Rapid‐onset dystonia–parkinsonism: A fourth family consistent with linkage to chromosome 19q13
- 27 October 2004
- journal article
- case report
- Published by Wiley in Movement Disorders
- Vol. 19 (12) , 1506-1510
- https://doi.org/10.1002/mds.20258
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 SocietyKeywords
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