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

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.

• Authors: Jacek Zaremba, Hanna Mierzewska, Zofia Lysiak, Patricia Kramer, Laurie J Ozelius, Allison Brashear
• Journal: Movement disorders : official journal of the Movement Disorder Society (Mov Disord) Vol. 19 Issue 12 Pg. 1506-10 (Dec 2004) ISSN: 0885-3185 [Print] United States
• PMID: 15390049 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
• Copyright: 2004 Movement Disorder Society.

Chemical References

• Genetic Markers

Topics

• Adolescent
• Adult
• Amino Acid Sequence
• Chromosomes, Human, Pair 19 (genetics)
• Dystonia (genetics)
• Female
• Genetic Linkage (genetics)
• Genetic Markers
• Humans
• Male
• Middle Aged
• Molecular Sequence Data
• Parkinsonian Disorders (genetics)
• Pedigree