Late‐onset axial jerky dystonia due to the DYT1 deletion
Identifieur interne : 004410 ( Main/Exploration ); précédent : 004409; suivant : 004411Late‐onset axial jerky dystonia due to the DYT1 deletion
Auteurs : Patrick F. Chinnery [Royaume-Uni] ; Paul J. Reading [Royaume-Uni] ; Emma L. Mccarthy [Royaume-Uni] ; Ann Curtis [Royaume-Uni] ; David J. Burn [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2002-01.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Personne âgée.
English descriptors
- KwdEn :
- 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. © 2001 Movement Disorder Society.
Url:
DOI: 10.1002/mds.10021
Affiliations:
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Le document en format XML
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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. © 2001 Movement Disorder Society.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country></list><tree><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></noRegion><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. 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