeats between Caucasian and Black individuals was detected. We conclude that the phenotype of HDL2 is broad and can differ from that of typical HD. The diagnosis therefore should be considered in a wide spectrum of neuropsychiatric and abnormal movement presentations. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21672
Links to Exploration step
ISTEX:D855F22FAD6A70E96C5B69DFF829A180CCAF3A00Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">A South African mixed ancestry family with Huntington disease‐like 2: Clinical and genetic features</title><author><name sortKey="Bardien, Soraya" sort="Bardien, Soraya" uniqKey="Bardien S" first="Soraya" last="Bardien">Soraya Bardien</name><affiliation><mods:affiliation>Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</mods:affiliation></affiliation></author><author><name sortKey="Abrahams, Fatima" sort="Abrahams, Fatima" uniqKey="Abrahams F" first="Fatima" last="Abrahams">Fatima Abrahams</name><affiliation><mods:affiliation>Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</mods:affiliation></affiliation></author><author><name sortKey="Soodyall, Himla" sort="Soodyall, Himla" uniqKey="Soodyall H" first="Himla" last="Soodyall">Himla Soodyall</name><affiliation><mods:affiliation>MRC/NHLS/Wits Human Genomic Diversity and Disease Research Unit, National Health Laboratory Service and School of Pathology, University of Witwatersrand, Johannesburg, South Africa</mods:affiliation></affiliation></author><author><name sortKey="Van Der Merwe, Lize" sort="Van Der Merwe, Lize" uniqKey="Van Der Merwe L" first="Lize" last="Van Der Merwe">Lize Van Der Merwe</name><affiliation><mods:affiliation>Biostatistics Unit, Medical Research Council of South Africa, Cape Town, South Africa</mods:affiliation></affiliation></author><author><name sortKey="Greenberg, Jacquie" sort="Greenberg, Jacquie" uniqKey="Greenberg J" first="Jacquie" last="Greenberg">Jacquie Greenberg</name><affiliation><mods:affiliation>MRC/UCT Human Genetics Research Unit, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa</mods:affiliation></affiliation></author><author><name sortKey="Brink, Tinus" sort="Brink, Tinus" uniqKey="Brink T" first="Tinus" last="Brink">Tinus Brink</name><affiliation><mods:affiliation>Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</mods:affiliation></affiliation></author><author><name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name><affiliation><mods:affiliation>Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:D855F22FAD6A70E96C5B69DFF829A180CCAF3A00</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21672</idno><idno type="url">https://api.istex.fr/document/D855F22FAD6A70E96C5B69DFF829A180CCAF3A00/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001A44</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">A South African mixed ancestry family with Huntington disease‐like 2: Clinical and genetic features</title><author><name sortKey="Bardien, Soraya" sort="Bardien, Soraya" uniqKey="Bardien S" first="Soraya" last="Bardien">Soraya Bardien</name><affiliation><mods:affiliation>Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</mods:affiliation></affiliation></author><author><name sortKey="Abrahams, Fatima" sort="Abrahams, Fatima" uniqKey="Abrahams F" first="Fatima" last="Abrahams">Fatima Abrahams</name><affiliation><mods:affiliation>Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</mods:affiliation></affiliation></author><author><name sortKey="Soodyall, Himla" sort="Soodyall, Himla" uniqKey="Soodyall H" first="Himla" last="Soodyall">Himla Soodyall</name><affiliation><mods:affiliation>MRC/NHLS/Wits Human Genomic Diversity and Disease Research Unit, National Health Laboratory Service and School of Pathology, University of Witwatersrand, Johannesburg, South Africa</mods:affiliation></affiliation></author><author><name sortKey="Van Der Merwe, Lize" sort="Van Der Merwe, Lize" uniqKey="Van Der Merwe L" first="Lize" last="Van Der Merwe">Lize Van Der Merwe</name><affiliation><mods:affiliation>Biostatistics Unit, Medical Research Council of South Africa, Cape Town, South Africa</mods:affiliation></affiliation></author><author><name sortKey="Greenberg, Jacquie" sort="Greenberg, Jacquie" uniqKey="Greenberg J" first="Jacquie" last="Greenberg">Jacquie Greenberg</name><affiliation><mods:affiliation>MRC/UCT Human Genetics Research Unit, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa</mods:affiliation></affiliation></author><author><name sortKey="Brink, Tinus" sort="Brink, Tinus" uniqKey="Brink T" first="Tinus" last="Brink">Tinus Brink</name><affiliation><mods:affiliation>Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</mods:affiliation></affiliation></author><author><name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name><affiliation><mods:affiliation>Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><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. 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>Hoboken</pubPlace><date type="published" when="2007-10-31">2007-10-31</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">14</biblScope><biblScope unit="page" from="2083">2083</biblScope><biblScope unit="page" to="2089">2089</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">D855F22FAD6A70E96C5B69DFF829A180CCAF3A00</idno><idno type="DOI">10.1002/mds.21672</idno><idno type="ArticleID">MDS21672</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>CTG repeats</term><term>HDL2 phenotype</term><term>Huntington disease‐like 2</term><term>JPH3</term><term>genetic ancestry</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Huntington disease‐like 2 (HDL2) is a neurodegenerative disorder caused by an expansion of a CTG repeat in the junctophilin‐3 gene (JPH3). A limited number of HDL2 families have been reported, all of apparently Black African ancestry. We report on a South African family that presented with progressive dementia and a movement disorder affecting numerous family members. Genotyping of the JPH3 CTG repeat revealed pathogenic expansions in three affected individuals. Whereas HDL2 is thought to be clinically indistinguishable from Huntington disease (HD), 2 of the patients in this study presented with clinical symptoms that differed substantially from HD; one had myoclonus and the other had Parkinsonism. Moreover, brain magnetic resonance imaging scans of these patients showed imaging features atypical for HD. Mitochondrial DNA and Y‐chromosome DNA analysis on a family member showed that his maternal and paternal ancestries are typical of that found among the South African mixed ancestry or colored population. A difference in the distribution of CTG repeats between Caucasian and Black individuals was detected. We conclude that the phenotype of HDL2 is broad and can differ from that of typical HD. The diagnosis therefore should be considered in a wide spectrum of neuropsychiatric and abnormal movement presentations. © 2007 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Soraya Bardien PhD</name><affiliations><json:string>Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</json:string></affiliations></json:item><json:item><name>Fatima Abrahams BSc (Hons)</name><affiliations><json:string>Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</json:string></affiliations></json:item><json:item><name>Himla Soodyall PhD</name><affiliations><json:string>MRC/NHLS/Wits Human Genomic Diversity and Disease Research Unit, National Health Laboratory Service and School of Pathology, University of Witwatersrand, Johannesburg, South Africa</json:string></affiliations></json:item><json:item><name>Lize van der Merwe PhD</name><affiliations><json:string>Biostatistics Unit, Medical Research Council of South Africa, Cape Town, South Africa</json:string></affiliations></json:item><json:item><name>Jacquie Greenberg PhD</name><affiliations><json:string>MRC/UCT Human Genetics Research Unit, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa</json:string></affiliations></json:item><json:item><name>Tinus Brink MB ChB</name><affiliations><json:string>Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</json:string></affiliations></json:item><json:item><name>Jonathan Carr MB ChB</name><affiliations><json:string>Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Huntington disease‐like 2</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>HDL2 phenotype</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>CTG repeats</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>JPH3</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetic ancestry</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Huntington disease‐like 2 (HDL2) is a neurodegenerative disorder caused by an expansion of a CTG repeat in the junctophilin‐3 gene (JPH3). A limited number of HDL2 families have been reported, all of apparently Black African ancestry. We report on a South African family that presented with progressive dementia and a movement disorder affecting numerous family members. Genotyping of the JPH3 CTG repeat revealed pathogenic expansions in three affected individuals. Whereas HDL2 is thought to be clinically indistinguishable from Huntington disease (HD), 2 of the patients in this study presented with clinical symptoms that differed substantially from HD; one had myoclonus and the other had Parkinsonism. Moreover, brain magnetic resonance imaging scans of these patients showed imaging features atypical for HD. Mitochondrial DNA and Y‐chromosome DNA analysis on a family member showed that his maternal and paternal ancestries are typical of that found among the South African mixed ancestry or colored population. A difference in the distribution of CTG repeats between Caucasian and Black individuals was detected. We conclude that the phenotype of HDL2 is broad and can differ from that of typical HD. The diagnosis therefore should be considered in a wide spectrum of neuropsychiatric and abnormal movement presentations. © 2007 Movement Disorder Society</abstract><qualityIndicators><score>5.798</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1363</abstractCharCount><pdfWordCount>3350</pdfWordCount><pdfCharCount>21981</pdfCharCount><pdfPageCount>7</pdfPageCount><abstractWordCount>204</abstractWordCount></qualityIndicators><title>A South African mixed ancestry family with Huntington disease‐like 2: Clinical and genetic features</title><genre><json:string>Serial article</json:string></genre><host><volume>22</volume><pages><total>7</total><last>2089</last><first>2083</first></pages><issn><json:string>0885-3185</json:string></issn><issue>14</issue><subject><json:item><value>Research Article</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2007</publicationDate><copyrightDate>2007</copyrightDate><doi><json:string>10.1002/mds.21672</json:string></doi><id>D855F22FAD6A70E96C5B69DFF829A180CCAF3A00</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/D855F22FAD6A70E96C5B69DFF829A180CCAF3A00/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/D855F22FAD6A70E96C5B69DFF829A180CCAF3A00/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/D855F22FAD6A70E96C5B69DFF829A180CCAF3A00/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">A South African mixed ancestry family with Huntington disease‐like 2: Clinical and genetic features</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2007</date></publicationStmt><notesStmt><note>Research Fund of the Neurology Division, Department of Medicine, University of Stellenbosch</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">A South African mixed ancestry family with Huntington disease‐like 2: Clinical and genetic features</title><author><persName><forename type="first">Soraya</forename><surname>Bardien</surname><roleName type="degree">PhD</roleName></persName><affiliation>Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</affiliation></author><author><persName><forename type="first">Fatima</forename><surname>Abrahams</surname><roleName type="degree">BSc (Hons)</roleName></persName><affiliation>Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</affiliation></author><author><persName><forename type="first">Himla</forename><surname>Soodyall</surname><roleName type="degree">PhD</roleName></persName><affiliation>MRC/NHLS/Wits Human Genomic Diversity and Disease Research Unit, National Health Laboratory Service and School of Pathology, University of Witwatersrand, Johannesburg, South Africa</affiliation></author><author><persName><forename type="first">Lize</forename><surname>van der Merwe</surname><roleName type="degree">PhD</roleName></persName><affiliation>Biostatistics Unit, Medical Research Council of South Africa, Cape Town, South Africa</affiliation></author><author><persName><forename type="first">Jacquie</forename><surname>Greenberg</surname><roleName type="degree">PhD</roleName></persName><affiliation>MRC/UCT Human Genetics Research Unit, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa</affiliation></author><author><persName><forename type="first">Tinus</forename><surname>Brink</surname><roleName type="degree">MB ChB</roleName></persName><affiliation>Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</affiliation></author><author><persName><forename type="first">Jonathan</forename><surname>Carr</surname><roleName type="degree">MB ChB</roleName></persName><note type="correspondence"><p>Correspondence: Neurology Division, Department of Medicine, Faculty of Health Sciences, PO Box 19063, Tygerberg, 7505, Cape Town, South Africa</p></note><affiliation>Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</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. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-10-31"></date><biblScope unit="vol">22</biblScope><biblScope unit="issue">14</biblScope><biblScope unit="page" from="2083">2083</biblScope><biblScope unit="page" to="2089">2089</biblScope></imprint></monogr><idno type="istex">D855F22FAD6A70E96C5B69DFF829A180CCAF3A00</idno><idno type="DOI">10.1002/mds.21672</idno><idno type="ArticleID">MDS21672</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2007</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Huntington disease‐like 2 (HDL2) is a neurodegenerative disorder caused by an expansion of a CTG repeat in the junctophilin‐3 gene (JPH3). A limited number of HDL2 families have been reported, all of apparently Black African ancestry. We report on a South African family that presented with progressive dementia and a movement disorder affecting numerous family members. Genotyping of the JPH3 CTG repeat revealed pathogenic expansions in three affected individuals. Whereas HDL2 is thought to be clinically indistinguishable from Huntington disease (HD), 2 of the patients in this study presented with clinical symptoms that differed substantially from HD; one had myoclonus and the other had Parkinsonism. Moreover, brain magnetic resonance imaging scans of these patients showed imaging features atypical for HD. Mitochondrial DNA and Y‐chromosome DNA analysis on a family member showed that his maternal and paternal ancestries are typical of that found among the South African mixed ancestry or colored population. A difference in the distribution of CTG repeats between Caucasian and Black individuals was detected. We conclude that the phenotype of HDL2 is broad and can differ from that of typical HD. The diagnosis therefore should be considered in a wide spectrum of neuropsychiatric and abnormal movement presentations. © 2007 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Huntington disease‐like 2</term></item><item><term>HDL2 phenotype</term></item><item><term>CTG repeats</term></item><item><term>JPH3</term></item><item><term>genetic ancestry</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="2007-04-10">Received</change><change when="2007-06-28">Registration</change><change when="2007-10-31">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/D855F22FAD6A70E96C5B69DFF829A180CCAF3A00/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. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="140"><doi origin="wiley" registered="yes">10.1002/mds.v22:14</doi><numberingGroup><numbering type="journalVolume" number="22">22</numbering><numbering type="journalIssue">14</numbering></numberingGroup><coverDate startDate="2007-10-31">31 October 2007</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="120" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.21672</doi><idGroup><id type="unit" value="MDS21672"></id></idGroup><countGroup><count type="pageTotal" number="7"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2007 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2007-04-10"></event><event type="manuscriptRevised" date="2007-05-31"></event><event type="manuscriptAccepted" date="2007-06-28"></event><event type="publishedOnlineEarlyUnpaginated" date="2007-08-20"></event><event type="firstOnline" date="2007-08-20"></event><event type="publishedOnlineFinalForm" date="2007-10-26"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.6 mode:FullText source:FullText result:FullText" date="2010-04-21"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">2083</numbering><numbering type="pageLast">2089</numbering></numberingGroup><correspondenceTo>Neurology Division, Department of Medicine, Faculty of Health Sciences, PO Box 19063, Tygerberg, 7505, Cape Town, South Africa</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS21672.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="3"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="22"></count><count type="wordTotal" number="3787"></count></countGroup><titleGroup><title type="main" xml:lang="en">A South African mixed ancestry family with Huntington disease‐like 2: Clinical and genetic features</title><title type="short" xml:lang="en">HDL2 in South Africa</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Soraya</givenNames><familyName>Bardien</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Fatima</givenNames><familyName>Abrahams</familyName><degrees>BSc (Hons)</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Himla</givenNames><familyName>Soodyall</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Lize</givenNames><familyName>van der Merwe</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Jacquie</givenNames><familyName>Greenberg</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Tinus</givenNames><familyName>Brink</familyName><degrees>MB ChB</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af5" corresponding="yes"><personName><givenNames>Jonathan</givenNames><familyName>Carr</familyName><degrees>MB ChB</degrees></personName><contactDetails><email>jcarr@sun.ac.za</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="ZA" type="organization"><unparsedAffiliation>Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="ZA" type="organization"><unparsedAffiliation>MRC/NHLS/Wits Human Genomic Diversity and Disease Research Unit, National Health Laboratory Service and School of Pathology, University of Witwatersrand, Johannesburg, South Africa</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="ZA" type="organization"><unparsedAffiliation>Biostatistics Unit, Medical Research Council of South Africa, Cape Town, South Africa</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="ZA" type="organization"><unparsedAffiliation>MRC/UCT Human Genetics Research Unit, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="ZA" type="organization"><unparsedAffiliation>Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Huntington disease‐like 2</keyword><keyword xml:id="kwd2">HDL2 phenotype</keyword><keyword xml:id="kwd3">CTG repeats</keyword><keyword xml:id="kwd4"><i>JPH3</i></keyword><keyword xml:id="kwd5">genetic ancestry</keyword></keywordGroup><fundingInfo><fundingAgency>Research Fund of the Neurology Division, Department of Medicine, University of Stellenbosch</fundingAgency></fundingInfo><supportingInformation><p> This article includes supplementary video clips, 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><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds21672:mds21672-MDS21672"></mediaResource><caption>The first segment shows patient IV‐1 demonstrating tremor present with posture‐holding, intention and rest. The second segment shows patient III‐9, demonstrating stooped posture, low amplitude action tremor, and reduction in arm swing on the left.</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Huntington disease‐like 2 (HDL2) is a neurodegenerative disorder caused by an expansion of a CTG repeat in the junctophilin‐3 gene (<i>JPH3</i>). A limited number of HDL2 families have been reported, all of apparently Black African ancestry. We report on a South African family that presented with progressive dementia and a movement disorder affecting numerous family members. Genotyping of the <i>JPH3</i> CTG repeat revealed pathogenic expansions in three affected individuals. Whereas HDL2 is thought to be clinically indistinguishable from Huntington disease (HD), 2 of the patients in this study presented with clinical symptoms that differed substantially from HD; one had myoclonus and the other had Parkinsonism. Moreover, brain magnetic resonance imaging scans of these patients showed imaging features atypical for HD. Mitochondrial DNA and Y‐chromosome DNA analysis on a family member showed that his maternal and paternal ancestries are typical of that found among the South African mixed ancestry or colored population. A difference in the distribution of CTG repeats between Caucasian and Black individuals was detected. We conclude that the phenotype of HDL2 is broad and can differ from that of typical HD. The diagnosis therefore should be considered in a wide spectrum of neuropsychiatric and abnormal movement presentations. © 2007 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>A South African mixed ancestry family with Huntington disease‐like 2: Clinical and genetic features</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>HDL2 in South Africa</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>A South African mixed ancestry family with Huntington disease‐like 2: Clinical and genetic features</title></titleInfo><name type="personal"><namePart type="given">Soraya</namePart><namePart type="family">Bardien</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Fatima</namePart><namePart type="family">Abrahams</namePart><namePart type="termsOfAddress">BSc (Hons)</namePart><affiliation>Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Himla</namePart><namePart type="family">Soodyall</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>MRC/NHLS/Wits Human Genomic Diversity and Disease Research Unit, National Health Laboratory Service and School of Pathology, University of Witwatersrand, Johannesburg, South Africa</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lize</namePart><namePart type="family">van der Merwe</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Biostatistics Unit, Medical Research Council of South Africa, Cape Town, South Africa</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jacquie</namePart><namePart type="family">Greenberg</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>MRC/UCT Human Genetics Research Unit, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tinus</namePart><namePart type="family">Brink</namePart><namePart type="termsOfAddress">MB ChB</namePart><affiliation>Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jonathan</namePart><namePart type="family">Carr</namePart><namePart type="termsOfAddress">MB ChB</namePart><affiliation>Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa</affiliation><description>Correspondence: Neurology Division, Department of Medicine, Faculty of Health Sciences, PO Box 19063, Tygerberg, 7505, Cape Town, South Africa</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2007-10-31</dateIssued><dateCaptured encoding="w3cdtf">2007-04-10</dateCaptured><dateValid encoding="w3cdtf">2007-06-28</dateValid><copyrightDate encoding="w3cdtf">2007</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">3</extent><extent unit="tables">1</extent><extent unit="references">22</extent><extent unit="words">3787</extent></physicalDescription><abstract lang="en">Huntington disease‐like 2 (HDL2) is a neurodegenerative disorder caused by an expansion of a CTG repeat in the junctophilin‐3 gene (JPH3). A limited number of HDL2 families have been reported, all of apparently Black African ancestry. We report on a South African family that presented with progressive dementia and a movement disorder affecting numerous family members. Genotyping of the JPH3 CTG repeat revealed pathogenic expansions in three affected individuals. Whereas HDL2 is thought to be clinically indistinguishable from Huntington disease (HD), 2 of the patients in this study presented with clinical symptoms that differed substantially from HD; one had myoclonus and the other had Parkinsonism. Moreover, brain magnetic resonance imaging scans of these patients showed imaging features atypical for HD. Mitochondrial DNA and Y‐chromosome DNA analysis on a family member showed that his maternal and paternal ancestries are typical of that found among the South African mixed ancestry or colored population. A difference in the distribution of CTG repeats between Caucasian and Black individuals was detected. We conclude that the phenotype of HDL2 is broad and can differ from that of typical HD. The diagnosis therefore should be considered in a wide spectrum of neuropsychiatric and abnormal movement presentations. © 2007 Movement Disorder Society</abstract><note type="funding">Research Fund of the Neurology Division, Department of Medicine, University of Stellenbosch</note><subject lang="en"><genre>Keywords</genre><topic>Huntington disease‐like 2</topic><topic>HDL2 phenotype</topic><topic>CTG repeats</topic><topic>JPH3</topic><topic>genetic ancestry</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><note type="content"> This article includes supplementary video clips, available online at http://www.interscience.wiley.com/jpages/0885‐3185/suppmat .Supporting Info Item: The first segment shows patient IV‐1 demonstrating tremor present with posture‐holding, intention and rest. The second segment shows patient III‐9, demonstrating stooped posture, low amplitude action tremor, and reduction in arm swing on the left. - </note><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>2007</date><detail type="volume"><caption>vol.</caption><number>22</number></detail><detail type="issue"><caption>no.</caption><number>14</number></detail><extent unit="pages"><start>2083</start><end>2089</end><total>7</total></extent></part></relatedItem><identifier type="istex">D855F22FAD6A70E96C5B69DFF829A180CCAF3A00</identifier><identifier type="DOI">10.1002/mds.21672</identifier><identifier type="ArticleID">MDS21672</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2007 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)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001A44 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 001A44 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Istex
|étape= Corpus
|type= RBID
|clé= ISTEX:D855F22FAD6A70E96C5B69DFF829A180CCAF3A00
|texte= A South African mixed ancestry family with Huntington disease‐like 2: Clinical and genetic features
}}
| This area was generated with Dilib version V0.6.23. |  |