Phenotypic variability of a distinct deletion in McLeod syndrome
Identifieur interne : 003B96 ( Main/Merge ); précédent : 003B95; suivant : 003B97Phenotypic 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.
English descriptors
- KwdEn :
- Amino Acid Transport Systems, Neutral (genetics), Chorea (complications), Chorea (genetics), Chorea (pathology), DNA Mutational Analysis, Genetic Diseases, X-Linked (complications), Genetic Diseases, X-Linked (genetics), Genetic Diseases, X-Linked (pathology), Humans, Magnetic Resonance Imaging (methods), Male, McLeod syndrome, Middle Aged, Phenotype, Sequence Deletion, Siblings, Tomography, X-Ray Computed (methods), chorea, neuroacanthocytosis.
- MESH :
- chemical , genetics : Amino Acid Transport Systems, Neutral.
- complications : Chorea, Genetic Diseases, X-Linked.
- genetics : Chorea, Genetic Diseases, X-Linked.
- methods : Magnetic Resonance Imaging, Tomography, X-Ray Computed.
- pathology : Chorea, Genetic Diseases, X-Linked.
- DNA Mutational Analysis, Humans, Male, Middle Aged, Phenotype, Sequence Deletion, Siblings.
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
Url:
DOI: 10.1002/mds.21536
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Frey</name></author><author><name sortKey="Hergersberg, Martin" sort="Hergersberg, Martin" uniqKey="Hergersberg M" first="Martin" last="Hergersberg">Martin Hergersberg</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H." last="Jung">Hans H. 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Frey</name><affiliation wicri:level="3"><country xml:lang="fr">Suisse</country><wicri:regionArea>Regional Blood Transfusion Service SRC, Zürich</wicri:regionArea><placeName><settlement type="city">Zurich</settlement><region nuts="3" type="region">Canton de Zurich</region></placeName></affiliation></author><author><name sortKey="Hergersberg, Martin" sort="Hergersberg, Martin" uniqKey="Hergersberg M" first="Martin" last="Hergersberg">Martin Hergersberg</name><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Molecular Biology, Cantonal Hospital Aarau</wicri:regionArea><wicri:noRegion>Cantonal Hospital Aarau</wicri:noRegion></affiliation></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neurologische Klinik, Ludwig‐Maximilians‐Universität, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H." last="Jung">Hans H. Jung</name><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Neurology, University Hospital Zürich</wicri:regionArea><wicri:noRegion>University Hospital Zürich</wicri:noRegion></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="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>Amino Acid Transport Systems, Neutral (genetics)</term><term>Chorea (complications)</term><term>Chorea (genetics)</term><term>Chorea (pathology)</term><term>DNA Mutational Analysis</term><term>Genetic Diseases, X-Linked (complications)</term><term>Genetic Diseases, X-Linked (genetics)</term><term>Genetic Diseases, X-Linked (pathology)</term><term>Humans</term><term>Magnetic Resonance Imaging (methods)</term><term>Male</term><term>McLeod syndrome</term><term>Middle Aged</term><term>Phenotype</term><term>Sequence Deletion</term><term>Siblings</term><term>Tomography, X-Ray Computed (methods)</term><term>chorea</term><term>neuroacanthocytosis</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Amino Acid Transport Systems, Neutral</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Chorea</term><term>Genetic Diseases, X-Linked</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term><term>Genetic Diseases, X-Linked</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Magnetic Resonance Imaging</term><term>Tomography, X-Ray Computed</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Chorea</term><term>Genetic Diseases, X-Linked</term></keywords><keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term><term>Sequence Deletion</term><term>Siblings</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><double doi="10.1002/mds.21536"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Phenotypic variability of a distinct deletion in McLeod syndrome</title><author><name sortKey="Miranda, Marcelo" sort="Miranda, Marcelo" uniqKey="Miranda M" first="Marcelo" last="Miranda">Marcelo Miranda</name></author><author><name sortKey="Castiglioni, Claudia" sort="Castiglioni, Claudia" uniqKey="Castiglioni C" first="Claudia" last="Castiglioni">Claudia Castiglioni</name></author><author><name sortKey="Frey, Beat M" sort="Frey, Beat M" uniqKey="Frey B" first="Beat M." last="Frey">Beat M. Frey</name></author><author><name sortKey="Hergersberg, Martin" sort="Hergersberg, Martin" uniqKey="Hergersberg M" first="Martin" last="Hergersberg">Martin Hergersberg</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H." last="Jung">Hans H. 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Frey</name><affiliation wicri:level="3"><country xml:lang="fr">Suisse</country><wicri:regionArea>Regional Blood Transfusion Service SRC, Zürich</wicri:regionArea><placeName><settlement type="city">Zurich</settlement><region nuts="3" type="region">Canton de Zurich</region></placeName></affiliation></author><author><name sortKey="Hergersberg, Martin" sort="Hergersberg, Martin" uniqKey="Hergersberg M" first="Martin" last="Hergersberg">Martin Hergersberg</name><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Molecular Biology, Cantonal Hospital Aarau</wicri:regionArea><wicri:noRegion>Cantonal Hospital Aarau</wicri:noRegion></affiliation></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neurologische Klinik, Ludwig‐Maximilians‐Universität, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H." last="Jung">Hans H. Jung</name><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Neurology, University Hospital Zürich</wicri:regionArea><wicri:noRegion>University Hospital Zürich</wicri:noRegion></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="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></ISTEX><PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Phenotypic variability of a distinct deletion in McLeod syndrome.</title><author><name sortKey="Miranda, Marcelo" sort="Miranda, Marcelo" uniqKey="Miranda M" first="Marcelo" last="Miranda">Marcelo Miranda</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Clinica Las Condes, Santiago, Chile.</nlm:affiliation><country xml:lang="fr">Chili</country><wicri:regionArea>Department of Neurology, Clinica Las Condes, Santiago</wicri:regionArea><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Castiglioni, Claudia" sort="Castiglioni, Claudia" uniqKey="Castiglioni C" first="Claudia" last="Castiglioni">Claudia Castiglioni</name></author><author><name sortKey="Frey, Beat M" sort="Frey, Beat M" uniqKey="Frey B" first="Beat M" last="Frey">Beat M. Frey</name></author><author><name sortKey="Hergersberg, Martin" sort="Hergersberg, Martin" uniqKey="Hergersberg M" first="Martin" last="Hergersberg">Martin Hergersberg</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H" last="Jung">Hans H. Jung</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21536</idno><idno type="RBID">pubmed:17469188</idno><idno type="pmid">17469188</idno><idno type="wicri:Area/PubMed/Corpus">002758</idno><idno type="wicri:Area/PubMed/Curation">002758</idno><idno type="wicri:Area/PubMed/Checkpoint">002645</idno><idno type="wicri:Area/Ncbi/Merge">001B81</idno><idno type="wicri:Area/Ncbi/Curation">001B81</idno><idno type="wicri:Area/Ncbi/Checkpoint">001B81</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Phenotypic variability of a distinct deletion in McLeod syndrome.</title><author><name sortKey="Miranda, Marcelo" sort="Miranda, Marcelo" uniqKey="Miranda M" first="Marcelo" last="Miranda">Marcelo Miranda</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Clinica Las Condes, Santiago, Chile.</nlm:affiliation><country xml:lang="fr">Chili</country><wicri:regionArea>Department of Neurology, Clinica Las Condes, Santiago</wicri:regionArea><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Castiglioni, Claudia" sort="Castiglioni, Claudia" uniqKey="Castiglioni C" first="Claudia" last="Castiglioni">Claudia Castiglioni</name></author><author><name sortKey="Frey, Beat M" sort="Frey, Beat M" uniqKey="Frey B" first="Beat M" last="Frey">Beat M. Frey</name></author><author><name sortKey="Hergersberg, Martin" sort="Hergersberg, Martin" uniqKey="Hergersberg M" first="Martin" last="Hergersberg">Martin Hergersberg</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H" last="Jung">Hans H. Jung</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amino Acid Transport Systems, Neutral (genetics)</term><term>Chorea (complications)</term><term>Chorea (genetics)</term><term>Chorea (pathology)</term><term>DNA Mutational Analysis</term><term>Genetic Diseases, X-Linked (complications)</term><term>Genetic Diseases, X-Linked (genetics)</term><term>Genetic Diseases, X-Linked (pathology)</term><term>Humans</term><term>Magnetic Resonance Imaging (methods)</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term><term>Sequence Deletion</term><term>Siblings</term><term>Tomography, X-Ray Computed (methods)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Amino Acid Transport Systems, Neutral</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Chorea</term><term>Genetic Diseases, X-Linked</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term><term>Genetic Diseases, X-Linked</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Magnetic Resonance Imaging</term><term>Tomography, X-Ray Computed</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Chorea</term><term>Genetic Diseases, X-Linked</term></keywords><keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term><term>Sequence Deletion</term><term>Siblings</term></keywords></textClass></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.</div></front></TEI></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
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