MovDisordV3, PascalFrancis, Curation, bibRecord, 001710

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

Identifieur interne : 001710 ( PascalFrancis/Curation ); précédent : 001709; suivant : 001711

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

Auteurs : Andrew Mckeon [Irlande (pays)] ; Laurie J. Ozelius [États-Unis] ; Oria Hardiman [Irlande (pays)] ; Matthew J. Greenway [Irlande (pays)] ; Sean J. Pittock [Irlande (pays), États-Unis]

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.

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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.`
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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	`04`	`X`	`FRE`	`@0 Hétérogénéité @5 09`
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C03	`04`	`X`	`SPA`	`@0 Heterogeneidad @5 09`
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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`
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Le document en format XML

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<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
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<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name>
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<s2>Bronx, New York</s2>
<s3>USA</s3>
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<author><name sortKey="Hardiman, Oria" sort="Hardiman, Oria" uniqKey="Hardiman O" first="Oria" last="Hardiman">Oria Hardiman</name>
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<s2>Dublin</s2>
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</author>
<author><name sortKey="Greenway, Matthew J" sort="Greenway, Matthew J" uniqKey="Greenway M" first="Matthew J." last="Greenway">Matthew J. Greenway</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Beaumont Hospital Dublin and Royal College of Surgeons in Ireland</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
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<author><name sortKey="Pittock, Sean J" sort="Pittock, Sean J" uniqKey="Pittock S" first="Sean J." last="Pittock">Sean J. Pittock</name>
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<s2>Dublin</s2>
<s3>IRL</s3>
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<sZ>3 aut.</sZ>
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<series><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Dystonie</term>
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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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<fA11 i1="02" i2="1"><s1>OZELIUS (Laurie J.)</s1>
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<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Molecular Genetics, Albert Einstein College of Medicine</s1>
<s2>Bronx, New York</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
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<fA14 i1="03"><s1>Departments of Neurology and Laboratory Medicine & Pathology, Mayo Clinic College of Medicine</s1>
<s2>Rochester, Minnesota</s2>
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<sZ>5 aut.</sZ>
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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>01</s5>
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<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>
</inist>
</record>

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