MovDisordV3, PascalFrancis, Corpus, bibRecord, 001529

ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism

Identifieur interne : 001529 ( PascalFrancis/Corpus ); précédent : 001528; suivant : 001530

ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism

Auteurs : Jee-Young Lee ; Seema Gollamudi ; Laurie J. Ozelius ; Ji-Young Kim ; Beom S. Jeon

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0491133

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Dystonie, Parkinsonisme, Mutation ponctuelle.

English descriptors

KwdEn :
- Dystonia, Nervous system diseases, Parkinsonism, Point mutation.

Abstract

We report a 38-year-old Korean man with sporadic rapid-onset dystonia-parkinsonism (RDP), who had a Thr 618 Met mutation in the Na⁺/K⁺-ATPase a3 subunit gene (ATPIA3). At the age of 21, he acutely developed severe dystonia and parkinsonism, which rapidly deteriorated into a wheelchair-bound state within 4 days. He is the first Asian RDP patient confirmed by genetic testing, ascertaining that RDP gene mutation is present in Asians. Pathophysiological considerations are briefly discussed.

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 12`
A08	`01`	`1`	`ENG`	`@1 ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism`
A11	`01`	`1`		`@1 LEE (Jee-Young)`
A11	`02`	`1`		`@1 GOLLAMUDI (Seema)`
A11	`03`	`1`		`@1 OZELIUS (Laurie J.)`
A11	`04`	`1`		`@1 KIM (Ji-Young)`
A11	`05`	`1`		`@1 JEON (Beom S.)`
A14	`01`			`@1 Department of Neurology, Seoul National University Hospital @2 Seoul @3 KOR @Z 1 aut. @Z 4 aut. @Z 5 aut.`
A14	`02`			`@1 MRC, College of Medicine, Seoul National University @2 Seoul @3 KOR @Z 1 aut. @Z 4 aut. @Z 5 aut.`
A14	`03`			`@1 Department of Molecular Genetics, Albert Einstein College of Medicine @2 New York @3 USA @Z 2 aut. @Z 3 aut.`
A20				`@1 1808-1809`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000143464810200`
A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
A45				`@0 8 ref.`
A47	`01`	`1`		`@0 07-0491133`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	`@0 We report a 38-year-old Korean man with sporadic rapid-onset dystonia-parkinsonism (RDP), who had a Thr 618 Met mutation in the Na⁺/K⁺-ATPase a3 subunit gene (ATPIA3). At the age of 21, he acutely developed severe dystonia and parkinsonism, which rapidly deteriorated into a wheelchair-bound state within 4 days. He is the first Asian RDP patient confirmed by genetic testing, ascertaining that RDP gene mutation is present in Asians. Pathophysiological considerations are briefly discussed.`
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17H`
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 Dystonie @5 02`
C03	`02`	`X`	`ENG`	`@0 Dystonia @5 02`
C03	`02`	`X`	`SPA`	`@0 Distonía @5 02`
C03	`03`	`X`	`FRE`	`@0 Parkinsonisme @2 NM @5 03`
C03	`03`	`X`	`ENG`	`@0 Parkinsonism @2 NM @5 03`
C03	`03`	`X`	`SPA`	`@0 Parkinson síndrome @2 NM @5 03`
C03	`04`	`X`	`FRE`	`@0 Mutation ponctuelle @5 09`
C03	`04`	`X`	`ENG`	`@0 Point mutation @5 09`
C03	`04`	`X`	`SPA`	`@0 Mutación puntual @5 09`
C07	`01`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 37`
C07	`01`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 37`
C07	`01`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 37`
C07	`02`	`X`	`FRE`	`@0 Mouvement involontaire @5 38`
C07	`02`	`X`	`ENG`	`@0 Involuntary movement @5 38`
C07	`02`	`X`	`SPA`	`@0 Movimiento involuntario @5 38`
C07	`03`	`X`	`FRE`	`@0 Muscle strié pathologie @5 39`
C07	`03`	`X`	`ENG`	`@0 Striated muscle disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Músculo estriado patología @5 39`
C07	`04`	`X`	`FRE`	`@0 Trouble neurologique @5 40`
C07	`04`	`X`	`ENG`	`@0 Neurological disorder @5 40`
C07	`04`	`X`	`SPA`	`@0 Trastorno neurológico @5 40`
C07	`05`	`X`	`FRE`	`@0 Encéphale pathologie @5 41`
C07	`05`	`X`	`ENG`	`@0 Cerebral disorder @5 41`
C07	`05`	`X`	`SPA`	`@0 Encéfalo patología @5 41`
C07	`06`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 42`
C07	`06`	`X`	`ENG`	`@0 Central nervous system disease @5 42`
C07	`06`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 42`
N21				`@1 323`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 07-0491133 INIST
ET :	ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism
AU :	LEE (Jee-Young); GOLLAMUDI (Seema); OZELIUS (Laurie J.); KIM (Ji-Young); JEON (Beom S.)
AF :	Department of Neurology, Seoul National University Hospital/Seoul/Corée, République de (1 aut., 4 aut., 5 aut.); MRC, College of Medicine, Seoul National University/Seoul/Corée, République de (1 aut., 4 aut., 5 aut.); Department of Molecular Genetics, Albert Einstein College of Medicine/New York/Etats-Unis (2 aut., 3 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 12; Pp. 1808-1809; Bibl. 8 ref.
LA :	Anglais
EA :	We report a 38-year-old Korean man with sporadic rapid-onset dystonia-parkinsonism (RDP), who had a Thr 618 Met mutation in the Na⁺/K⁺-ATPase a3 subunit gene (ATPIA3). At the age of 21, he acutely developed severe dystonia and parkinsonism, which rapidly deteriorated into a wheelchair-bound state within 4 days. He is the first Asian RDP patient confirmed by genetic testing, ascertaining that RDP gene mutation is present in Asians. Pathophysiological considerations are briefly discussed.
CC :	002B17; 002B17H; 002B17G
FD :	Système nerveux pathologie; Dystonie; Parkinsonisme; Mutation ponctuelle
FG :	Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Encéphale pathologie; Système nerveux central pathologie
ED :	Nervous system diseases; Dystonia; Parkinsonism; Point mutation
EG :	Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease
SD :	Sistema nervioso patología; Distonía; Parkinson síndrome; Mutación puntual
LO :	INIST-20953.354000143464810200
ID :	07-0491133

Links to Exploration step

Pascal:07-0491133

Le document en format XML

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<front><div type="abstract" xml:lang="en">We report a 38-year-old Korean man with sporadic rapid-onset dystonia-parkinsonism (RDP), who had a Thr 618 Met mutation in the Na<sup>+</sup>
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<fA14 i1="02"><s1>MRC, College of Medicine, Seoul National University</s1>
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<fC01 i1="01" l="ENG"><s0>We report a 38-year-old Korean man with sporadic rapid-onset dystonia-parkinsonism (RDP), who had a Thr 618 Met mutation in the Na<sup>+</sup>
/K<sup>+</sup>
-ATPase a3 subunit gene (ATPIA3). At the age of 21, he acutely developed severe dystonia and parkinsonism, which rapidly deteriorated into a wheelchair-bound state within 4 days. He is the first Asian RDP patient confirmed by genetic testing, ascertaining that RDP gene mutation is present in Asians. Pathophysiological considerations are briefly discussed.</s0>
</fC01>
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<s5>02</s5>
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<s2>NM</s2>
<s5>03</s5>
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<fC03 i1="03" i2="X" l="ENG"><s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>03</s5>
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<s2>NM</s2>
<s5>03</s5>
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<s5>09</s5>
</fC03>
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<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Mutación puntual</s0>
<s5>09</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
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<s5>37</s5>
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<s5>38</s5>
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<s5>38</s5>
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<s5>39</s5>
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<fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0>
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<s5>40</s5>
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<s5>41</s5>
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<s5>41</s5>
</fC07>
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<s5>42</s5>
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<s5>42</s5>
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<s5>42</s5>
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<fN21><s1>323</s1>
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<server><NO>PASCAL 07-0491133 INIST</NO>
<ET>ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism</ET>
<AU>LEE (Jee-Young); GOLLAMUDI (Seema); OZELIUS (Laurie J.); KIM (Ji-Young); JEON (Beom S.)</AU>
<AF>Department of Neurology, Seoul National University Hospital/Seoul/Corée, République de (1 aut., 4 aut., 5 aut.); MRC, College of Medicine, Seoul National University/Seoul/Corée, République de (1 aut., 4 aut., 5 aut.); Department of Molecular Genetics, Albert Einstein College of Medicine/New York/Etats-Unis (2 aut., 3 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. 12; Pp. 1808-1809; Bibl. 8 ref.</SO>
<LA>Anglais</LA>
<EA>We report a 38-year-old Korean man with sporadic rapid-onset dystonia-parkinsonism (RDP), who had a Thr 618 Met mutation in the Na<sup>+</sup>
/K<sup>+</sup>
-ATPase a3 subunit gene (ATPIA3). At the age of 21, he acutely developed severe dystonia and parkinsonism, which rapidly deteriorated into a wheelchair-bound state within 4 days. He is the first Asian RDP patient confirmed by genetic testing, ascertaining that RDP gene mutation is present in Asians. Pathophysiological considerations are briefly discussed.</EA>
<CC>002B17; 002B17H; 002B17G</CC>
<FD>Système nerveux pathologie; Dystonie; Parkinsonisme; Mutation ponctuelle</FD>
<FG>Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Encéphale pathologie; Système nerveux central pathologie</FG>
<ED>Nervous system diseases; Dystonia; Parkinsonism; Point mutation</ED>
<EG>Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Distonía; Parkinson síndrome; Mutación puntual</SD>
<LO>INIST-20953.354000143464810200</LO>
<ID>07-0491133</ID>
</server>
</inist>
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	Movement Disorders (revue)
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Movement Disorders (revue)

ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism

ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism

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