MovDisordV3, PascalFrancis, Curation, bibRecord, 001720

Phenotypic variability of a distinct deletion in mcleod syndrome

Identifieur interne : 001720 ( PascalFrancis/Curation ); précédent : 001719; suivant : 001721

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.

A01	`01`	`1`		`@0 0885-3185`
A03		`1`		`@0 Mov. disord.`
A05				`@2 22`
A06				`@2 9`
A08	`01`	`1`	`ENG`	`@1 Phenotypic variability of a distinct deletion in mcleod syndrome`
A11	`01`	`1`		`@1 MIRANDA (Marcelo)`
A11	`02`	`1`		`@1 CASTIGLIONI (Claudia)`
A11	`03`	`1`		`@1 FREY (Beat M.)`
A11	`04`	`1`		`@1 HERGERSBERG (Martin)`
A11	`05`	`1`		`@1 DANEK (Adrian)`
A11	`06`	`1`		`@1 JUNG (Hans H.)`
A14	`01`			`@1 Department of Neurology, Clinica Las Condes @2 Santiago @3 CHL @Z 1 aut. @Z 2 aut.`
A14	`02`			`@1 Regional Blood Transfusion Service SRC @2 Zürich @3 CHE @Z 3 aut.`
A14	`03`			`@1 Department of Molecular Biology, Cantonal Hospital Aarau @3 CHE @Z 4 aut.`
A14	`04`			`@1 Neurologische Klinik, Ludwig-Maximilians-Universität @2 Munich @3 DEU @Z 5 aut.`
A14	`05`			`@1 Department of Neurology, University Hospital Zürich @3 CHE @Z 6 aut.`
A20				`@1 1358-1361`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000146732490280`
A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
A45				`@0 15 ref.`
A47	`01`	`1`		`@0 07-0391095`
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A61				`@0 A`
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C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17D`
C02	`03`	`X`		`@0 002B17G`
C03	`01`	`X`	`FRE`	`@0 Système nerveux pathologie @5 01`
C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Délétion @5 02`
C03	`02`	`X`	`ENG`	`@0 Deletion @5 02`
C03	`02`	`X`	`SPA`	`@0 Deleción @5 02`
C03	`03`	`X`	`FRE`	`@0 Chorée syndrome @5 03`
C03	`03`	`X`	`ENG`	`@0 Chorea @5 03`
C03	`03`	`X`	`SPA`	`@0 Corea síndrome @5 03`
C03	`04`	`X`	`FRE`	`@0 Variabilité @5 09`
C03	`04`	`X`	`ENG`	`@0 Variability @5 09`
C03	`04`	`X`	`SPA`	`@0 Variabilidad @5 09`
C03	`05`	`X`	`FRE`	`@0 Caractère lié au sexe @5 78`
C03	`05`	`X`	`ENG`	`@0 Sex linked character @5 78`
C03	`05`	`X`	`SPA`	`@0 Carácter ligado al sexo @5 78`
C03	`06`	`X`	`FRE`	`@0 Syndrome de MacLeod @4 CD @5 96`
C03	`06`	`X`	`ENG`	`@0 MacLeod syndrome @4 CD @5 96`
C03	`06`	`X`	`SPA`	`@0 Síndrome de MacLeod @4 CD @5 96`
C07	`01`	`X`	`FRE`	`@0 Hémopathie @5 37`
C07	`01`	`X`	`ENG`	`@0 Hemopathy @5 37`
C07	`01`	`X`	`SPA`	`@0 Hemopatía @5 37`
C07	`02`	`X`	`FRE`	`@0 Neuromusculaire pathologie @5 38`
C07	`02`	`X`	`ENG`	`@0 Neuromuscular diseases @5 38`
C07	`02`	`X`	`SPA`	`@0 Neuromuscular patología @5 38`
C07	`03`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 39`
C07	`03`	`X`	`ENG`	`@0 Central nervous system disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 39`
C07	`04`	`X`	`FRE`	`@0 Encéphale pathologie @5 40`
C07	`04`	`X`	`ENG`	`@0 Cerebral disorder @5 40`
C07	`04`	`X`	`SPA`	`@0 Encéfalo patología @5 40`
C07	`05`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 41`
C07	`05`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 41`
C07	`05`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 41`
C07	`06`	`X`	`FRE`	`@0 Mouvement involontaire @5 42`
C07	`06`	`X`	`ENG`	`@0 Involuntary movement @5 42`
C07	`06`	`X`	`SPA`	`@0 Movimiento involuntario @5 42`
C07	`07`	`X`	`FRE`	`@0 Trouble neurologique @5 43`
C07	`07`	`X`	`ENG`	`@0 Neurological disorder @5 43`
C07	`07`	`X`	`SPA`	`@0 Trastorno neurológico @5 43`
N21				`@1 253`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Pascal:07-0391095

Le document en format XML

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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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<fC01 i1="01" l="ENG"><s0>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.</s0>
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<fC03 i1="02" i2="X" l="SPA"><s0>Deleción</s0>
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<s5>03</s5>
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<s4>CD</s4>
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<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>43</s5>
</fC07>
<fN21><s1>253</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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   |texte=   Phenotypic variability of a distinct deletion in mcleod syndrome
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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

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