Huntington's disease‐like 2 in Brazil—Report of 4 patients
Identifieur interne : 001712 ( Istex/Corpus ); précédent : 001711; suivant : 001713Huntington's disease‐like 2 in Brazil—Report of 4 patients
Auteurs : Guilherme G. Riccioppo Rodrigues ; Ruth H. Walker ; Alexis Brice ; Cécile Cazeneuve ; Odile Russaouen ; Helio A. G. Teive ; Renato Puppi Munhoz ; Nilson Becker ; Salmo Raskin ; Lineu Cesar Werneck ; Wilson Marques Junior ; Vitor TumasSource :
- Movement Disorders [ 0885-3185 ] ; 2008-11-15.
English descriptors
Abstract
Huntington's disease‐like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntington's disease (HD). HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD‐like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent. © 2008 Movement Disorder Society
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DOI: 10.1002/mds.22223
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ISTEX:05DA758D9E631830E86DFEBCED45DDA4591A4C02Le document en format XML
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Riccioppo" last="Rodrigues">Guilherme G. Riccioppo Rodrigues</name><affiliation><mods:affiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil</mods:affiliation></affiliation></author><author><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name><affiliation><mods:affiliation>Department of Neurology, James J. 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G." last="Teive">Helio A. G. Teive</name><affiliation><mods:affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Munhoz, Renato Puppi" sort="Munhoz, Renato Puppi" uniqKey="Munhoz R" first="Renato Puppi" last="Munhoz">Renato Puppi Munhoz</name><affiliation><mods:affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Becker, Nilson" sort="Becker, Nilson" uniqKey="Becker N" first="Nilson" last="Becker">Nilson Becker</name><affiliation><mods:affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name><affiliation><mods:affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Werneck, Lineu Cesar" sort="Werneck, Lineu Cesar" uniqKey="Werneck L" first="Lineu Cesar" last="Werneck">Lineu Cesar Werneck</name><affiliation><mods:affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Junior, Wilson Marques" sort="Junior, Wilson Marques" uniqKey="Junior W" first="Wilson Marques" last="Junior">Wilson Marques Junior</name><affiliation><mods:affiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil</mods:affiliation></affiliation></author><author><name sortKey="Tumas, Vitor" sort="Tumas, Vitor" uniqKey="Tumas V" first="Vitor" last="Tumas">Vitor Tumas</name><affiliation><mods:affiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil</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="2008-11-15">2008-11-15</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">15</biblScope><biblScope unit="page" from="2244">2244</biblScope><biblScope unit="page" to="2247">2247</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">05DA758D9E631830E86DFEBCED45DDA4591A4C02</idno><idno type="DOI">10.1002/mds.22223</idno><idno type="ArticleID">MDS22223</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Huntington's disease</term><term>Huntington's disease like</term><term>junctophilin 3</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Huntington's disease‐like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntington's disease (HD). HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD‐like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent. © 2008 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Guilherme G. Riccioppo Rodrigues MD</name><affiliations><json:string>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil</json:string></affiliations></json:item><json:item><name>Ruth H. Walker MB, ChB, PhD</name><affiliations><json:string>Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, New York</json:string><json:string>Department of Neurology, Mount Sinai School of Medicine, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Alexis Brice MD</name><affiliations><json:string>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié‐Salpêtrière, Assistance Publique‐Hôpitaux de Paris, France</json:string></affiliations></json:item><json:item><name>Cécile Cazeneuve PhD</name><affiliations><json:string>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié‐Salpêtrière, Assistance Publique‐Hôpitaux de Paris, France</json:string></affiliations></json:item><json:item><name>Odile Russaouen BSc</name><affiliations><json:string>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié‐Salpêtrière, Assistance Publique‐Hôpitaux de Paris, France</json:string></affiliations></json:item><json:item><name>Helio A.G. Teive MD, PhD</name><affiliations><json:string>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</json:string></affiliations></json:item><json:item><name>Renato Puppi Munhoz MD</name><affiliations><json:string>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</json:string></affiliations></json:item><json:item><name>Nilson Becker MD</name><affiliations><json:string>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</json:string></affiliations></json:item><json:item><name>Salmo Raskin MD, PhD</name><affiliations><json:string>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</json:string></affiliations></json:item><json:item><name>Lineu Cesar Werneck MD, PhD</name><affiliations><json:string>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</json:string></affiliations></json:item><json:item><name>Wilson Marques Junior MD, PhD</name><affiliations><json:string>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil</json:string></affiliations></json:item><json:item><name>Vitor Tumas MD, PhD</name><affiliations><json:string>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Huntington's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>junctophilin 3</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Huntington's disease like</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Huntington's disease‐like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntington's disease (HD). HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD‐like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent. © 2008 Movement Disorder Society</abstract><qualityIndicators><score>6.056</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>592</abstractCharCount><pdfWordCount>7082</pdfWordCount><pdfCharCount>45953</pdfCharCount><pdfPageCount>12</pdfPageCount><abstractWordCount>88</abstractWordCount></qualityIndicators><title>Huntington's disease‐like 2 in Brazil—Report of 4 patients</title><genre><json:string>Serial article</json:string></genre><host><volume>23</volume><pages><total>4</total><last>2247</last><first>2244</first></pages><issn><json:string>0885-3185</json:string></issn><issue>15</issue><subject><json:item><value>Brief Report</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>2008</publicationDate><copyrightDate>2008</copyrightDate><doi><json:string>10.1002/mds.22223</json:string></doi><id>05DA758D9E631830E86DFEBCED45DDA4591A4C02</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/05DA758D9E631830E86DFEBCED45DDA4591A4C02/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/05DA758D9E631830E86DFEBCED45DDA4591A4C02/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/05DA758D9E631830E86DFEBCED45DDA4591A4C02/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Huntington's disease‐like 2 in Brazil—Report of 4 patients</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>2008</date></publicationStmt><notesStmt><note type="content">*Potential conflict of interest: None reported.</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Huntington's disease‐like 2 in Brazil—Report of 4 patients</title><author><persName><forename type="first">Guilherme G. Riccioppo</forename><surname>Rodrigues</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil</affiliation></author><author><persName><forename type="first">Ruth H.</forename><surname>Walker</surname><roleName type="degree">MB, ChB, PhD</roleName></persName><affiliation>Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, New York</affiliation><affiliation>Department of Neurology, Mount Sinai School of Medicine, New York, New York, USA</affiliation></author><author><persName><forename type="first">Alexis</forename><surname>Brice</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié‐Salpêtrière, Assistance Publique‐Hôpitaux de Paris, France</affiliation></author><author><persName><forename type="first">Cécile</forename><surname>Cazeneuve</surname><roleName type="degree">PhD</roleName></persName><affiliation>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié‐Salpêtrière, Assistance Publique‐Hôpitaux de Paris, France</affiliation></author><author><persName><forename type="first">Odile</forename><surname>Russaouen</surname><roleName type="degree">BSc</roleName></persName><affiliation>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié‐Salpêtrière, Assistance Publique‐Hôpitaux de Paris, France</affiliation></author><author><persName><forename type="first">Helio A.G.</forename><surname>Teive</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</affiliation></author><author><persName><forename type="first">Renato Puppi</forename><surname>Munhoz</surname><roleName type="degree">MD</roleName></persName><affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</affiliation></author><author><persName><forename type="first">Nilson</forename><surname>Becker</surname><roleName type="degree">MD</roleName></persName><affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</affiliation></author><author><persName><forename type="first">Salmo</forename><surname>Raskin</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</affiliation></author><author><persName><forename type="first">Lineu Cesar</forename><surname>Werneck</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</affiliation></author><author><persName><forename type="first">Wilson Marques</forename><surname>Junior</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil</affiliation></author><author><persName><forename type="first">Vitor</forename><surname>Tumas</surname><roleName type="degree">MD, PhD</roleName></persName><note type="correspondence"><p>Correspondence: Department of Neurology, Psychiatry and Medical Psychology, Ribeirão Preto School of Medicine, University of São Paulo, Campus Universitário, Bairro Monte Alegre, Ribeirão Preto, SP, Brazil‐CEP 14049‐900</p></note><affiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil</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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HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD‐like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent. © 2008 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Huntington's disease</term></item><item><term>junctophilin 3</term></item><item><term>Huntington's disease like</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="2008-04-01">Received</change><change when="2008-06-17">Registration</change><change when="2008-11-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/05DA758D9E631830E86DFEBCED45DDA4591A4C02/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="150"><doi origin="wiley" registered="yes">10.1002/mds.v23:15</doi><numberingGroup><numbering type="journalVolume" number="23">23</numbering><numbering type="journalIssue">15</numbering></numberingGroup><coverDate startDate="2008-11-15">15 November 2008</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="150" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.22223</doi><idGroup><id type="unit" value="MDS22223"></id></idGroup><countGroup><count type="pageTotal" number="4"></count></countGroup><titleGroup><title type="articleCategory">Brief Report</title><title type="tocHeading1">Brief Reports</title></titleGroup><copyright ownership="thirdParty">Copyright © 2008 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2008-04-01"></event><event type="manuscriptRevised" date="2008-05-12"></event><event type="manuscriptAccepted" date="2008-06-17"></event><event type="publishedOnlineEarlyUnpaginated" date="2008-09-24"></event><event type="firstOnline" date="2008-09-24"></event><event type="publishedOnlineFinalForm" date="2008-11-24"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.2 mode:FullText source:FullText result:FullText" date="2010-03-09"></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">2244</numbering><numbering type="pageLast">2247</numbering></numberingGroup><correspondenceTo>Department of Neurology, Psychiatry and Medical Psychology, Ribeirão Preto School of Medicine, University of São Paulo, Campus Universitário, Bairro Monte Alegre, Ribeirão Preto, SP, Brazil‐CEP 14049‐900</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS22223.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="17"></count><count type="wordTotal" number="2511"></count></countGroup><titleGroup><title type="main" xml:lang="en">Huntington's disease‐like 2 in Brazil—Report of 4 patients<link href="#fn1"></link></title><title type="short" xml:lang="en">Huntington's Disease‐Like 2 in Brazil</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Guilherme G. Riccioppo</givenNames><familyName>Rodrigues</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2 #af3"><personName><givenNames>Ruth H.</givenNames><familyName>Walker</familyName><degrees>MB, ChB, PhD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Alexis</givenNames><familyName>Brice</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Cécile</givenNames><familyName>Cazeneuve</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Odile</givenNames><familyName>Russaouen</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Helio A.G.</givenNames><familyName>Teive</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Renato Puppi</givenNames><familyName>Munhoz</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Nilson</givenNames><familyName>Becker</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Salmo</givenNames><familyName>Raskin</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Lineu Cesar</givenNames><familyName>Werneck</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Wilson Marques</givenNames><familyName>Junior</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Vitor</givenNames><familyName>Tumas</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email>tumasv@rnp.fmrp.usp.br</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="BR" type="organization"><unparsedAffiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, New York</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Mount Sinai School of Medicine, New York, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="FR" type="organization"><unparsedAffiliation>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié‐Salpêtrière, Assistance Publique‐Hôpitaux de Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="BR" type="organization"><unparsedAffiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Huntington's disease</keyword><keyword xml:id="kwd2"><i>junctophilin 3</i></keyword><keyword xml:id="kwd3">Huntington's disease like</keyword></keywordGroup><supportingInformation><p> Additional Supporting Information may be found in the online version of this article. </p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds22223:22223"></mediaResource><caption>Segment 1. Patient 3 presenting dystonic postures in his right hand and face. Lying down, involuntary jerking movements in legs and right shoulder occur. Segment 2. Patient 4 exhibits involuntary tongue protrusions, excessive eye blinking, head bobbing, hyperactive deep tendon reflexes, and gait apraxia.</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Huntington's disease‐like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntington's disease (HD). HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the <i>JPH3</i> gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD‐like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent. © 2008 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Potential conflict of interest: None reported.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Huntington's disease‐like 2 in Brazil—Report of 4 patients</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Huntington's Disease‐Like 2 in Brazil</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Huntington's disease‐like 2 in Brazil—Report of 4 patients</title></titleInfo><name type="personal"><namePart type="given">Guilherme G. Riccioppo</namePart><namePart type="family">Rodrigues</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ruth H.</namePart><namePart type="family">Walker</namePart><namePart type="termsOfAddress">MB, ChB, PhD</namePart><affiliation>Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, New York</affiliation><affiliation>Department of Neurology, Mount Sinai School of Medicine, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexis</namePart><namePart type="family">Brice</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié‐Salpêtrière, Assistance Publique‐Hôpitaux de Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Cécile</namePart><namePart type="family">Cazeneuve</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié‐Salpêtrière, Assistance Publique‐Hôpitaux de Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Odile</namePart><namePart type="family">Russaouen</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Department of Genetics and Cytogenetics, Neurogenetics Unit, Hospital Pitié‐Salpêtrière, Assistance Publique‐Hôpitaux de Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Helio A.G.</namePart><namePart type="family">Teive</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Renato Puppi</namePart><namePart type="family">Munhoz</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nilson</namePart><namePart type="family">Becker</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Salmo</namePart><namePart type="family">Raskin</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lineu Cesar</namePart><namePart type="family">Werneck</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Wilson Marques</namePart><namePart type="family">Junior</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vitor</namePart><namePart type="family">Tumas</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil</affiliation><description>Correspondence: Department of Neurology, Psychiatry and Medical Psychology, Ribeirão Preto School of Medicine, University of São Paulo, Campus Universitário, Bairro Monte Alegre, Ribeirão Preto, SP, Brazil‐CEP 14049‐900</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">2008-11-15</dateIssued><dateCaptured encoding="w3cdtf">2008-04-01</dateCaptured><dateValid encoding="w3cdtf">2008-06-17</dateValid><copyrightDate encoding="w3cdtf">2008</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">1</extent><extent unit="references">17</extent><extent unit="words">2511</extent></physicalDescription><abstract lang="en">Huntington's disease‐like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntington's disease (HD). HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD‐like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent. © 2008 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: None reported.</note><subject lang="en"><genre>Keywords</genre><topic>Huntington's disease</topic><topic>junctophilin 3</topic><topic>Huntington's disease like</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"> Additional Supporting Information may be found in the online version of this article.Supporting Info Item: Segment 1. Patient 3 presenting dystonic postures in his right hand and face. Lying down, involuntary jerking movements in legs and right shoulder occur. Segment 2. Patient 4 exhibits involuntary tongue protrusions, excessive eye blinking, head bobbing, hyperactive deep tendon reflexes, and gait apraxia. - </note><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>2008</date><detail type="volume"><caption>vol.</caption><number>23</number></detail><detail type="issue"><caption>no.</caption><number>15</number></detail><extent unit="pages"><start>2244</start><end>2247</end><total>4</total></extent></part></relatedItem><identifier type="istex">05DA758D9E631830E86DFEBCED45DDA4591A4C02</identifier><identifier type="DOI">10.1002/mds.22223</identifier><identifier type="ArticleID">MDS22223</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2008 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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