MovDisordV3, PubMed, Corpus, bibRecord, 004160

GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.

Identifieur interne : 004160 ( PubMed/Corpus ); précédent : 004159; suivant : 004161

GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.

Auteurs : C. Kamm ; E. Castelon-Konkiewitz ; M. Naumann ; F. Heinen ; M. Brack ; A. Nebe ; A. Ceballos-Baumann ; T. Gasser

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1999.

RBID : pubmed:10435508

English descriptors

KwdEn :
- Adolescent, Adult, Age of Onset, Aged, Carrier Proteins (genetics), Child, Chromosomes, Human, Pair 9, Disease Progression, Dystonia (classification), Dystonia (genetics), Extremities, Family Health, Female, Gene Deletion, Genetic Markers, Germany, Haplotypes, Humans, Male, Middle Aged, Molecular Chaperones, Polymorphism, Restriction Fragment Length.
MESH :
- chemical , genetics : Carrier Proteins.
- geographic : Germany, Molecular Chaperones.
- classification : Dystonia.
- genetics : Dystonia.
- Adolescent, Adult, Age of Onset, Aged, Child, Chromosomes, Human, Pair 9, Disease Progression, Extremities, Family Health, Female, Gene Deletion, Genetic Markers, Haplotypes, Humans, Male, Middle Aged, Polymorphism, Restriction Fragment Length.

Abstract

We examined 57 patients with idiopathic torsion dystonia (ITD) for the 3-bp GAG deletion in the DYT1 gene on human chromosome 9q34. Three of five patients with early limb-onset ITD, one of them with a positive family history, tested positive for the mutation, as did one young patient with multifocal dystonia and a short course of the disease. Two patients with early-onset generalized dystonia beginning in the cervical muscles, as well as five other patients with multifocal, 14 patients with segmental, and 30 patients with focal cervical dystonia did not carry the mutation. This suggests that the GAG deletion is responsible for a major portion of cases of typical early limb-onset dystonia, but not for other types of dystonia, in our population.

PubMed: 10435508

Links to Exploration step

pubmed:10435508

Le document en format XML

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<author><name sortKey="Kamm, C" sort="Kamm, C" uniqKey="Kamm C" first="C" last="Kamm">C. Kamm</name>
<affiliation><nlm:affiliation>Department of Neurology, Klinikum Grosshadern, Ludwig-Maximilians-Universität, München, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Castelon Konkiewitz, E" sort="Castelon Konkiewitz, E" uniqKey="Castelon Konkiewitz E" first="E" last="Castelon-Konkiewitz">E. Castelon-Konkiewitz</name>
</author>
<author><name sortKey="Naumann, M" sort="Naumann, M" uniqKey="Naumann M" first="M" last="Naumann">M. Naumann</name>
</author>
<author><name sortKey="Heinen, F" sort="Heinen, F" uniqKey="Heinen F" first="F" last="Heinen">F. Heinen</name>
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<author><name sortKey="Brack, M" sort="Brack, M" uniqKey="Brack M" first="M" last="Brack">M. Brack</name>
</author>
<author><name sortKey="Nebe, A" sort="Nebe, A" uniqKey="Nebe A" first="A" last="Nebe">A. Nebe</name>
</author>
<author><name sortKey="Ceballos Baumann, A" sort="Ceballos Baumann, A" uniqKey="Ceballos Baumann A" first="A" last="Ceballos-Baumann">A. Ceballos-Baumann</name>
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<author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. Gasser</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.</title>
<author><name sortKey="Kamm, C" sort="Kamm, C" uniqKey="Kamm C" first="C" last="Kamm">C. Kamm</name>
<affiliation><nlm:affiliation>Department of Neurology, Klinikum Grosshadern, Ludwig-Maximilians-Universität, München, Germany.</nlm:affiliation>
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<author><name sortKey="Castelon Konkiewitz, E" sort="Castelon Konkiewitz, E" uniqKey="Castelon Konkiewitz E" first="E" last="Castelon-Konkiewitz">E. Castelon-Konkiewitz</name>
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<author><name sortKey="Naumann, M" sort="Naumann, M" uniqKey="Naumann M" first="M" last="Naumann">M. Naumann</name>
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<author><name sortKey="Heinen, F" sort="Heinen, F" uniqKey="Heinen F" first="F" last="Heinen">F. Heinen</name>
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<author><name sortKey="Brack, M" sort="Brack, M" uniqKey="Brack M" first="M" last="Brack">M. Brack</name>
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<author><name sortKey="Nebe, A" sort="Nebe, A" uniqKey="Nebe A" first="A" last="Nebe">A. Nebe</name>
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<author><name sortKey="Ceballos Baumann, A" sort="Ceballos Baumann, A" uniqKey="Ceballos Baumann A" first="A" last="Ceballos-Baumann">A. Ceballos-Baumann</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Carrier Proteins (genetics)</term>
<term>Child</term>
<term>Chromosomes, Human, Pair 9</term>
<term>Disease Progression</term>
<term>Dystonia (classification)</term>
<term>Dystonia (genetics)</term>
<term>Extremities</term>
<term>Family Health</term>
<term>Female</term>
<term>Gene Deletion</term>
<term>Genetic Markers</term>
<term>Germany</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Molecular Chaperones</term>
<term>Polymorphism, Restriction Fragment Length</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term>
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<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Germany</term>
<term>Molecular Chaperones</term>
</keywords>
<keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Dystonia</term>
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<term>Age of Onset</term>
<term>Aged</term>
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<term>Chromosomes, Human, Pair 9</term>
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<term>Gene Deletion</term>
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<front><div type="abstract" xml:lang="en">We examined 57 patients with idiopathic torsion dystonia (ITD) for the 3-bp GAG deletion in the DYT1 gene on human chromosome 9q34. Three of five patients with early limb-onset ITD, one of them with a positive family history, tested positive for the mutation, as did one young patient with multifocal dystonia and a short course of the disease. Two patients with early-onset generalized dystonia beginning in the cervical muscles, as well as five other patients with multifocal, 14 patients with segmental, and 30 patients with focal cervical dystonia did not carry the mutation. This suggests that the GAG deletion is responsible for a major portion of cases of typical early limb-onset dystonia, but not for other types of dystonia, in our population.</div>
</front>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.</ArticleTitle>
<Pagination><MedlinePgn>681-3</MedlinePgn>
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<Abstract><AbstractText>We examined 57 patients with idiopathic torsion dystonia (ITD) for the 3-bp GAG deletion in the DYT1 gene on human chromosome 9q34. Three of five patients with early limb-onset ITD, one of them with a positive family history, tested positive for the mutation, as did one young patient with multifocal dystonia and a short course of the disease. Two patients with early-onset generalized dystonia beginning in the cervical muscles, as well as five other patients with multifocal, 14 patients with segmental, and 30 patients with focal cervical dystonia did not carry the mutation. This suggests that the GAG deletion is responsible for a major portion of cases of typical early limb-onset dystonia, but not for other types of dystonia, in our population.</AbstractText>
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	Movement Disorders (revue)
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Movement Disorders (revue)

GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.

GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki