Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literature
Identifieur interne : 003E98 ( Main/Exploration ); précédent : 003E97; suivant : 003E99Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literature
Auteurs : Mark Edwards [Royaume-Uni] ; Nicholas Wood [Royaume-Uni] ; Kailash Bhatia [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2003-06.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Bibliographic survey, Case study, DYT1 dystonia, Dystonia, Dystonia (genetics), Dystonia (physiopathology), Dystonia Musculorum Deformans (genetics), Dystonia Musculorum Deformans (physiopathology), Exploration, Female, Genotype, Human, Humans, Male, Mutation, Phenotype, Video recording, phenotype, phenotypic variability.
- MESH :
- genetics : Dystonia, Dystonia Musculorum Deformans.
- physiopathology : Dystonia, Dystonia Musculorum Deformans.
- Female, Genotype, Humans, Male, Mutation, Phenotype.
Abstract
Since the advent of widespread testing for the presence of the DYT1 gene mutation, the range of phenotypes that have been associated with this genetic abnormality has expanded. We report on 5 DYT1 gene‐positive patients with unusual phenotypes. Two of them had late presentation, one of these after peripheral injury. Three additional patients had late progression of symptoms, onset after exposure to haloperidol, and severe bulbar involvement, respectively. The clinical heterogeneity of this condition raises problems for clinicians in selecting appropriate patients for diagnostic testing. Also, because of the low phenotypic penetrance of DYT1 dystonia, the discovery of the DYT1 mutation in a patient with an atypical clinical syndrome may not necessarily suggest a causal relationship. We have, therefore, analysed all published clinical studies of DYT1 dystonia to guide clinical decision making concerning DYT1 gene testing based on current information. © 2003 Movement Disorder Society
Url:
DOI: 10.1002/mds.10411
Affiliations:
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2003-06">2003-06</date><biblScope unit="vol">18</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="706">706</biblScope><biblScope unit="page" to="711">711</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">BCAB4805991ADE6B6EB21DD3588F365960700E52</idno><idno type="DOI">10.1002/mds.10411</idno><idno type="ArticleID">MDS10411</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Bibliographic survey</term><term>Case study</term><term>DYT1 dystonia</term><term>Dystonia</term><term>Dystonia (genetics)</term><term>Dystonia (physiopathology)</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Dystonia Musculorum Deformans (physiopathology)</term><term>Exploration</term><term>Female</term><term>Genotype</term><term>Human</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Phenotype</term><term>Video recording</term><term>phenotype</term><term>phenotypic variability</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term><term>Dystonia Musculorum Deformans</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dystonia</term><term>Dystonia Musculorum Deformans</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Phenotype</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Enregistrement vidéo</term><term>Etude cas</term><term>Exploration</term><term>Gène DYT1</term><term>Homme</term><term>Mutation</term><term>Phénotype</term><term>Synthèse bibliographique</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Since the advent of widespread testing for the presence of the DYT1 gene mutation, the range of phenotypes that have been associated with this genetic abnormality has expanded. We report on 5 DYT1 gene‐positive patients with unusual phenotypes. Two of them had late presentation, one of these after peripheral injury. Three additional patients had late progression of symptoms, onset after exposure to haloperidol, and severe bulbar involvement, respectively. The clinical heterogeneity of this condition raises problems for clinicians in selecting appropriate patients for diagnostic testing. Also, because of the low phenotypic penetrance of DYT1 dystonia, the discovery of the DYT1 mutation in a patient with an atypical clinical syndrome may not necessarily suggest a causal relationship. We have, therefore, analysed all published clinical studies of DYT1 dystonia to guide clinical decision making concerning DYT1 gene testing based on current information. © 2003 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Edwards, Mark" sort="Edwards, Mark" uniqKey="Edwards M" first="Mark" last="Edwards">Mark Edwards</name></region><name sortKey="Bhatia, Kailash" sort="Bhatia, Kailash" uniqKey="Bhatia K" first="Kailash" last="Bhatia">Kailash Bhatia</name><name sortKey="Wood, Nicholas" sort="Wood, Nicholas" uniqKey="Wood N" first="Nicholas" last="Wood">Nicholas Wood</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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