Article

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

Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
Movement Disorders (Impact Factor: 5.63). 12/2004; 19(12):1506-10. DOI: 10.1002/mds.20258
Source: PubMed

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.

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