MovDisordV3, Main, Merge, bibRecord, 005867

Rapid-onset Dystonia-Parkinsonism: A fourth family consistent with linkage to chromosome 19q13

Identifieur interne : 005867 ( Main/Merge ); précédent : 005866; suivant : 005868

Rapid-onset Dystonia-Parkinsonism: A fourth family consistent with linkage to chromosome 19q13

Auteurs : Jacek Zaremba [Pologne] ; Hanna Mierzewska [Pologne] ; Zofia Lysiak [Pologne] ; Patricia Kramer [États-Unis] ; Laurie J. Ozelius [États-Unis] ; Allison Brashear [États-Unis]

Source :

Movement disorders [ 0885-3185 ] ; 2004.

RBID : Pascal:05-0070319

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Liaison génétique, Chromosome, Dystonie, Parkinsonisme, Contrôle moteur.

English descriptors

KwdEn :
- Chromosome, Dystonia, Genetic linkage, Motor control, Nervous system diseases, Parkinsonism.

Abstract

Rapid-onset dystonia-parkinsonism (RDP, DYT12, MIM 128235) is a rare autosomal dominant movement disorder characterized by abrupt onset of slow, dystonic movements and prominent bulbar features. Three families and 1 isolated case have been described in the literature, and linkage to markers on chromosome 19q13 have been reported. Here, we describe the clinical features in a fourth family (the second in Europe) with 4 affected members, suggesting that RDP may be misdiagnosed for years and/or may mimic other dystonic/parkinsonian syndromes. By using haplotype analysis, we show that the family is consistent with linkage to markers on chromosome 19q13.

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Pascal:05-0070319

Le document en format XML

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<front><div type="abstract" xml:lang="en">Rapid-onset dystonia-parkinsonism (RDP, DYT12, MIM 128235) is a rare autosomal dominant movement disorder characterized by abrupt onset of slow, dystonic movements and prominent bulbar features. Three families and 1 isolated case have been described in the literature, and linkage to markers on chromosome 19q13 have been reported. Here, we describe the clinical features in a fourth family (the second in Europe) with 4 affected members, suggesting that RDP may be misdiagnosed for years and/or may mimic other dystonic/parkinsonian syndromes. By using haplotype analysis, we show that the family is consistent with linkage to markers on chromosome 19q13.</div>
</front>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Rapid-onset Dystonia-Parkinsonism: A fourth family consistent with linkage to chromosome 19q13

Rapid-onset Dystonia-Parkinsonism: A fourth family consistent with linkage to chromosome 19q13

Source :

Descripteurs français

English descriptors

Abstract

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

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