Phenotypic variability of a distinct deletion in McLeod syndrome
Identifieur interne : 003000 ( Istex/Corpus ); précédent : 002F99; suivant : 003001Phenotypic variability of a distinct deletion in McLeod syndrome
Auteurs : Marcelo Miranda ; Claudia Castiglioni ; Beat M. Frey ; Martin Hergersberg ; Adrian Danek ; Hans H. JungSource :
- Movement Disorders [ 0885-3185 ] ; 2007-07-15.
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Abstract
The X‐linked McLeod neuroacanthocytosis syndrome strongly resembles Huntington's disease and has been reported in various countries world‐wide. Herein, we report two Chilean brothers with predominant psychiatric features at disease onset including schizophrenia‐like psychosis and obsessive compulsive disorder. Molecular genetic analysis revealed a small deletion in the XK gene (938‐942delCTCTA), which has been already described in a North American patient of Anglo‐Saxon descent and a Japanese family, presenting with seizures, muscle atrophy or chorea yet absence of psychiatric features. These findings argue against a founder effect and indicate a profound phenotypic variability associated with the 938‐942delCTCTA deletion. Our report supports the inclusion of McLeod syndrome in the differential diagnosis of Huntington's disease as well as acute psychosis in male subjects. © 2007 Movement Disorder Society
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DOI: 10.1002/mds.21536
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ISTEX:081D9F2C1B3ABA65C36FA3C1737726EBC4487E7DLe document en format XML
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Herein, we report two Chilean brothers with predominant psychiatric features at disease onset including schizophrenia‐like psychosis and obsessive compulsive disorder. Molecular genetic analysis revealed a small deletion in the XK gene (938‐942delCTCTA), which has been already described in a North American patient of Anglo‐Saxon descent and a Japanese family, presenting with seizures, muscle atrophy or chorea yet absence of psychiatric features. These findings argue against a founder effect and indicate a profound phenotypic variability associated with the 938‐942delCTCTA deletion. Our report supports the inclusion of McLeod syndrome in the differential diagnosis of Huntington's disease as well as acute psychosis in male subjects. © 2007 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Marcelo Miranda MD</name><affiliations><json:string>Department of Neurology, Clinica Las Condes, Santiago, Chile</json:string></affiliations></json:item><json:item><name>Claudia Castiglioni MD</name><affiliations><json:string>Department of Neurology, Clinica Las Condes, Santiago, Chile</json:string></affiliations></json:item><json:item><name>Beat M. Frey MD</name><affiliations><json:string>Regional Blood Transfusion Service SRC, Zürich, Switzerland</json:string></affiliations></json:item><json:item><name>Martin Hergersberg PhD</name><affiliations><json:string>Department of Molecular Biology, Cantonal Hospital Aarau, Switzerland</json:string></affiliations></json:item><json:item><name>Adrian Danek MD</name><affiliations><json:string>Neurologische Klinik, Ludwig‐Maximilians‐Universität, Munich, Germany</json:string></affiliations></json:item><json:item><name>Hans H. 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Herein, we report two Chilean brothers with predominant psychiatric features at disease onset including schizophrenia‐like psychosis and obsessive compulsive disorder. Molecular genetic analysis revealed a small deletion in the <i>XK</i> gene (938‐942delCTCTA), which has been already described in a North American patient of Anglo‐Saxon descent and a Japanese family, presenting with seizures, muscle atrophy or chorea yet absence of psychiatric features. These findings argue against a founder effect and indicate a profound phenotypic variability associated with the 938‐942delCTCTA deletion. Our report supports the inclusion of McLeod syndrome in the differential diagnosis of Huntington's disease as well as acute psychosis in male subjects. © 2007 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Phenotypic variability of a distinct deletion in McLeod syndrome</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Distinct Deletion in McLeod Syndrome</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Phenotypic variability of a distinct deletion in McLeod syndrome</title></titleInfo><name type="personal"><namePart type="given">Marcelo</namePart><namePart type="family">Miranda</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Clinica Las Condes, Santiago, Chile</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Claudia</namePart><namePart type="family">Castiglioni</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Clinica Las Condes, Santiago, Chile</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Beat M.</namePart><namePart type="family">Frey</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Regional Blood Transfusion Service SRC, Zürich, Switzerland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Martin</namePart><namePart type="family">Hergersberg</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Molecular Biology, Cantonal Hospital Aarau, Switzerland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Adrian</namePart><namePart type="family">Danek</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Neurologische Klinik, Ludwig‐Maximilians‐Universität, Munich, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hans H.</namePart><namePart type="family">Jung</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University Hospital Zürich, Switzerland</affiliation><description>Correspondence: Department of Neurology, University Hospital Zürich, 8091 Zürich, Switzerland</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2007-07-15</dateIssued><dateCaptured encoding="w3cdtf">2007-02-08</dateCaptured><dateValid encoding="w3cdtf">2007-03-21</dateValid><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">2</extent><extent unit="references">15</extent><extent unit="words">2551</extent></physicalDescription><abstract lang="en">The X‐linked McLeod neuroacanthocytosis syndrome strongly resembles Huntington's disease and has been reported in various countries world‐wide. Herein, we report two Chilean brothers with predominant psychiatric features at disease onset including schizophrenia‐like psychosis and obsessive compulsive disorder. Molecular genetic analysis revealed a small deletion in the XK gene (938‐942delCTCTA), which has been already described in a North American patient of Anglo‐Saxon descent and a Japanese family, presenting with seizures, muscle atrophy or chorea yet absence of psychiatric features. These findings argue against a founder effect and indicate a profound phenotypic variability associated with the 938‐942delCTCTA deletion. Our report supports the inclusion of McLeod syndrome in the differential diagnosis of Huntington's disease as well as acute psychosis in male subjects. © 2007 Movement Disorder Society</abstract><subject lang="en"><genre>Keywords</genre><topic>McLeod syndrome</topic><topic>neuroacanthocytosis</topic><topic>chorea</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><note type="content"> This article includes supplementary video clips, available online at http://www.interscience.wiley.com/jpages/0885‐3185/suppmat .</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>2007</date><detail type="volume"><caption>vol.</caption><number>22</number></detail><detail type="issue"><caption>no.</caption><number>9</number></detail><extent unit="pages"><start>1358</start><end>1361</end><total>4</total></extent></part></relatedItem><identifier type="istex">081D9F2C1B3ABA65C36FA3C1737726EBC4487E7D</identifier><identifier type="DOI">10.1002/mds.21536</identifier><identifier type="ArticleID">MDS21536</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2007 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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