Phenotypic variability of a distinct deletion in McLeod syndrome
Identifieur interne : 001782 ( Istex/Checkpoint ); précédent : 001781; suivant : 001783Phenotypic variability of a distinct deletion in McLeod syndrome
Auteurs : Marcelo Miranda [Chili] ; Claudia Castiglioni [Chili] ; Beat M. Frey [Suisse] ; Martin Hergersberg [Suisse] ; Adrian Danek [Allemagne] ; Hans H. Jung [Suisse]Source :
- 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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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="2007-07-15">2007-07-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1358">1358</biblScope><biblScope unit="page" to="1361">1361</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">081D9F2C1B3ABA65C36FA3C1737726EBC4487E7D</idno><idno type="DOI">10.1002/mds.21536</idno><idno type="ArticleID">MDS21536</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>McLeod syndrome</term><term>chorea</term><term>neuroacanthocytosis</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml: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</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Chili</li><li>Suisse</li></country><region><li>Bavière</li><li>Canton de Zurich</li><li>District de Haute-Bavière</li></region><settlement><li>Munich</li><li>Zurich</li></settlement></list><tree><country name="Chili"><noRegion><name sortKey="Miranda, Marcelo" sort="Miranda, Marcelo" uniqKey="Miranda M" first="Marcelo" last="Miranda">Marcelo Miranda</name></noRegion><name sortKey="Castiglioni, Claudia" sort="Castiglioni, Claudia" uniqKey="Castiglioni C" first="Claudia" last="Castiglioni">Claudia Castiglioni</name></country><country name="Suisse"><region name="Canton de Zurich"><name sortKey="Frey, Beat M" sort="Frey, Beat M" uniqKey="Frey B" first="Beat M." last="Frey">Beat M. Frey</name></region><name sortKey="Hergersberg, Martin" sort="Hergersberg, Martin" uniqKey="Hergersberg M" first="Martin" last="Hergersberg">Martin Hergersberg</name><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H." last="Jung">Hans H. Jung</name></country><country name="Allemagne"><region name="Bavière"><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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