Rapid‐onset dystonia–parkinsonism: A fourth family consistent with linkage to chromosome 19q13
Identifieur interne : 002550 ( Istex/Checkpoint ); précédent : 002549; suivant : 002551Rapid‐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.
English descriptors
- KwdEn :
- DYT12, RDP, dystonia, 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. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.20258
Affiliations:
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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>
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