An intragenic duplication in guanosine triphosphate cyclohydrolase‐1 gene in a dopa‐responsive dystonia family
Identifieur interne : 001360 ( Istex/Corpus ); précédent : 001359; suivant : 001361An intragenic duplication in guanosine triphosphate cyclohydrolase‐1 gene in a dopa‐responsive dystonia family
Auteurs : Helen Ling ; James M. Polke ; Mary G. Sweeney ; Andrea Haworth ; Catherine A. Sandford ; Simon J. R. Heales ; Nicholas W. Wood ; Mary B. Davis ; Andrew J. LeesSource :
- Movement Disorders [ 0885-3185 ] ; 2011-04.
English descriptors
Abstract
Background:: Autosomal dominant dopa‐responsive dystonia is commonly caused by mutations in the guanosine triphosphate cyclohydrolase‐1 gene. Methods:: We report a British family that has been followed for more than 20 years in which no mutations were previously identified. Results:: Reanalysis of this pedigree detected a duplication of guanosine triphosphate cyclohydrolase‐1 exon 2 in affected family members. mRNA analysis showed a mutant transcript with a tandem exon 2 duplication. Four family members developed dopa‐responsive dystonia, with onset in their late teens, and subsequently developed restless leg syndrome and migraine. Conclusions:: This is the first report of an intragenic guanosine triphosphate cyclohydrolase‐1 duplication in a dopa‐responsive dystonia family. © 2011 Movement Disorder Society
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DOI: 10.1002/mds.23593
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Polke</name><affiliation><mods:affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name><affiliation><mods:affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Haworth, Andrea" sort="Haworth, Andrea" uniqKey="Haworth A" first="Andrea" last="Haworth">Andrea Haworth</name><affiliation><mods:affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Sandford, Catherine A" sort="Sandford, Catherine A" uniqKey="Sandford C" first="Catherine A." last="Sandford">Catherine A. Sandford</name><affiliation><mods:affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Heales, Simon J R" sort="Heales, Simon J R" uniqKey="Heales S" first="Simon J. R." last="Heales">Simon J. R. Heales</name><affiliation><mods:affiliation>Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>Enzyme and Metabolic Unit, Great Ormond Street Hospital, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. 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Polke</name><affiliation><mods:affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name><affiliation><mods:affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Haworth, Andrea" sort="Haworth, Andrea" uniqKey="Haworth A" first="Andrea" last="Haworth">Andrea Haworth</name><affiliation><mods:affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Sandford, Catherine A" sort="Sandford, Catherine A" uniqKey="Sandford C" first="Catherine A." last="Sandford">Catherine A. Sandford</name><affiliation><mods:affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Heales, Simon J R" sort="Heales, Simon J R" uniqKey="Heales S" first="Simon J. R." last="Heales">Simon J. R. Heales</name><affiliation><mods:affiliation>Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>Enzyme and Metabolic Unit, Great Ormond Street Hospital, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name><affiliation><mods:affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B." last="Davis">Mary B. Davis</name><affiliation><mods:affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew J. Lees</name><affiliation><mods:affiliation>Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College London, London, United Kingdom</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</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="2011-04">2011-04</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="905">905</biblScope><biblScope unit="page" to="909">909</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">32D6DD4F8CBFDE002C8DDF21549E22D9E7BC4BAC</idno><idno type="DOI">10.1002/mds.23593</idno><idno type="ArticleID">MDS23593</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>GCH1 duplication</term><term>dopa‐responsive dystonia</term><term>migraine</term><term>novel mutation</term><term>restless leg syndrome</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background:: Autosomal dominant dopa‐responsive dystonia is commonly caused by mutations in the guanosine triphosphate cyclohydrolase‐1 gene. Methods:: We report a British family that has been followed for more than 20 years in which no mutations were previously identified. Results:: Reanalysis of this pedigree detected a duplication of guanosine triphosphate cyclohydrolase‐1 exon 2 in affected family members. mRNA analysis showed a mutant transcript with a tandem exon 2 duplication. Four family members developed dopa‐responsive dystonia, with onset in their late teens, and subsequently developed restless leg syndrome and migraine. Conclusions:: This is the first report of an intragenic guanosine triphosphate cyclohydrolase‐1 duplication in a dopa‐responsive dystonia family. © 2011 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Helen Ling MD</name><affiliations><json:string>Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom</json:string><json:string>Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College London, London, United Kingdom</json:string></affiliations></json:item><json:item><name>James M. Polke PhD</name><affiliations><json:string>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Mary G. Sweeney BSc</name><affiliations><json:string>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Andrea Haworth MSc</name><affiliations><json:string>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Catherine A. Sandford BSc</name><affiliations><json:string>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Simon J.R. Heales PhD</name><affiliations><json:string>Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom</json:string><json:string>Enzyme and Metabolic Unit, Great Ormond Street Hospital, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Nicholas W. Wood PhD</name><affiliations><json:string>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Mary B. Davis PhD</name><affiliations><json:string>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Andrew J. Lees MD</name><affiliations><json:string>Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom</json:string><json:string>Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College London, London, United Kingdom</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>dopa‐responsive dystonia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>restless leg syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>migraine</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>GCH1 duplication</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>novel mutation</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Background:: Autosomal dominant dopa‐responsive dystonia is commonly caused by mutations in the guanosine triphosphate cyclohydrolase‐1 gene. Methods:: We report a British family that has been followed for more than 20 years in which no mutations were previously identified. Results:: Reanalysis of this pedigree detected a duplication of guanosine triphosphate cyclohydrolase‐1 exon 2 in affected family members. mRNA analysis showed a mutant transcript with a tandem exon 2 duplication. Four family members developed dopa‐responsive dystonia, with onset in their late teens, and subsequently developed restless leg syndrome and migraine. Conclusions:: This is the first report of an intragenic guanosine triphosphate cyclohydrolase‐1 duplication in a dopa‐responsive dystonia family. © 2011 Movement Disorder Society</abstract><qualityIndicators><score>6.332</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>818</abstractCharCount><pdfWordCount>17232</pdfWordCount><pdfCharCount>110789</pdfCharCount><pdfPageCount>28</pdfPageCount><abstractWordCount>111</abstractWordCount></qualityIndicators><title>An intragenic duplication in guanosine triphosphate cyclohydrolase‐1 gene in a dopa‐responsive dystonia family</title><genre><json:string>Serial article</json:string></genre><host><volume>26</volume><pages><total>5</total><last>909</last><first>905</first></pages><issn><json:string>0885-3185</json:string></issn><issue>5</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>2011</publicationDate><copyrightDate>2011</copyrightDate><doi><json:string>10.1002/mds.23593</json:string></doi><id>32D6DD4F8CBFDE002C8DDF21549E22D9E7BC4BAC</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/32D6DD4F8CBFDE002C8DDF21549E22D9E7BC4BAC/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/32D6DD4F8CBFDE002C8DDF21549E22D9E7BC4BAC/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/32D6DD4F8CBFDE002C8DDF21549E22D9E7BC4BAC/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">An intragenic duplication in guanosine triphosphate cyclohydrolase‐1 gene in a dopa‐responsive dystonia family</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>2011</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">An intragenic duplication in guanosine triphosphate cyclohydrolase‐1 gene in a dopa‐responsive dystonia family</title><author><persName><forename type="first">Helen</forename><surname>Ling</surname><roleName type="degree">MD</roleName></persName><note type="biography">Helen Ling and James M. Polke contributed equally to this article.</note><affiliation>Helen Ling and James M. Polke contributed equally to this article.</affiliation><affiliation>Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom</affiliation><affiliation>Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College London, London, United Kingdom</affiliation></author><author><persName><forename type="first">James M.</forename><surname>Polke</surname><roleName type="degree">PhD</roleName></persName><note type="biography">Helen Ling and James M. Polke contributed equally to this article.</note><affiliation>Helen Ling and James M. Polke contributed equally to this article.</affiliation><affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation></author><author><persName><forename type="first">Mary G.</forename><surname>Sweeney</surname><roleName type="degree">BSc</roleName></persName><affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation></author><author><persName><forename type="first">Andrea</forename><surname>Haworth</surname><roleName type="degree">MSc</roleName></persName><affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation></author><author><persName><forename type="first">Catherine A.</forename><surname>Sandford</surname><roleName type="degree">BSc</roleName></persName><affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation></author><author><persName><forename type="first">Simon J.R.</forename><surname>Heales</surname><roleName type="degree">PhD</roleName></persName><affiliation>Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><affiliation>Enzyme and Metabolic Unit, Great Ormond Street Hospital, London, United Kingdom</affiliation></author><author><persName><forename type="first">Nicholas W.</forename><surname>Wood</surname><roleName type="degree">PhD</roleName></persName><affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation></author><author><persName><forename type="first">Mary B.</forename><surname>Davis</surname><roleName type="degree">PhD</roleName></persName><affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation></author><author><persName><forename type="first">Andrew J.</forename><surname>Lees</surname><roleName type="degree">MD</roleName></persName><note type="correspondence"><p>Correspondence: Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, UCL, 1 Wakefield Street, London, WC1N 1PJ, United Kingdom</p></note><affiliation>Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom</affiliation><affiliation>Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College London, London, United Kingdom</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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Methods:: We report a British family that has been followed for more than 20 years in which no mutations were previously identified. Results:: Reanalysis of this pedigree detected a duplication of guanosine triphosphate cyclohydrolase‐1 exon 2 in affected family members. mRNA analysis showed a mutant transcript with a tandem exon 2 duplication. Four family members developed dopa‐responsive dystonia, with onset in their late teens, and subsequently developed restless leg syndrome and migraine. 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G.</givenNames><familyName>Sweeney</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Andrea</givenNames><familyName>Haworth</familyName><degrees>MSc</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Catherine A.</givenNames><familyName>Sandford</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af4 #af5"><personName><givenNames>Simon J.R.</givenNames><familyName>Heales</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Nicholas W.</givenNames><familyName>Wood</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Mary B.</givenNames><familyName>Davis</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af1 #af2" corresponding="yes"><personName><givenNames>Andrew J.</givenNames><familyName>Lees</familyName><degrees>MD</degrees></personName><contactDetails><email>alees@ion.ucl.ac.uk</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="GB" type="organization"><unparsedAffiliation>Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="GB" type="organization"><unparsedAffiliation>Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College London, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="GB" type="organization"><unparsedAffiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="GB" type="organization"><unparsedAffiliation>Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="GB" type="organization"><unparsedAffiliation>Enzyme and Metabolic Unit, Great Ormond Street Hospital, London, United Kingdom</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">dopa‐responsive dystonia</keyword><keyword xml:id="kwd2">restless leg syndrome</keyword><keyword xml:id="kwd3">migraine</keyword><keyword xml:id="kwd4">GCH1 duplication</keyword><keyword xml:id="kwd5">novel mutation</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:mds23593:MDS_23593_sm_suppinfo"></mediaResource><caption>Supporting Information.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23593:MDS_23593_sm_suppinfovideo1"></mediaResource><caption>Supporting Information Video 1.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23593:MDS_23593_sm_suppinfovideo2"></mediaResource><caption>Supporting Information Video 2.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23593:MDS_23593_sm_suppinfovideo3"></mediaResource><caption>Supporting Information Video 3.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23593:MDS_23593_sm_suppinfovideo4"></mediaResource><caption>Supporting Information Video 4.</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><section xml:id="abs1-1"><title type="main">Background:</title><p>Autosomal dominant dopa‐responsive dystonia is commonly caused by mutations in the guanosine triphosphate cyclohydrolase‐1 gene.</p></section><section xml:id="abs1-2"><title type="main">Methods:</title><p>We report a British family that has been followed for more than 20 years in which no mutations were previously identified.</p></section><section xml:id="abs1-3"><title type="main">Results:</title><p>Reanalysis of this pedigree detected a duplication of guanosine triphosphate cyclohydrolase‐1 exon 2 in affected family members. mRNA analysis showed a mutant transcript with a tandem exon 2 duplication. Four family members developed dopa‐responsive dystonia, with onset in their late teens, and subsequently developed restless leg syndrome and migraine.</p></section><section xml:id="abs1-4"><title type="main">Conclusions:</title><p>This is the first report of an intragenic guanosine triphosphate cyclohydrolase‐1 duplication in a dopa‐responsive dystonia family. © 2011 Movement Disorder Society</p></section></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn2"><p>Helen Ling and James M. Polke contributed equally to this article.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>An intragenic duplication in guanosine triphosphate cyclohydrolase‐1 gene in a dopa‐responsive dystonia family</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>An intragenic duplication in guanosine triphosphate cyclohydrolase‐1 gene in a dopa‐responsive dystonia family</title></titleInfo><name type="personal"><namePart type="given">Helen</namePart><namePart type="family">Ling</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom</affiliation><affiliation>Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College London, London, United Kingdom</affiliation><description>Helen Ling and James M. Polke contributed equally to this article.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">James M.</namePart><namePart type="family">Polke</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><description>Helen Ling and James M. Polke contributed equally to this article.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mary G.</namePart><namePart type="family">Sweeney</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andrea</namePart><namePart type="family">Haworth</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Catherine A.</namePart><namePart type="family">Sandford</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Simon J.R.</namePart><namePart type="family">Heales</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><affiliation>Enzyme and Metabolic Unit, Great Ormond Street Hospital, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nicholas W.</namePart><namePart type="family">Wood</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mary B.</namePart><namePart type="family">Davis</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andrew J.</namePart><namePart type="family">Lees</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom</affiliation><affiliation>Queen Square Brain Bank for Neurological Disorders and Institute of Neurology, University College London, London, United Kingdom</affiliation><description>Correspondence: Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, UCL, 1 Wakefield Street, London, WC1N 1PJ, United Kingdom</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">2011-04</dateIssued><dateCaptured encoding="w3cdtf">2010-09-28</dateCaptured><dateValid encoding="w3cdtf">2010-11-22</dateValid><copyrightDate encoding="w3cdtf">2011</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">10</extent><extent unit="words">2815</extent></physicalDescription><abstract lang="en">Background:: Autosomal dominant dopa‐responsive dystonia is commonly caused by mutations in the guanosine triphosphate cyclohydrolase‐1 gene. Methods:: We report a British family that has been followed for more than 20 years in which no mutations were previously identified. Results:: Reanalysis of this pedigree detected a duplication of guanosine triphosphate cyclohydrolase‐1 exon 2 in affected family members. mRNA analysis showed a mutant transcript with a tandem exon 2 duplication. Four family members developed dopa‐responsive dystonia, with onset in their late teens, and subsequently developed restless leg syndrome and migraine. Conclusions:: This is the first report of an intragenic guanosine triphosphate cyclohydrolase‐1 duplication in a dopa‐responsive dystonia family. © 2011 Movement Disorder Society</abstract><subject lang="en"><genre>Keywords</genre><topic>dopa‐responsive dystonia</topic><topic>restless leg syndrome</topic><topic>migraine</topic><topic>GCH1 duplication</topic><topic>novel mutation</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></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: Supporting Information. - Supporting Information Video 1. - Supporting Information Video 2. - Supporting Information Video 3. - Supporting Information Video 4. - </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>2011</date><detail type="volume"><caption>vol.</caption><number>26</number></detail><detail type="issue"><caption>no.</caption><number>5</number></detail><extent unit="pages"><start>905</start><end>909</end><total>5</total></extent></part></relatedItem><identifier type="istex">32D6DD4F8CBFDE002C8DDF21549E22D9E7BC4BAC</identifier><identifier type="DOI">10.1002/mds.23593</identifier><identifier type="ArticleID">MDS23593</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2011 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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