MovDisordV3, PascalFrancis, Corpus, bibRecord, 001611

Heterogeneity of presentation and outcome in the irish rapid-onset dystonia-parkinsonism kindred

Identifieur interne : 001611 ( PascalFrancis/Corpus ); précédent : 001610; suivant : 001612

Heterogeneity of presentation and outcome in the irish rapid-onset dystonia-parkinsonism kindred

Auteurs : Andrew Mckeon ; Laurie J. Ozelius ; Oria Hardiman ; Matthew J. Greenway ; Sean J. Pittock

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0391085

Descripteurs français

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

English descriptors

KwdEn :
- Dystonia, Heterogeneity, Mutation, Nervous system diseases, Parkinsonism, Prognosis.

Abstract

The authors report a 7-year follow-up video study and molecular data on the Irish rapid-onset dystonia-Parkinsonism kindred. All affected patients tested had a missense mutation in the Na⁺/K⁺ -ATPase a3 subunit (ATP1A3), twice previously identified, suggestive of a mutation hotspot. Clinical presentation, progression, and outcome in this kindred is varied. Some patients remain stable over many years, others worsen, have a fluctuating course, or improve over time. To date there have been no effective treatments for this disorder, although Na⁺/K⁺ATPase may be a future therapeutic target. The broad phenotypic spectrum of RDP described in the text and detailed in the video, should be considered when evaluating patients with dystonia.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`01`	`1`		`@1 MCKEON (Andrew)`
A11	`02`	`1`		`@1 OZELIUS (Laurie J.)`
A11	`03`	`1`		`@1 HARDIMAN (Oria)`
A11	`04`	`1`		`@1 GREENWAY (Matthew J.)`
A11	`05`	`1`		`@1 PITTOCK (Sean J.)`
A14	`01`			`@1 Department of Neurology, Beaumont Hospital Dublin and Royal College of Surgeons in Ireland @2 Dublin @3 IRL @Z 1 aut. @Z 3 aut. @Z 4 aut. @Z 5 aut.`
A14	`02`			`@1 Department of Molecular Genetics, Albert Einstein College of Medicine @2 Bronx, New York @3 USA @Z 2 aut.`
A14	`03`			`@1 Departments of Neurology and Laboratory Medicine & Pathology, Mayo Clinic College of Medicine @2 Rochester, Minnesota @3 USA @Z 5 aut.`
A20				`@1 1325-1327`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000146732490180`
A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
A45				`@0 12 ref.`
A47	`01`	`1`		`@0 07-0391085`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
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C01	`01`		`ENG`	@0 The authors report a 7-year follow-up video study and molecular data on the Irish rapid-onset dystonia-Parkinsonism kindred. All affected patients tested had a missense mutation in the Na⁺/K⁺ -ATPase a3 subunit (ATP1A3), twice previously identified, suggestive of a mutation hotspot. Clinical presentation, progression, and outcome in this kindred is varied. Some patients remain stable over many years, others worsen, have a fluctuating course, or improve over time. To date there have been no effective treatments for this disorder, although Na⁺/K⁺ATPase may be a future therapeutic target. The broad phenotypic spectrum of RDP described in the text and detailed in the video, should be considered when evaluating patients with dystonia.
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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`
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C03	`04`	`X`	`FRE`	`@0 Hétérogénéité @5 09`
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C03	`04`	`X`	`SPA`	`@0 Heterogeneidad @5 09`
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C03	`05`	`X`	`SPA`	`@0 Pronóstico @5 10`
C03	`06`	`X`	`FRE`	`@0 Mutation @5 11`
C03	`06`	`X`	`ENG`	`@0 Mutation @5 11`
C03	`06`	`X`	`SPA`	`@0 Mutación @5 11`
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`
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C07	`06`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 42`
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N21				`@1 253`
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Format Inist (serveur)

NO :	PASCAL 07-0391085 INIST
ET :	Heterogeneity of presentation and outcome in the irish rapid-onset dystonia-parkinsonism kindred
AU :	MCKEON (Andrew); OZELIUS (Laurie J.); HARDIMAN (Oria); GREENWAY (Matthew J.); PITTOCK (Sean J.)
AF :	Department of Neurology, Beaumont Hospital Dublin and Royal College of Surgeons in Ireland/Dublin/Irlande (1 aut., 3 aut., 4 aut., 5 aut.); Department of Molecular Genetics, Albert Einstein College of Medicine/Bronx, New York/Etats-Unis (2 aut.); Departments of Neurology and Laboratory Medicine & Pathology, Mayo Clinic College of Medicine/Rochester, Minnesota/Etats-Unis (5 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. 1325-1327; Bibl. 12 ref.
LA :	Anglais
EA :	The authors report a 7-year follow-up video study and molecular data on the Irish rapid-onset dystonia-Parkinsonism kindred. All affected patients tested had a missense mutation in the Na⁺/K⁺ -ATPase a3 subunit (ATP1A3), twice previously identified, suggestive of a mutation hotspot. Clinical presentation, progression, and outcome in this kindred is varied. Some patients remain stable over many years, others worsen, have a fluctuating course, or improve over time. To date there have been no effective treatments for this disorder, although Na⁺/K⁺ATPase may be a future therapeutic target. The broad phenotypic spectrum of RDP described in the text and detailed in the video, should be considered when evaluating patients with dystonia.
CC :	002B17; 002B17H; 002B17G
FD :	Système nerveux pathologie; Dystonie; Parkinsonisme; Hétérogénéité; Pronostic; Mutation
FG :	Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Encéphale pathologie; Système nerveux central pathologie
ED :	Nervous system diseases; Dystonia; Parkinsonism; Heterogeneity; Prognosis; Mutation
EG :	Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease
SD :	Sistema nervioso patología; Distonía; Parkinson síndrome; Heterogeneidad; Pronóstico; Mutación
LO :	INIST-20953.354000146732490180
ID :	07-0391085

Links to Exploration step

Pascal:07-0391085

Le document en format XML

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<front><div type="abstract" xml:lang="en">The authors report a 7-year follow-up video study and molecular data on the Irish rapid-onset dystonia-Parkinsonism kindred. All affected patients tested had a missense mutation in the Na<sup>+</sup>
/K<sup>+</sup>
 -ATPase a3 subunit (ATP1A3), twice previously identified, suggestive of a mutation hotspot. Clinical presentation, progression, and outcome in this kindred is varied. Some patients remain stable over many years, others worsen, have a fluctuating course, or improve over time. To date there have been no effective treatments for this disorder, although Na<sup>+</sup>
/K<sup>+</sup>
ATPase may be a future therapeutic target. The broad phenotypic spectrum of RDP described in the text and detailed in the video, should be considered when evaluating patients with dystonia.</div>
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<fA14 i1="02"><s1>Department of Molecular Genetics, Albert Einstein College of Medicine</s1>
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<fA14 i1="03"><s1>Departments of Neurology and Laboratory Medicine & Pathology, Mayo Clinic College of Medicine</s1>
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<fC01 i1="01" l="ENG"><s0>The authors report a 7-year follow-up video study and molecular data on the Irish rapid-onset dystonia-Parkinsonism kindred. All affected patients tested had a missense mutation in the Na<sup>+</sup>
/K<sup>+</sup>
 -ATPase a3 subunit (ATP1A3), twice previously identified, suggestive of a mutation hotspot. Clinical presentation, progression, and outcome in this kindred is varied. Some patients remain stable over many years, others worsen, have a fluctuating course, or improve over time. To date there have been no effective treatments for this disorder, although Na<sup>+</sup>
/K<sup>+</sup>
ATPase may be a future therapeutic target. The broad phenotypic spectrum of RDP described in the text and detailed in the video, should be considered when evaluating patients with dystonia.</s0>
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<s5>03</s5>
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<s5>03</s5>
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<s5>09</s5>
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<fC03 i1="04" i2="X" l="ENG"><s0>Heterogeneity</s0>
<s5>09</s5>
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<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Muscle strié pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>42</s5>
</fC07>
<fN21><s1>253</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 07-0391085 INIST</NO>
<ET>Heterogeneity of presentation and outcome in the irish rapid-onset dystonia-parkinsonism kindred</ET>
<AU>MCKEON (Andrew); OZELIUS (Laurie J.); HARDIMAN (Oria); GREENWAY (Matthew J.); PITTOCK (Sean J.)</AU>
<AF>Department of Neurology, Beaumont Hospital Dublin and Royal College of Surgeons in Ireland/Dublin/Irlande (1 aut., 3 aut., 4 aut., 5 aut.); Department of Molecular Genetics, Albert Einstein College of Medicine/Bronx, New York/Etats-Unis (2 aut.); Departments of Neurology and Laboratory Medicine & Pathology, Mayo Clinic College of Medicine/Rochester, Minnesota/Etats-Unis (5 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. 1325-1327; Bibl. 12 ref.</SO>
<LA>Anglais</LA>
<EA>The authors report a 7-year follow-up video study and molecular data on the Irish rapid-onset dystonia-Parkinsonism kindred. All affected patients tested had a missense mutation in the Na<sup>+</sup>
/K<sup>+</sup>
 -ATPase a3 subunit (ATP1A3), twice previously identified, suggestive of a mutation hotspot. Clinical presentation, progression, and outcome in this kindred is varied. Some patients remain stable over many years, others worsen, have a fluctuating course, or improve over time. To date there have been no effective treatments for this disorder, although Na<sup>+</sup>
/K<sup>+</sup>
ATPase may be a future therapeutic target. The broad phenotypic spectrum of RDP described in the text and detailed in the video, should be considered when evaluating patients with dystonia.</EA>
<CC>002B17; 002B17H; 002B17G</CC>
<FD>Système nerveux pathologie; Dystonie; Parkinsonisme; Hétérogénéité; Pronostic; Mutation</FD>
<FG>Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Encéphale pathologie; Système nerveux central pathologie</FG>
<ED>Nervous system diseases; Dystonia; Parkinsonism; Heterogeneity; Prognosis; 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; Heterogeneidad; Pronóstico; Mutación</SD>
<LO>INIST-20953.354000146732490180</LO>
<ID>07-0391085</ID>
</server>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Heterogeneity of presentation and outcome in the irish rapid-onset dystonia-parkinsonism kindred

Heterogeneity of presentation and outcome in the irish rapid-onset dystonia-parkinsonism kindred

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