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

✍ Scribed by Jacek Zaremba; Hanna Mierzewska; Zofia Lysiak; Patricia Kramer; Laurie J. Ozelius; Allison Brashear

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 71 KB
Volume: 19
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.20258

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✦ Synopsis

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

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