MovDisordV3, Main, Merge, bibRecord, 004125

Phenotypic variability of a distinct deletion in mcleod syndrome

Identifieur interne : 004125 ( Main/Merge ); précédent : 004124; suivant : 004126

Phenotypic 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.

RBID : Pascal:07-0391095

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Délétion, Chorée syndrome, Variabilité, Caractère lié au sexe, Syndrome de MacLeod.

English descriptors

KwdEn :
- Chorea, Deletion, MacLeod syndrome, Nervous system diseases, Sex linked character, Variability.

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.

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Pascal:07-0391095

Le 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>
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<country>Chili</country>
<wicri:noRegion>Santiago</wicri:noRegion>
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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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<sZ>2 aut.</sZ>
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<wicri:noRegion>Santiago</wicri:noRegion>
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</author>
<author><name sortKey="Castiglioni, Claudia" sort="Castiglioni, Claudia" uniqKey="Castiglioni C" first="Claudia" last="Castiglioni">Claudia Castiglioni</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Clinica Las Condes</s1>
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<sZ>2 aut.</sZ>
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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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<s3>DEU</s3>
<sZ>5 aut.</sZ>
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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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<term>Variability</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Délétion</term>
<term>Chorée syndrome</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>
</front>
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<name sortKey="Hergersberg, Martin" sort="Hergersberg, Martin" uniqKey="Hergersberg M" first="Martin" last="Hergersberg">Martin Hergersberg</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Phenotypic variability of a distinct deletion in mcleod syndrome

Phenotypic variability of a distinct deletion in mcleod syndrome

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri