MovDisordV3, Main, Exploration, bibRecord, 004951

The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp

Identifieur interne : 004951 ( Main/Exploration ); précédent : 004950; suivant : 004952

The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp

Auteurs : Christoph Kamm [Allemagne, États-Unis] ; Markus Naumann [Allemagne] ; Joerg Mueller [Autriche] ; Norbert Mai [Allemagne] ; Leonhard Riedel [Allemagne] ; Joerg Wissel [Autriche] ; Thomas Gasser [Allemagne]

Source :

Movement Disorders [ 0885-3185 ] ; 2000-11.

RBID : ISTEX:EBD87EDD076245EC8A863222DAA44E8EFDF7E9CB

Descripteurs français

Pascal (Inist)
- Biologie moléculaire, Crampe écrivain, Dystonie, Délétion, Déterminisme génétique, Homme, Localisé, Mutation, Trinucléotide.
Wicri :
- topic : Génétique, Homme.

English descriptors

KwdEn :
- Adult, Base Pairing, Carrier Proteins (genetics), DYT1, Deletion, Dystonia, Dystonia Musculorum Deformans (genetics), Dystonic Disorders (genetics), Female, GAG deletion, Genetic Predisposition to Disease, Genetic determinism, Genetics, Human, Humans, Localized, Male, Middle Aged, Molecular Chaperones, Molecular biology, Mutation, Pedigree, Phenotype, Sequence Deletion, TorsinA, Trinucleotide, Writer cramp, Writer's cramp.
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.

Url:

https://api.istex.fr/document/EBD87EDD076245EC8A863222DAA44E8EFDF7E9CB/fulltext/pdf

DOI: 10.1002/1531-8257(200011)15:6<1238::AID-MDS1027>3.0.CO;2-Z

Affiliations:

Le document en format XML

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<term>Dystonia Musculorum Deformans (genetics)</term>
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<term>Genetic Predisposition to Disease</term>
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<term>Middle Aged</term>
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<term>Mutation</term>
<term>Pedigree</term>
<term>Phenotype</term>
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<term>Trinucleotide</term>
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<term>Writer's cramp</term>
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<term>Male</term>
<term>Middle Aged</term>
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<term>Phenotype</term>
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<term>Localisé</term>
<term>Mutation</term>
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<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>
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Movement Disorders (revue)

The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp

The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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