Phenotypic variability of a distinct deletion in McLeod syndrome.
Identifieur interne : 001B81 ( Ncbi/Curation ); 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
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002758
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :002758
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :002645
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :001B81
Links to Exploration step
pubmed:17469188Le document en format XML
<record><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>
</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>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001B81 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 001B81 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Ncbi |étape= Curation |type= RBID |clé= pubmed:17469188 |texte= Phenotypic variability of a distinct deletion in McLeod syndrome. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:17469188" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
![]() | This area was generated with Dilib version V0.6.23. | ![]() |