MovDisordV3, Main, Exploration, bibRecord, 003B69

Rapid‐onset dystonia–parkinsonism: A fourth family consistent with linkage to chromosome 19q13

Identifieur interne : 003B69 ( Main/Exploration ); précédent : 003B68; suivant : 003B70

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 ] ; 2004-12.

RBID : ISTEX:59C78FE9C95E5509098252021484BB8480A7CED2

Descripteurs français

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

English descriptors

KwdEn :
- Adolescent, Adult, Amino Acid Sequence, Chromosome, Chromosomes, Human, Pair 19 (genetics), DYT12, Dystonia, Dystonia (genetics), Female, Genetic Linkage (genetics), Genetic Markers, Genetic linkage, Humans, Male, Middle Aged, Molecular Sequence Data, Motor control, Nervous system diseases, Parkinsonian Disorders (genetics), Parkinsonism, Pedigree, RDP, dystonia, parkinsonism.
MESH :
- chemical : Genetic Markers.
- genetics : Chromosomes, Human, Pair 19, Dystonia, Genetic Linkage, Parkinsonian Disorders.
- Adolescent, Adult, Amino Acid Sequence, Female, Humans, Male, Middle Aged, Molecular Sequence Data, Pedigree.

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. © 2004 Movement Disorder Society

Url:

https://api.istex.fr/document/59C78FE9C95E5509098252021484BB8480A7CED2/fulltext/pdf

DOI: 10.1002/mds.20258

Affiliations:

Le document en format XML

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<term>DYT12</term>
<term>Dystonia</term>
<term>Dystonia (genetics)</term>
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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. © 2004 Movement Disorder Society</div>
</front>
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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...)

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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