Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp
Identifieur interne : 002062 ( Main/Exploration ); précédent : 002061; suivant : 002063Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp
Auteurs : Katja Ritz [Pays-Bas] ; Justus L. Groen [Pays-Bas] ; Jose J. M. Kruisdijk [Pays-Bas] ; Frank Baas [Pays-Bas] ; Johannes H. T. M. Koelman [Pays-Bas] ; Marina A. J. Tijssen [Pays-Bas]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-07-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, DYT1, DYT11, DYT16, Dystonia, Dystonic Disorders (genetics), Female, Genetic Predisposition to Disease, Genetic Testing (methods), Genotype, Human, Humans, Male, Medical screening, Middle Aged, Molecular Chaperones (genetics), Mutation (genetics), Nervous system diseases, RNA-Binding Proteins (genetics), Sarcoglycans (genetics), Trinucleotide Repeat Expansion (genetics), Writer cramp, Young Adult, writer's cramp.
- MESH :
- chemical , genetics : Molecular Chaperones, RNA-Binding Proteins, Sarcoglycans.
- genetics : Dystonic Disorders, Mutation, Trinucleotide Repeat Expansion.
- methods : Genetic Testing.
- Adolescent, Adult, Aged, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Young Adult.
Abstract
Task‐specific focal upper limb dystonia can be part of the phenotypic spectrum of different types of hereditary dystonia. We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. No DYT11 and DYT16 mutations were identified. One patient carried the GAG deletion in the DYT1 gene. In our cohort, writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers. © 2009 Movement Disorder Society
Url:
DOI: 10.1002/mds.22632
Affiliations:
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Le document en format XML
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Koelman</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A. J." last="Tijssen">Marina A. J. 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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="2009-07-15">2009-07-15</date><biblScope unit="vol">24</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1390">1390</biblScope><biblScope unit="page" to="1392">1392</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">4FB5099F9D4B632F59D9FEE8677FFE29D2542D09</idno><idno type="DOI">10.1002/mds.22632</idno><idno type="ArticleID">MDS22632</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>DYT1</term><term>DYT11</term><term>DYT16</term><term>Dystonia</term><term>Dystonic Disorders (genetics)</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genetic Testing (methods)</term><term>Genotype</term><term>Human</term><term>Humans</term><term>Male</term><term>Medical screening</term><term>Middle Aged</term><term>Molecular Chaperones (genetics)</term><term>Mutation (genetics)</term><term>Nervous system diseases</term><term>RNA-Binding Proteins (genetics)</term><term>Sarcoglycans (genetics)</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>Writer cramp</term><term>Young Adult</term><term>writer's cramp</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Molecular Chaperones</term><term>RNA-Binding Proteins</term><term>Sarcoglycans</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Mutation</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Testing</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Crampe écrivain</term><term>Dystonie</term><term>Dépistage</term><term>Homme</term><term>Pathologie du système nerveux</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">Task‐specific focal upper limb dystonia can be part of the phenotypic spectrum of different types of hereditary dystonia. We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. No DYT11 and DYT16 mutations were identified. One patient carried the GAG deletion in the DYT1 gene. In our cohort, writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers. © 2009 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Pays-Bas</li></country><region><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li></settlement></list><tree><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Ritz, Katja" sort="Ritz, Katja" uniqKey="Ritz K" first="Katja" last="Ritz">Katja Ritz</name></region><name sortKey="Baas, Frank" sort="Baas, Frank" uniqKey="Baas F" first="Frank" last="Baas">Frank Baas</name><name sortKey="Groen, Justus L" sort="Groen, Justus L" uniqKey="Groen J" first="Justus L." last="Groen">Justus L. Groen</name><name sortKey="Koelman, Johannes H T M" sort="Koelman, Johannes H T M" uniqKey="Koelman J" first="Johannes H. T. M." last="Koelman">Johannes H. T. M. Koelman</name><name sortKey="Kruisdijk, Jose J M" sort="Kruisdijk, Jose J M" uniqKey="Kruisdijk J" first="Jose J. M." last="Kruisdijk">Jose J. M. Kruisdijk</name><name sortKey="Ritz, Katja" sort="Ritz, Katja" uniqKey="Ritz K" first="Katja" last="Ritz">Katja Ritz</name><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A. J." last="Tijssen">Marina A. J. Tijssen</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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