MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 000D09

Screening for Dystonia Genes DYT1, 11 and 16 in Patients with Writer's Cramp

Identifieur interne : 000D09 ( PascalFrancis/Checkpoint ); précédent : 000D08; suivant : 000D10

Screening 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.

RBID : Pascal:09-0349979

Descripteurs français

Pascal (Inist)
- Dystonie, Crampe écrivain, Pathologie du système nerveux, Dépistage, Homme.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Dystonia, Human, Medical screening, Nervous system diseases, Writer cramp.

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.

Affiliations:

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Pascal:09-0349979

Le document en format XML

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<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>
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<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>

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   |texte=   Screening for Dystonia Genes DYT1, 11 and 16 in Patients with Writer's Cramp
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	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Screening for Dystonia Genes DYT1, 11 and 16 in Patients with Writer's Cramp

Screening for Dystonia Genes DYT1, 11 and 16 in Patients with Writer's Cramp

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