Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion
Identifieur interne : 003993 ( Istex/Corpus ); précédent : 003992; suivant : 003994Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion
Auteurs : Hanna ; Mary B. Davis ; Mary G. Sweeney ; Madi Noursadeghi ; Christopher J. Ellis ; Perry Elliot ; Nicholas W. Wood ; C. David MarsdenSource :
- Movement Disorders [ 0885-3185 ] ; 1998-03.
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- KwdEn :
Abstract
Recently, a trinucleotide repeat expansion in intron l of the frataxin gene on chromosome 9p13 has been identified as the genetic defect in Friedreich's ataxia (FA). We have identified two patients exhibiting generalized chorea in the absence of cerebellar signs who were homozygous for this intron 1 expansion. Chorea as a rare manifestation of FA has previously been controversial. This is the first report of chorea in patients confirmed to have the FA genetic abnormality and broadens further the clinical phenotype associated with the FA genotype.
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DOI: 10.1002/mds.870130223
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ISTEX:9F90F8DC128D85FC151667AECCE4C42AFE0A0ACDLe document en format XML
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Sweeney</name><affiliation><mods:affiliation>Department of Clinical Neurology, Institute of Neurology, Queen Square, London</mods:affiliation></affiliation></author><author><name sortKey="Noursadeghi, Madi" sort="Noursadeghi, Madi" uniqKey="Noursadeghi M" first="Madi" last="Noursadeghi">Madi Noursadeghi</name><affiliation><mods:affiliation>Department of Clinical Neurology, Institute of Neurology, Queen Square, London</mods:affiliation></affiliation></author><author><name sortKey="Ellis, Christopher J" sort="Ellis, Christopher J" uniqKey="Ellis C" first="Christopher J." last="Ellis">Christopher J. 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Ellis</name><affiliation><mods:affiliation>The Department of Neurology, Weymouth and District Hospital, Weymouth Dorset</mods:affiliation></affiliation></author><author><name sortKey="Elliot, Perry" sort="Elliot, Perry" uniqKey="Elliot P" first="Perry" last="Elliot">Perry Elliot</name><affiliation><mods:affiliation>The Department of Cardiology, St Georges Hospital, London</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>Department of Clinical Neurology, Institute of Neurology, Queen Square, London</mods:affiliation></affiliation></author><author><name sortKey="David Marsden, C" sort="David Marsden, C" uniqKey="David Marsden C" first="C." last="David Marsden">C. David Marsden</name><affiliation><mods:affiliation>Department of Clinical Neurology, Institute of Neurology, Queen Square, London</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="1998-03">1998-03</date><biblScope unit="vol">13</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="339">339</biblScope><biblScope unit="page" to="340">340</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">9F90F8DC128D85FC151667AECCE4C42AFE0A0ACD</idno><idno type="DOI">10.1002/mds.870130223</idno><idno type="ArticleID">MDS870130223</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chorea</term><term>Frataxin</term><term>Friedreich's ataxia</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Recently, a trinucleotide repeat expansion in intron l of the frataxin gene on chromosome 9p13 has been identified as the genetic defect in Friedreich's ataxia (FA). We have identified two patients exhibiting generalized chorea in the absence of cerebellar signs who were homozygous for this intron 1 expansion. Chorea as a rare manifestation of FA has previously been controversial. This is the first report of chorea in patients confirmed to have the FA genetic abnormality and broadens further the clinical phenotype associated with the FA genotype.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Dr. Hanna MD</name><affiliations><json:string>Department of Clinical Neurology, Institute of Neurology, Queen Square, London</json:string></affiliations></json:item><json:item><name>Mary B. Davis PhD</name><affiliations><json:string>Department of Clinical Neurology, Institute of Neurology, Queen Square, London</json:string></affiliations></json:item><json:item><name>Mary G. Sweeney BSc</name><affiliations><json:string>Department of Clinical Neurology, Institute of Neurology, Queen Square, London</json:string></affiliations></json:item><json:item><name>Madi Noursadeghi MRCP</name><affiliations><json:string>Department of Clinical Neurology, Institute of Neurology, Queen Square, London</json:string></affiliations></json:item><json:item><name>Christopher J. Ellis FRCP</name><affiliations><json:string>The Department of Neurology, Weymouth and District Hospital, Weymouth Dorset</json:string></affiliations></json:item><json:item><name>Perry Elliot MRCP</name><affiliations><json:string>The Department of Cardiology, St Georges Hospital, London</json:string></affiliations></json:item><json:item><name>Nicholas W. Wood PhD</name><affiliations><json:string>Department of Clinical Neurology, Institute of Neurology, Queen Square, London</json:string></affiliations></json:item><json:item><name>C. David Marsden FRS</name><affiliations><json:string>Department of Clinical Neurology, Institute of Neurology, Queen Square, London</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Friedreich's ataxia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Chorea</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Frataxin</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Recently, a trinucleotide repeat expansion in intron l of the frataxin gene on chromosome 9p13 has been identified as the genetic defect in Friedreich's ataxia (FA). We have identified two patients exhibiting generalized chorea in the absence of cerebellar signs who were homozygous for this intron 1 expansion. Chorea as a rare manifestation of FA has previously been controversial. 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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="1998-03"></date><biblScope unit="vol">13</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="339">339</biblScope><biblScope unit="page" to="340">340</biblScope></imprint></monogr><idno type="istex">9F90F8DC128D85FC151667AECCE4C42AFE0A0ACD</idno><idno type="DOI">10.1002/mds.870130223</idno><idno type="ArticleID">MDS870130223</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1998</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Recently, a trinucleotide repeat expansion in intron l of the frataxin gene on chromosome 9p13 has been identified as the genetic defect in Friedreich's ataxia (FA). We have identified two patients exhibiting generalized chorea in the absence of cerebellar signs who were homozygous for this intron 1 expansion. Chorea as a rare manifestation of FA has previously been controversial. This is the first report of chorea in patients confirmed to have the FA genetic abnormality and broadens further the clinical phenotype associated with the FA genotype.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Friedreich's ataxia</term></item><item><term>Chorea</term></item><item><term>Frataxin</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="1997-06-23">Received</change><change when="1997-08-05">Registration</change><change when="1998-03">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/9F90F8DC128D85FC151667AECCE4C42AFE0A0ACD/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="tocForm">Movement Disorders</title><title type="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. 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We have identified two patients exhibiting generalized chorea in the absence of cerebellar signs who were homozygous for this intron 1 expansion. Chorea as a rare manifestation of FA has previously been controversial. This is the first report of chorea in patients confirmed to have the FA genetic abnormality and broadens further the clinical phenotype associated with the FA genotype.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>A videotape accompanies this article.</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>Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Generalized Chorea in Two Patients Harboring the Friedreich'S</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion</title></titleInfo><name type="personal"><namePart type="termsOfAddress">Dr.</namePart><namePart type="family">Hanna</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Clinical Neurology, Institute of Neurology, Queen Square, London</affiliation><description>Correspondence: Department of Clinical Neurology, Institute of Neurology, Queen Square London WCIN 3BG</description><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>Department of Clinical Neurology, Institute of Neurology, Queen Square, London</affiliation><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>Department of Clinical Neurology, Institute of Neurology, Queen Square, London</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Madi</namePart><namePart type="family">Noursadeghi</namePart><namePart type="termsOfAddress">MRCP</namePart><affiliation>Department of Clinical Neurology, Institute of Neurology, Queen Square, London</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christopher J.</namePart><namePart type="family">Ellis</namePart><namePart type="termsOfAddress">FRCP</namePart><affiliation>The Department of Neurology, Weymouth and District Hospital, Weymouth Dorset</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Perry</namePart><namePart type="family">Elliot</namePart><namePart type="termsOfAddress">MRCP</namePart><affiliation>The Department of Cardiology, St Georges Hospital, London</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>Department of Clinical Neurology, Institute of Neurology, Queen Square, London</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C.</namePart><namePart type="family">David Marsden</namePart><namePart type="termsOfAddress">FRS</namePart><affiliation>Department of Clinical Neurology, Institute of Neurology, Queen Square, London</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">shortCommunication</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">1998-03</dateIssued><dateCaptured encoding="w3cdtf">1997-06-23</dateCaptured><dateValid encoding="w3cdtf">1997-08-05</dateValid><copyrightDate encoding="w3cdtf">1998</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="references">7</extent></physicalDescription><abstract lang="en">Recently, a trinucleotide repeat expansion in intron l of the frataxin gene on chromosome 9p13 has been identified as the genetic defect in Friedreich's ataxia (FA). We have identified two patients exhibiting generalized chorea in the absence of cerebellar signs who were homozygous for this intron 1 expansion. Chorea as a rare manifestation of FA has previously been controversial. This is the first report of chorea in patients confirmed to have the FA genetic abnormality and broadens further the clinical phenotype associated with the FA genotype.</abstract><note type="content">*A videotape accompanies this article.</note><subject lang="en"><genre>Keywords</genre><topic>Friedreich's ataxia</topic><topic>Chorea</topic><topic>Frataxin</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><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>1998</date><detail type="volume"><caption>vol.</caption><number>13</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>339</start><end>340</end><total>2</total></extent></part></relatedItem><identifier type="istex">9F90F8DC128D85FC151667AECCE4C42AFE0A0ACD</identifier><identifier type="DOI">10.1002/mds.870130223</identifier><identifier type="ArticleID">MDS870130223</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 1998 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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