Phenotypic variability of a distinct deletion in McLeod syndrome.
Identifieur interne : 001B81 ( Ncbi/Checkpoint ); précédent : 001B80; suivant : 001B82Phenotypic variability of a distinct deletion in McLeod syndrome.
Auteurs : Marcelo Miranda [Chili] ; Claudia Castiglioni ; Beat M. Frey ; Martin Hergersberg ; Adrian Danek ; Hans H. JungSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2007.
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, Middle Aged, Phenotype, Sequence Deletion, Siblings, Tomography, X-Ray Computed (methods).
- 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.
DOI: 10.1002/mds.21536
PubMed: 17469188
Affiliations:
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pubmed:17469188Le document en format XML
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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. 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><affiliations><list><country><li>Chili</li></country></list><tree><noCountry><name sortKey="Castiglioni, Claudia" sort="Castiglioni, Claudia" uniqKey="Castiglioni C" first="Claudia" last="Castiglioni">Claudia Castiglioni</name><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name><name sortKey="Frey, Beat M" sort="Frey, Beat M" uniqKey="Frey B" first="Beat M" last="Frey">Beat M. Frey</name><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></noCountry><country name="Chili"><noRegion><name sortKey="Miranda, Marcelo" sort="Miranda, Marcelo" uniqKey="Miranda M" first="Marcelo" last="Miranda">Marcelo Miranda</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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