Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp.
Identifieur interne : 002683 ( Ncbi/Checkpoint ); précédent : 002682; suivant : 002684Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp.
Auteurs : Katja Ritz [Pays-Bas] ; Justus L. Groen ; Jose J M. Kruisdijk ; Frank Baas ; Johannes H T M. Koelman ; Marina A J. TijssenSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Dystonic Disorders (genetics), Female, Genetic Predisposition to Disease, Genetic Testing (methods), Genotype, Humans, Male, Middle Aged, Molecular Chaperones (genetics), Mutation (genetics), RNA-Binding Proteins (genetics), Sarcoglycans (genetics), Trinucleotide Repeat Expansion (genetics), Young Adult.
- 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.
DOI: 10.1002/mds.22632
PubMed: 19441135
Affiliations:
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Kruisdijk</name></author><author><name sortKey="Baas, Frank" sort="Baas, Frank" uniqKey="Baas F" first="Frank" last="Baas">Frank Baas</name></author><author><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></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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Groen</name></author><author><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></author><author><name sortKey="Baas, Frank" sort="Baas, Frank" uniqKey="Baas F" first="Frank" last="Baas">Frank Baas</name></author><author><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></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. Tijssen</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Dystonic Disorders (genetics)</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genetic Testing (methods)</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Chaperones (genetics)</term><term>Mutation (genetics)</term><term>RNA-Binding Proteins (genetics)</term><term>Sarcoglycans (genetics)</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>Young Adult</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></textClass></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.</div></front></TEI><affiliations><list><country><li>Pays-Bas</li></country></list><tree><noCountry><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="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A J" last="Tijssen">Marina A J. Tijssen</name></noCountry><country name="Pays-Bas"><noRegion><name sortKey="Ritz, Katja" sort="Ritz, Katja" uniqKey="Ritz K" first="Katja" last="Ritz">Katja Ritz</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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