Rapid-onset dystonia-parkinsonism

A fourth family consistent with linkage to chromosome 19q13

Jacek Zaremba, Hanna Mierzewska, Zofia Lysiak, Patricia Kramer, Laurie J. Ozelius, Allison Brashear

Research output: Contribution to journalArticle

31 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)1506-1510
Number of pages5
JournalMovement Disorders
Volume19
Issue number12
DOIs
StatePublished - Dec 2004

Fingerprint

Genetic Markers
Chromosomes
Movement Disorders
Parkinsonian Disorders
Diagnostic Errors
Haplotypes
Dystonia 12

Keywords

  • Dystonia
  • DYT12
  • Parkinsonism
  • RDP

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Zaremba, J., Mierzewska, H., Lysiak, Z., Kramer, P., Ozelius, L. J., & Brashear, A. (2004). Rapid-onset dystonia-parkinsonism: A fourth family consistent with linkage to chromosome 19q13. Movement Disorders, 19(12), 1506-1510. https://doi.org/10.1002/mds.20258

Rapid-onset dystonia-parkinsonism : A fourth family consistent with linkage to chromosome 19q13. / Zaremba, Jacek; Mierzewska, Hanna; Lysiak, Zofia; Kramer, Patricia; Ozelius, Laurie J.; Brashear, Allison.

In: Movement Disorders, Vol. 19, No. 12, 12.2004, p. 1506-1510.

Research output: Contribution to journalArticle

Zaremba, J, Mierzewska, H, Lysiak, Z, Kramer, P, Ozelius, LJ & Brashear, A 2004, 'Rapid-onset dystonia-parkinsonism: A fourth family consistent with linkage to chromosome 19q13', Movement Disorders, vol. 19, no. 12, pp. 1506-1510. https://doi.org/10.1002/mds.20258
Zaremba J, Mierzewska H, Lysiak Z, Kramer P, Ozelius LJ, Brashear A. Rapid-onset dystonia-parkinsonism: A fourth family consistent with linkage to chromosome 19q13. Movement Disorders. 2004 Dec;19(12):1506-1510. https://doi.org/10.1002/mds.20258
Zaremba, Jacek ; Mierzewska, Hanna ; Lysiak, Zofia ; Kramer, Patricia ; Ozelius, Laurie J. ; Brashear, Allison. / Rapid-onset dystonia-parkinsonism : A fourth family consistent with linkage to chromosome 19q13. In: Movement Disorders. 2004 ; Vol. 19, No. 12. pp. 1506-1510.
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