MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 002029

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

Identifieur interne : 002029 ( PascalFrancis/Checkpoint ); précédent : 002028; suivant : 002030

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.

Affiliations:

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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>
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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

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