The DYT1 GAG deletion is infrequent in sporadic and familial writer' s cramp.
Identifieur interne : 000398 ( Ncbi/Checkpoint ); précédent : 000397; suivant : 000399The DYT1 GAG deletion is infrequent in sporadic and familial writer' s cramp.
Auteurs : C. Kamm [Allemagne] ; M. Naumann ; J. Mueller ; N. Mai ; L. Riedel ; J. Wissel ; T. GasserSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2000.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Carrier Proteins.
- genetics : Dystonia Musculorum Deformans, Dystonic Disorders.
- Adult, Base Pairing, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Molecular Chaperones, Mutation, Pedigree, Phenotype, Sequence Deletion.
Abstract
A 3-base pair (GAG) deletion in the DYT1 gene has recently been found to be responsible for most cases of early-onset primary generalized dystonia. In some cases, this mutation has been associated with writer's cramp. To determine the frequency of this mutation in a larger series of patients, we examined 44 index patients with sporadic or familial (seven patients) writer's cramp for the presence of the DYT1 GAG deletion, including eight patients with segmental dystonia involving at least one upper limb. We found the mutation in none of these index patients, which confirms that isolated writer's cramp is only in rare cases a phenotypic manifestation of this mutation, even if a positive family history of writer's cramp is present.
PubMed: 11104212
Affiliations:
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Mueller</name></author><author><name sortKey="Mai, N" sort="Mai, N" uniqKey="Mai N" first="N" last="Mai">N. Mai</name></author><author><name sortKey="Riedel, L" sort="Riedel, L" uniqKey="Riedel L" first="L" last="Riedel">L. Riedel</name></author><author><name sortKey="Wissel, J" sort="Wissel, J" uniqKey="Wissel J" first="J" last="Wissel">J. Wissel</name></author><author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. 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Kamm</name><affiliation wicri:level="3"><nlm:affiliation>Neurologische Kliniken, Klinikum Grosshadern, Ludwig-Maximilians-Universität, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neurologische Kliniken, Klinikum Grosshadern, Ludwig-Maximilians-Universität, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Naumann, M" sort="Naumann, M" uniqKey="Naumann M" first="M" last="Naumann">M. Naumann</name></author><author><name sortKey="Mueller, J" sort="Mueller, J" uniqKey="Mueller J" first="J" last="Mueller">J. Mueller</name></author><author><name sortKey="Mai, N" sort="Mai, N" uniqKey="Mai N" first="N" last="Mai">N. Mai</name></author><author><name sortKey="Riedel, L" sort="Riedel, L" uniqKey="Riedel L" first="L" last="Riedel">L. Riedel</name></author><author><name sortKey="Wissel, J" sort="Wissel, J" uniqKey="Wissel J" first="J" last="Wissel">J. Wissel</name></author><author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. Gasser</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2000" type="published">2000</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Base Pairing</term><term>Carrier Proteins (genetics)</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Dystonic Disorders (genetics)</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Chaperones</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term><term>Sequence Deletion</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 Musculorum Deformans</term><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Base Pairing</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Chaperones</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term><term>Sequence Deletion</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A 3-base pair (GAG) deletion in the DYT1 gene has recently been found to be responsible for most cases of early-onset primary generalized dystonia. In some cases, this mutation has been associated with writer's cramp. To determine the frequency of this mutation in a larger series of patients, we examined 44 index patients with sporadic or familial (seven patients) writer's cramp for the presence of the DYT1 GAG deletion, including eight patients with segmental dystonia involving at least one upper limb. We found the mutation in none of these index patients, which confirms that isolated writer's cramp is only in rare cases a phenotypic manifestation of this mutation, even if a positive family history of writer's cramp is present.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>Bavière</li><li>District de Haute-Bavière</li></region><settlement><li>Munich</li></settlement></list><tree><noCountry><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. Gasser</name><name sortKey="Mai, N" sort="Mai, N" uniqKey="Mai N" first="N" last="Mai">N. Mai</name><name sortKey="Mueller, J" sort="Mueller, J" uniqKey="Mueller J" first="J" last="Mueller">J. Mueller</name><name sortKey="Naumann, M" sort="Naumann, M" uniqKey="Naumann M" first="M" last="Naumann">M. Naumann</name><name sortKey="Riedel, L" sort="Riedel, L" uniqKey="Riedel L" first="L" last="Riedel">L. Riedel</name><name sortKey="Wissel, J" sort="Wissel, J" uniqKey="Wissel J" first="J" last="Wissel">J. Wissel</name></noCountry><country name="Allemagne"><region name="Bavière"><name sortKey="Kamm, C" sort="Kamm, C" uniqKey="Kamm C" first="C" last="Kamm">C. Kamm</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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