The chorea of McLeod syndrome
Identifieur interne : 000848 ( Istex/Corpus ); précédent : 000847; suivant : 000849The chorea of McLeod syndrome
Auteurs : A. Danek ; F. Tison ; J. Rubio ; M. Oechsner ; W. Kalckreuth ; A. P. MonacoSource :
- Movement Disorders [ 0885-3185 ] ; 2001-09.
English descriptors
- KwdEn :
Abstract
Among the movement disorders associated with acanthocytosis, McLeod syndrome (McKusick 314850) is the one that is best characterized on the molecular level. Its defining feature is low reactivity of Kell erythrocyte antigens. This is due to absence of membrane protein KX that forms a complex with the Kell protein. KX is coded for by the XK gene on the X‐chromosome. We present six males (aged 29 to 60 years), with proven XK mutations, to discuss the chorea associated with McLeod syndrome. The movement disorder commonly develops in the fifth decade and is progressive. It affects the limbs, the trunk and the face. In addition to facial grimacing, involuntary vocalization can be present. In early stages there may only be some restlessness or slight involuntary distal movements of ankles and fingers. Lip‐biting and facial tics seem more common in autosomal recessive choreoacanthocytosis linked to chromosome 9. This, together with the absence of dysphagia in McLeod syndrome, may help in differential diagnosis. Recent findings suggest a role for the endothelin system of the striatum in the pathogenesis of McLeod syndrome. © 2001 Movement Disorder Society.
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DOI: 10.1002/mds.1188
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ISTEX:3C4A968D240A2578B0D55755C4FA182FBA29EBB5Le document en format XML
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Danek</name><affiliation><mods:affiliation>Neurologische Klinik, Ludwig‐Maximilians‐Universität, München, Germany</mods:affiliation></affiliation></author><author><name sortKey="Tison, F" sort="Tison, F" uniqKey="Tison F" first="F." last="Tison">F. Tison</name><affiliation><mods:affiliation>Service de Neurologie, Groupe Hospitalier Sud, CHU de Bordeaux, France</mods:affiliation></affiliation></author><author><name sortKey="Rubio, J" sort="Rubio, J" uniqKey="Rubio J" first="J." last="Rubio">J. Rubio</name><affiliation><mods:affiliation>Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Oechsner, M" sort="Oechsner, M" uniqKey="Oechsner M" first="M." last="Oechsner">M. 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Its defining feature is low reactivity of Kell erythrocyte antigens. This is due to absence of membrane protein KX that forms a complex with the Kell protein. KX is coded for by the XK gene on the X‐chromosome. We present six males (aged 29 to 60 years), with proven XK mutations, to discuss the chorea associated with McLeod syndrome. The movement disorder commonly develops in the fifth decade and is progressive. It affects the limbs, the trunk and the face. In addition to facial grimacing, involuntary vocalization can be present. In early stages there may only be some restlessness or slight involuntary distal movements of ankles and fingers. Lip‐biting and facial tics seem more common in autosomal recessive choreoacanthocytosis linked to chromosome 9. This, together with the absence of dysphagia in McLeod syndrome, may help in differential diagnosis. Recent findings suggest a role for the endothelin system of the striatum in the pathogenesis of McLeod syndrome. © 2001 Movement Disorder Society.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>A. Danek MD, PhD</name><affiliations><json:string>Neurologische Klinik, Ludwig‐Maximilians‐Universität, München, Germany</json:string></affiliations></json:item><json:item><name>F. Tison MD, PhD</name><affiliations><json:string>Service de Neurologie, Groupe Hospitalier Sud, CHU de Bordeaux, France</json:string></affiliations></json:item><json:item><name>J. Rubio PhD</name><affiliations><json:string>Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom</json:string></affiliations></json:item><json:item><name>M. Oechsner MD</name><affiliations><json:string>Neurologische Universitätsklinik, Hamburg, Germany</json:string></affiliations></json:item><json:item><name>W. Kalckreuth MD</name><affiliations><json:string>Zentrum für Psychiatrie, Emmendingen, Germany</json:string></affiliations></json:item><json:item><name>A.P. Monaco MD, PhD</name><affiliations><json:string>Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>McLeod syndrome</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>X‐linked</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>neurogenetic disorder</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>acanthocytosis</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Among the movement disorders associated with acanthocytosis, McLeod syndrome (McKusick 314850) is the one that is best characterized on the molecular level. Its defining feature is low reactivity of Kell erythrocyte antigens. 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xml:id="kwd5">acanthocytosis</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Among the movement disorders associated with acanthocytosis, McLeod syndrome (McKusick 314850) is the one that is best characterized on the molecular level. Its defining feature is low reactivity of Kell erythrocyte antigens. This is due to absence of membrane protein KX that forms a complex with the Kell protein. KX is coded for by the <i>XK</i> gene on the X‐chromosome. We present six males (aged 29 to 60 years), with proven <i>XK</i> mutations, to discuss the chorea associated with McLeod syndrome. The movement disorder commonly develops in the fifth decade and is progressive. It affects the limbs, the trunk and the face.</p><p>In addition to facial grimacing, involuntary vocalization can be present. In early stages there may only be some restlessness or slight involuntary distal movements of ankles and fingers. Lip‐biting and facial tics seem more common in autosomal recessive choreoacanthocytosis linked to chromosome 9. This, together with the absence of dysphagia in McLeod syndrome, may help in differential diagnosis. Recent findings suggest a role for the endothelin system of the striatum in the pathogenesis of McLeod syndrome. © 2001 Movement Disorder Society.</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>The chorea of McLeod syndrome</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>McLeod Chorea</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>The chorea of McLeod syndrome</title></titleInfo><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Danek</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Neurologische Klinik, Ludwig‐Maximilians‐Universität, München, Germany</affiliation><description>Correspondence: Neurologische Klinik, Ludwig‐Maximilians‐Universität München, Postfach 701260, D‐81366 München, Germany</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">F.</namePart><namePart type="family">Tison</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Service de Neurologie, Groupe Hospitalier Sud, CHU de Bordeaux, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J.</namePart><namePart type="family">Rubio</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M.</namePart><namePart type="family">Oechsner</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Neurologische Universitätsklinik, Hamburg, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">W.</namePart><namePart type="family">Kalckreuth</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Zentrum für Psychiatrie, Emmendingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.P.</namePart><namePart type="family">Monaco</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>John Wiley & Sons, Inc.</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">2001-09</dateIssued><dateCaptured encoding="w3cdtf">2000-09-21</dateCaptured><dateValid encoding="w3cdtf">2001-03-05</dateValid><copyrightDate encoding="w3cdtf">2001</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">46</extent><extent unit="words">4938</extent></physicalDescription><abstract lang="en">Among the movement disorders associated with acanthocytosis, McLeod syndrome (McKusick 314850) is the one that is best characterized on the molecular level. Its defining feature is low reactivity of Kell erythrocyte antigens. This is due to absence of membrane protein KX that forms a complex with the Kell protein. KX is coded for by the XK gene on the X‐chromosome. We present six males (aged 29 to 60 years), with proven XK mutations, to discuss the chorea associated with McLeod syndrome. The movement disorder commonly develops in the fifth decade and is progressive. It affects the limbs, the trunk and the face. In addition to facial grimacing, involuntary vocalization can be present. In early stages there may only be some restlessness or slight involuntary distal movements of ankles and fingers. Lip‐biting and facial tics seem more common in autosomal recessive choreoacanthocytosis linked to chromosome 9. This, together with the absence of dysphagia in McLeod syndrome, may help in differential diagnosis. Recent findings suggest a role for the endothelin system of the striatum in the pathogenesis of McLeod syndrome. © 2001 Movement Disorder Society.</abstract><note type="content">*A videotape accompanies this article.</note><subject lang="en"><genre>Keywords</genre><topic>McLeod syndrome</topic><topic>chorea</topic><topic>X‐linked</topic><topic>neurogenetic disorder</topic><topic>acanthocytosis</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>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>2001</date><detail type="volume"><caption>vol.</caption><number>16</number></detail><detail type="issue"><caption>no.</caption><number>5</number></detail><extent unit="pages"><start>882</start><end>889</end><total>8</total></extent></part></relatedItem><identifier type="istex">3C4A968D240A2578B0D55755C4FA182FBA29EBB5</identifier><identifier type="DOI">10.1002/mds.1188</identifier><identifier type="ArticleID">MDS1188</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2001 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>John Wiley & Sons, Inc.</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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