MovDisordV3, PubMed, Checkpoint, bibRecord, 003A44

Late-onset axial jerky dystonia due to the DYT1 deletion.

Identifieur interne : 003A44 ( PubMed/Checkpoint ); précédent : 003A43; suivant : 003A45

Late-onset axial jerky dystonia due to the DYT1 deletion.

Auteurs : Patrick F. Chinnery [Royaume-Uni] ; Paul J. Reading ; Emma L. Mccarthy ; Ann Curtis ; David J. Burn

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.

RBID : pubmed:11835464

English descriptors

KwdEn :
- Age Factors, Aged, Carrier Proteins (genetics), Dystonia (genetics), Female, Gene Deletion, Humans, Molecular Chaperones.
MESH :
- chemical , genetics : Carrier Proteins.
- genetics : Dystonia.
- Age Factors, Aged, Female, Gene Deletion, Humans, Molecular Chaperones.

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 DYT1 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.

PubMed: 11835464

Affiliations:

Royaume-Uni

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pubmed:11835464

Le document en format XML

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<author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The University of Newcastle upon Tyne, United Kingdom. P.F.Chinnery@ncl.ac.uk</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Neurology, The University of Newcastle upon Tyne</wicri:regionArea>
<wicri:noRegion>The University of Newcastle upon Tyne</wicri:noRegion>
</affiliation>
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<author><name sortKey="Reading, Paul J" sort="Reading, Paul J" uniqKey="Reading P" first="Paul J" last="Reading">Paul J. Reading</name>
</author>
<author><name sortKey="Mccarthy, Emma L" sort="Mccarthy, Emma L" uniqKey="Mccarthy E" first="Emma L" last="Mccarthy">Emma L. Mccarthy</name>
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<author><name sortKey="Curtis, Ann" sort="Curtis, Ann" uniqKey="Curtis A" first="Ann" last="Curtis">Ann Curtis</name>
</author>
<author><name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David J" last="Burn">David J. Burn</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Late-onset axial jerky dystonia due to the DYT1 deletion.</title>
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<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The University of Newcastle upon Tyne, United Kingdom. P.F.Chinnery@ncl.ac.uk</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Neurology, The University of Newcastle upon Tyne</wicri:regionArea>
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<author><name sortKey="Mccarthy, Emma L" sort="Mccarthy, Emma L" uniqKey="Mccarthy E" first="Emma L" last="Mccarthy">Emma L. Mccarthy</name>
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<author><name sortKey="Curtis, Ann" sort="Curtis, Ann" uniqKey="Curtis A" first="Ann" last="Curtis">Ann Curtis</name>
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<author><name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David J" last="Burn">David J. Burn</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age Factors</term>
<term>Aged</term>
<term>Carrier Proteins (genetics)</term>
<term>Dystonia (genetics)</term>
<term>Female</term>
<term>Gene Deletion</term>
<term>Humans</term>
<term>Molecular Chaperones</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Age Factors</term>
<term>Aged</term>
<term>Female</term>
<term>Gene Deletion</term>
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<term>Molecular Chaperones</term>
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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 DYT1 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>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">11835464</PMID>
<DateCreated><Year>2002</Year>
<Month>02</Month>
<Day>08</Day>
</DateCreated>
<DateCompleted><Year>2002</Year>
<Month>05</Month>
<Day>24</Day>
</DateCompleted>
<DateRevised><Year>2007</Year>
<Month>05</Month>
<Day>10</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>17</Volume>
<Issue>1</Issue>
<PubDate><Year>2002</Year>
<Month>Jan</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Late-onset axial jerky dystonia due to the DYT1 deletion.</ArticleTitle>
<Pagination><MedlinePgn>196-8</MedlinePgn>
</Pagination>
<Abstract><AbstractText>We describe a 71-year-old woman who presented to the neurology department late in life with a jerky axial dystonia due to the DYT1 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.</AbstractText>
<CopyrightInformation>Copyright 2001 Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Chinnery</LastName>
<ForeName>Patrick F</ForeName>
<Initials>PF</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, The University of Newcastle upon Tyne, United Kingdom. P.F.Chinnery@ncl.ac.uk</Affiliation>
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<Author ValidYN="Y"><LastName>Reading</LastName>
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<Author ValidYN="Y"><LastName>McCarthy</LastName>
<ForeName>Emma L</ForeName>
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<Author ValidYN="Y"><LastName>Curtis</LastName>
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<Initials>A</Initials>
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<Author ValidYN="Y"><LastName>Burn</LastName>
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<Language>eng</Language>
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<MedlineJournalInfo><Country>United States</Country>
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<ISSNLinking>0885-3185</ISSNLinking>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D017353">Gene Deletion</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D018832">Molecular Chaperones</DescriptorName>
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<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2002</Year>
<Month>2</Month>
<Day>9</Day>
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<ArticleId IdType="pii">10.1002/mds.10021</ArticleId>
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<affiliations><list><country><li>Royaume-Uni</li>
</country>
</list>
<tree><noCountry><name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David J" last="Burn">David J. Burn</name>
<name sortKey="Curtis, Ann" sort="Curtis, Ann" uniqKey="Curtis A" first="Ann" last="Curtis">Ann Curtis</name>
<name sortKey="Mccarthy, Emma L" sort="Mccarthy, Emma L" uniqKey="Mccarthy E" first="Emma L" last="Mccarthy">Emma L. Mccarthy</name>
<name sortKey="Reading, Paul J" sort="Reading, Paul J" uniqKey="Reading P" first="Paul J" last="Reading">Paul J. Reading</name>
</noCountry>
<country name="Royaume-Uni"><noRegion><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name>
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</record>

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	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Late-onset axial jerky dystonia due to the DYT1 deletion.

Late-onset axial jerky dystonia due to the DYT1 deletion.

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki