MovDisordV3, PascalFrancis, Corpus, bibRecord, 001601

Phenotypic variability of a distinct deletion in mcleod syndrome

Identifieur interne : 001601 ( PascalFrancis/Corpus ); précédent : 001600; suivant : 001602

Phenotypic variability of a distinct deletion in mcleod syndrome

Auteurs : Marcelo Miranda ; Claudia Castiglioni ; Beat M. Frey ; Martin Hergersberg ; Adrian Danek ; Hans H. Jung

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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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`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
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`

Format Inist (serveur)

NO :	PASCAL 07-0391095 INIST
ET :	Phenotypic variability of a distinct deletion in mcleod syndrome
AU :	MIRANDA (Marcelo); CASTIGLIONI (Claudia); FREY (Beat M.); HERGERSBERG (Martin); DANEK (Adrian); JUNG (Hans H.)
AF :	Department of Neurology, Clinica Las Condes/Santiago/Chili (1 aut., 2 aut.); Regional Blood Transfusion Service SRC/Zürich/Suisse (3 aut.); Department of Molecular Biology, Cantonal Hospital Aarau/Suisse (4 aut.); Neurologische Klinik, Ludwig-Maximilians-Universität/Mun ich/Allemagne (5 aut.); Department of Neurology, University Hospital Zürich/Suisse (6 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 9; Pp. 1358-1361; Bibl. 15 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17D; 002B17G
FD :	Système nerveux pathologie; Délétion; Chorée syndrome; Variabilité; Caractère lié au sexe; Syndrome de MacLeod
FG :	Hémopathie; Neuromusculaire pathologie; Système nerveux central pathologie; Encéphale pathologie; Extrapyramidal syndrome; Mouvement involontaire; Trouble neurologique
ED :	Nervous system diseases; Deletion; Chorea; Variability; Sex linked character; MacLeod syndrome
EG :	Hemopathy; Neuromuscular diseases; Central nervous system disease; Cerebral disorder; Extrapyramidal syndrome; Involuntary movement; Neurological disorder
SD :	Sistema nervioso patología; Deleción; Corea síndrome; Variabilidad; Carácter ligado al sexo; Síndrome de MacLeod
LO :	INIST-20953.354000146732490280
ID :	07-0391095

Links to Exploration step

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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<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Hemopathy</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Hemopatía</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Neuromusculaire pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Neuromuscular diseases</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Neuromuscular patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<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>
<server><NO>PASCAL 07-0391095 INIST</NO>
<ET>Phenotypic variability of a distinct deletion in mcleod syndrome</ET>
<AU>MIRANDA (Marcelo); CASTIGLIONI (Claudia); FREY (Beat M.); HERGERSBERG (Martin); DANEK (Adrian); JUNG (Hans H.)</AU>
<AF>Department of Neurology, Clinica Las Condes/Santiago/Chili (1 aut., 2 aut.); Regional Blood Transfusion Service SRC/Zürich/Suisse (3 aut.); Department of Molecular Biology, Cantonal Hospital Aarau/Suisse (4 aut.); Neurologische Klinik, Ludwig-Maximilians-Universität/Mun ich/Allemagne (5 aut.); Department of Neurology, University Hospital Zürich/Suisse (6 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 9; Pp. 1358-1361; Bibl. 15 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17D; 002B17G</CC>
<FD>Système nerveux pathologie; Délétion; Chorée syndrome; Variabilité; Caractère lié au sexe; Syndrome de MacLeod</FD>
<FG>Hémopathie; Neuromusculaire pathologie; Système nerveux central pathologie; Encéphale pathologie; Extrapyramidal syndrome; Mouvement involontaire; Trouble neurologique</FG>
<ED>Nervous system diseases; Deletion; Chorea; Variability; Sex linked character; MacLeod syndrome</ED>
<EG>Hemopathy; Neuromuscular diseases; Central nervous system disease; Cerebral disorder; Extrapyramidal syndrome; Involuntary movement; Neurological disorder</EG>
<SD>Sistema nervioso patología; Deleción; Corea síndrome; Variabilidad; Carácter ligado al sexo; Síndrome de MacLeod</SD>
<LO>INIST-20953.354000146732490280</LO>
<ID>07-0391095</ID>
</server>
</inist>
</record>

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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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