MovDisordV3, PascalFrancis, Corpus, bibRecord, 002835

Late-onset axial jerky dystonia due to the DYT1 deletion

Identifieur interne : 002835 ( PascalFrancis/Corpus ); précédent : 002834; suivant : 002836

Late-onset axial jerky dystonia due to the DYT1 deletion

Auteurs : Patrick F. Chinnery ; Paul J. Reading ; Emma L. Mccarthy ; Ann Curtis ; David J. Burn

Source :

Movement disorders [ 0885-3185 ] ; 2002.

RBID : Pascal:02-0204638

Descripteurs français

Pascal (Inist)
- Dystonie, Myoclonie, Phénotype, Délétion, Age apparition, Etude cas, Déterminisme génétique, Evolution, Personne âgée, Femelle, Gène DYT1.

English descriptors

KwdEn :
- Age of onset, Case study, Deletion, Dystonia, Elderly, Evolution, Female, Genetic determinism, Myoclonus, Phenotype.

Abstract

We describe a 71-year-old woman who presented to the neurology department late in life with a jerky axial dystonia due to the DYTI GAG deletion. She recalled that her symptoms began 62 years prior to study and remained unchanged for 40 years, illustrating the broad phenotype of DYT1 idiopathic torsion dystonia.

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 17`
A06				`@2 1`
A08	`01`	`1`	`ENG`	`@1 Late-onset axial jerky dystonia due to the DYT1 deletion`
A11	`01`	`1`		`@1 CHINNERY (Patrick F.)`
A11	`02`	`1`		`@1 READING (Paul J.)`
A11	`03`	`1`		`@1 MCCARTHY (Emma L.)`
A11	`04`	`1`		`@1 CURTIS (Ann)`
A11	`05`	`1`		`@1 BURN (David J.)`
A14	`01`			`@1 Department of Neurology, The University of Newcastle upon Tyne @3 GBR @Z 1 aut. @Z 2 aut.`
A14	`02`			`@1 Department of Human Genetics, The University of Newcastle upon Tyne @3 GBR @Z 3 aut. @Z 4 aut. @Z 5 aut.`
A20				`@1 196-198`
A21				`@1 2002`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000100147290340`
A44				`@0 0000 @1 © 2002 INIST-CNRS. All rights reserved.`
A45				`@0 8 ref.`
A47	`01`	`1`		`@0 02-0204638`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	`@0 We describe a 71-year-old woman who presented to the neurology department late in life with a jerky axial dystonia due to the DYTI GAG deletion. She recalled that her symptoms began 62 years prior to study and remained unchanged for 40 years, illustrating the broad phenotype of DYT1 idiopathic torsion dystonia.`
C02	`01`	`X`		`@0 002B17H`
C03	`01`	`X`	`FRE`	`@0 Dystonie @5 01`
C03	`01`	`X`	`ENG`	`@0 Dystonia @5 01`
C03	`01`	`X`	`SPA`	`@0 Distonía @5 01`
C03	`02`	`X`	`FRE`	`@0 Myoclonie @5 02`
C03	`02`	`X`	`ENG`	`@0 Myoclonus @5 02`
C03	`02`	`X`	`SPA`	`@0 Mioclonia @5 02`
C03	`03`	`X`	`FRE`	`@0 Phénotype @5 04`
C03	`03`	`X`	`ENG`	`@0 Phenotype @5 04`
C03	`03`	`X`	`SPA`	`@0 Fenotipo @5 04`
C03	`04`	`X`	`FRE`	`@0 Délétion @5 07`
C03	`04`	`X`	`ENG`	`@0 Deletion @5 07`
C03	`04`	`X`	`SPA`	`@0 Deleción @5 07`
C03	`05`	`X`	`FRE`	`@0 Age apparition @5 10`
C03	`05`	`X`	`ENG`	`@0 Age of onset @5 10`
C03	`05`	`X`	`SPA`	`@0 Edad aparición @5 10`
C03	`06`	`X`	`FRE`	`@0 Etude cas @5 17`
C03	`06`	`X`	`ENG`	`@0 Case study @5 17`
C03	`06`	`X`	`SPA`	`@0 Estudio caso @5 17`
C03	`07`	`X`	`FRE`	`@0 Déterminisme génétique @5 18`
C03	`07`	`X`	`ENG`	`@0 Genetic determinism @5 18`
C03	`07`	`X`	`SPA`	`@0 Determinismo genético @5 18`
C03	`08`	`X`	`FRE`	`@0 Evolution @5 19`
C03	`08`	`X`	`ENG`	`@0 Evolution @5 19`
C03	`08`	`X`	`SPA`	`@0 Evolución @5 19`
C03	`09`	`X`	`FRE`	`@0 Personne âgée @5 20`
C03	`09`	`X`	`ENG`	`@0 Elderly @5 20`
C03	`09`	`X`	`SPA`	`@0 Anciano @5 20`
C03	`10`	`X`	`FRE`	`@0 Femelle @5 21`
C03	`10`	`X`	`ENG`	`@0 Female @5 21`
C03	`10`	`X`	`SPA`	`@0 Hembra @5 21`
C03	`11`	`X`	`FRE`	`@0 Gène DYT1 @4 INC @5 86`
C07	`01`	`X`	`FRE`	`@0 Homme`
C07	`01`	`X`	`ENG`	`@0 Human`
C07	`01`	`X`	`SPA`	`@0 Hombre`
C07	`02`	`X`	`FRE`	`@0 Muscle strié pathologie @5 37`
C07	`02`	`X`	`ENG`	`@0 Striated muscle disease @5 37`
C07	`02`	`X`	`SPA`	`@0 Músculo estriado patología @5 37`
C07	`03`	`X`	`FRE`	`@0 Système nerveux pathologie @5 38`
C07	`03`	`X`	`ENG`	`@0 Nervous system diseases @5 38`
C07	`03`	`X`	`SPA`	`@0 Sistema nervioso patología @5 38`
C07	`04`	`X`	`FRE`	`@0 Trouble neurologique @5 39`
C07	`04`	`X`	`ENG`	`@0 Neurological disorder @5 39`
C07	`04`	`X`	`SPA`	`@0 Trastorno neurológico @5 39`
C07	`05`	`X`	`FRE`	`@0 Mouvement involontaire @5 40`
C07	`05`	`X`	`ENG`	`@0 Involuntary movement @5 40`
C07	`05`	`X`	`SPA`	`@0 Movimiento involuntario @5 40`
C07	`06`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 41`
C07	`06`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 41`
C07	`06`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 41`
C07	`07`	`X`	`FRE`	`@0 Maladie héréditaire @5 42`
C07	`07`	`X`	`ENG`	`@0 Genetic disease @5 42`
C07	`07`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 42`
C07	`08`	`X`	`FRE`	`@0 Aberration chromosomique @5 53`
C07	`08`	`X`	`ENG`	`@0 Chromosomal aberration @5 53`
C07	`08`	`X`	`SPA`	`@0 Aberración cromosómica @5 53`
C07	`09`	`X`	`FRE`	`@0 Chromosome anormal @5 54`
C07	`09`	`X`	`ENG`	`@0 Abnormal chromosome @5 54`
C07	`09`	`X`	`SPA`	`@0 Cromosoma anormal @5 54`
N21				`@1 119`
N82				`@1 PSI`

Format Inist (serveur)

NO :	PASCAL 02-0204638 INIST
ET :	Late-onset axial jerky dystonia due to the DYT1 deletion
AU :	CHINNERY (Patrick F.); READING (Paul J.); MCCARTHY (Emma L.); CURTIS (Ann); BURN (David J.)
AF :	Department of Neurology, The University of Newcastle upon Tyne/Royaume-Uni (1 aut., 2 aut.); Department of Human Genetics, The University of Newcastle upon Tyne/Royaume-Uni (3 aut., 4 aut., 5 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2002; Vol. 17; No. 1; Pp. 196-198; Bibl. 8 ref.
LA :	Anglais
EA :	We describe a 71-year-old woman who presented to the neurology department late in life with a jerky axial dystonia due to the DYTI GAG deletion. She recalled that her symptoms began 62 years prior to study and remained unchanged for 40 years, illustrating the broad phenotype of DYT1 idiopathic torsion dystonia.
CC :	002B17H
FD :	Dystonie; Myoclonie; Phénotype; Délétion; Age apparition; Etude cas; Déterminisme génétique; Evolution; Personne âgée; Femelle; Gène DYT1
FG :	Homme; Muscle strié pathologie; Système nerveux pathologie; Trouble neurologique; Mouvement involontaire; Extrapyramidal syndrome; Maladie héréditaire; Aberration chromosomique; Chromosome anormal
ED :	Dystonia; Myoclonus; Phenotype; Deletion; Age of onset; Case study; Genetic determinism; Evolution; Elderly; Female
EG :	Human; Striated muscle disease; Nervous system diseases; Neurological disorder; Involuntary movement; Extrapyramidal syndrome; Genetic disease; Chromosomal aberration; Abnormal chromosome
SD :	Distonía; Mioclonia; Fenotipo; Deleción; Edad aparición; Estudio caso; Determinismo genético; Evolución; Anciano; Hembra
LO :	INIST-20953.354000100147290340
ID :	02-0204638

Links to Exploration step

Pascal:02-0204638

Le document en format XML

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<front><div type="abstract" xml:lang="en">We describe a 71-year-old woman who presented to the neurology department late in life with a jerky axial dystonia due to the DYTI GAG deletion. She recalled that her symptoms began 62 years prior to study and remained unchanged for 40 years, illustrating the broad phenotype of DYT1 idiopathic torsion dystonia.</div>
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<fC01 i1="01" l="ENG"><s0>We describe a 71-year-old woman who presented to the neurology department late in life with a jerky axial dystonia due to the DYTI GAG deletion. She recalled that her symptoms began 62 years prior to study and remained unchanged for 40 years, illustrating the broad phenotype of DYT1 idiopathic torsion dystonia.</s0>
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<s5>20</s5>
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<fC07 i1="01" i2="X" l="SPA"><s0>Hombre</s0>
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<fC07 i1="02" i2="X" l="FRE"><s0>Muscle strié pathologie</s0>
<s5>37</s5>
</fC07>
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<s5>37</s5>
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</fC07>
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<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>39</s5>
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<fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>39</s5>
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<s5>40</s5>
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<fC07 i1="05" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>40</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>42</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Aberration chromosomique</s0>
<s5>53</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Chromosomal aberration</s0>
<s5>53</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Aberración cromosómica</s0>
<s5>53</s5>
</fC07>
<fC07 i1="09" i2="X" l="FRE"><s0>Chromosome anormal</s0>
<s5>54</s5>
</fC07>
<fC07 i1="09" i2="X" l="ENG"><s0>Abnormal chromosome</s0>
<s5>54</s5>
</fC07>
<fC07 i1="09" i2="X" l="SPA"><s0>Cromosoma anormal</s0>
<s5>54</s5>
</fC07>
<fN21><s1>119</s1>
</fN21>
<fN82><s1>PSI</s1>
</fN82>
</pA>
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<server><NO>PASCAL 02-0204638 INIST</NO>
<ET>Late-onset axial jerky dystonia due to the DYT1 deletion</ET>
<AU>CHINNERY (Patrick F.); READING (Paul J.); MCCARTHY (Emma L.); CURTIS (Ann); BURN (David J.)</AU>
<AF>Department of Neurology, The University of Newcastle upon Tyne/Royaume-Uni (1 aut., 2 aut.); Department of Human Genetics, The University of Newcastle upon Tyne/Royaume-Uni (3 aut., 4 aut., 5 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2002; Vol. 17; No. 1; Pp. 196-198; Bibl. 8 ref.</SO>
<LA>Anglais</LA>
<EA>We describe a 71-year-old woman who presented to the neurology department late in life with a jerky axial dystonia due to the DYTI GAG deletion. She recalled that her symptoms began 62 years prior to study and remained unchanged for 40 years, illustrating the broad phenotype of DYT1 idiopathic torsion dystonia.</EA>
<CC>002B17H</CC>
<FD>Dystonie; Myoclonie; Phénotype; Délétion; Age apparition; Etude cas; Déterminisme génétique; Evolution; Personne âgée; Femelle; Gène DYT1</FD>
<FG>Homme; Muscle strié pathologie; Système nerveux pathologie; Trouble neurologique; Mouvement involontaire; Extrapyramidal syndrome; Maladie héréditaire; Aberration chromosomique; Chromosome anormal</FG>
<ED>Dystonia; Myoclonus; Phenotype; Deletion; Age of onset; Case study; Genetic determinism; Evolution; Elderly; Female</ED>
<EG>Human; Striated muscle disease; Nervous system diseases; Neurological disorder; Involuntary movement; Extrapyramidal syndrome; Genetic disease; Chromosomal aberration; Abnormal chromosome</EG>
<SD>Distonía; Mioclonia; Fenotipo; Deleción; Edad aparición; Estudio caso; Determinismo genético; Evolución; Anciano; Hembra</SD>
<LO>INIST-20953.354000100147290340</LO>
<ID>02-0204638</ID>
</server>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Late-onset axial jerky dystonia due to the DYT1 deletion

Late-onset axial jerky dystonia due to the DYT1 deletion

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