Phenotypic variability of a distinct deletion in McLeod syndrome.
Identifieur interne : 002758 ( PubMed/Corpus ); précédent : 002757; suivant : 002759Phenotypic 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 : 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
Links to Exploration step
pubmed:17469188Le document en format XML
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<author><name sortKey="Miranda, Marcelo" sort="Miranda, Marcelo" uniqKey="Miranda M" first="Marcelo" last="Miranda">Marcelo Miranda</name>
<affiliation><nlm:affiliation>Department of Neurology, Clinica Las Condes, Santiago, Chile.</nlm:affiliation>
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<author><name sortKey="Castiglioni, Claudia" sort="Castiglioni, Claudia" uniqKey="Castiglioni C" first="Claudia" last="Castiglioni">Claudia Castiglioni</name>
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<author><name sortKey="Frey, Beat M" sort="Frey, Beat M" uniqKey="Frey B" first="Beat M" last="Frey">Beat M. Frey</name>
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<author><name sortKey="Hergersberg, Martin" sort="Hergersberg, Martin" uniqKey="Hergersberg M" first="Martin" last="Hergersberg">Martin Hergersberg</name>
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<author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name>
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<author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H" last="Jung">Hans H. Jung</name>
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<author><name sortKey="Miranda, Marcelo" sort="Miranda, Marcelo" uniqKey="Miranda M" first="Marcelo" last="Miranda">Marcelo Miranda</name>
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<author><name sortKey="Frey, Beat M" sort="Frey, Beat M" uniqKey="Frey B" first="Beat M" last="Frey">Beat M. Frey</name>
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<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>
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<term>Humans</term>
<term>Magnetic Resonance Imaging (methods)</term>
<term>Male</term>
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<term>Phenotype</term>
<term>Sequence Deletion</term>
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<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>
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<Abstract><AbstractText>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.</AbstractText>
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