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.
Original language | English (US) |
---|---|
Pages (from-to) | 1506-1510 |
Number of pages | 5 |
Journal | Movement Disorders |
Volume | 19 |
Issue number | 12 |
DOIs | |
State | Published - Dec 2004 |
Keywords
- DYT12
- Dystonia
- Parkinsonism
- RDP
ASJC Scopus subject areas
- Neurology
- Clinical Neurology