Rapid-onset dystonia-parkinsonism

W. B. Dobyns, L. J. Ozelius, P. L. Kramer, A. Brashear, M. R. Farlow, T. R. Perry, L. E. Walsh, E. J. Kasarskis, I. J. Butler, X. O. Breakefield

Research output: Contribution to journalArticle

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Abstract

We studied a large family with a previously undescribed, autosomal dominant dystonia-parkinsonism syndrome. We chose to call the disorder "rapid-onset dystonia-parkinsonism" (RDP) based on the unusually rapid evolution of signs and symptoms. Affected individuals developed dystonia and parkinsonism between 14 and 45 years of age. The onset was acute in six individuals with the abrupt onset of symptoms over the course of several hours, and subacute in four others who had evolution over several days or weeks. Thereafter, progression of symptoms was usually very slow. Two had intermittent focal dystonia without parkinsonism, and one obligate gene carrier was asymptomatic at 68 years. CSF levels of homovanillic acid were decreased in the two individuals tested, but dopaminergic therapy provided only slight benefit. The DYT1 gene responsible for early-onset, generalized idiopathic torsion dystonia in Jewish and some non-Jewish families has been mapped to chromosome 9q34. Linkage analysis with three markers near the DYT1 gene showed several obligate recombinations, excluding DYT1 as a candidate gene for RDP. We believe RDP is unique and should be classified separately from other forms of hereditary dystonia-parkinsonism.

Original languageEnglish (US)
Pages (from-to)2596-2602
Number of pages7
JournalNeurology
Volume43
Issue number12
StatePublished - Dec 1993

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Parkinsonian Disorders
Dystonic Disorders
Dystonia
Genes
Dystonia Musculorum Deformans
Homovanillic Acid
Genetic Recombination
Signs and Symptoms
Chromosomes
Dystonia 12
Onset
Gene
Therapeutics

ASJC Scopus subject areas

  • Neuroscience(all)
  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

Cite this

Dobyns, W. B., Ozelius, L. J., Kramer, P. L., Brashear, A., Farlow, M. R., Perry, T. R., ... Breakefield, X. O. (1993). Rapid-onset dystonia-parkinsonism. Neurology, 43(12), 2596-2602.

Rapid-onset dystonia-parkinsonism. / Dobyns, W. B.; Ozelius, L. J.; Kramer, P. L.; Brashear, A.; Farlow, M. R.; Perry, T. R.; Walsh, L. E.; Kasarskis, E. J.; Butler, I. J.; Breakefield, X. O.

In: Neurology, Vol. 43, No. 12, 12.1993, p. 2596-2602.

Research output: Contribution to journalArticle

Dobyns, WB, Ozelius, LJ, Kramer, PL, Brashear, A, Farlow, MR, Perry, TR, Walsh, LE, Kasarskis, EJ, Butler, IJ & Breakefield, XO 1993, 'Rapid-onset dystonia-parkinsonism', Neurology, vol. 43, no. 12, pp. 2596-2602.
Dobyns WB, Ozelius LJ, Kramer PL, Brashear A, Farlow MR, Perry TR et al. Rapid-onset dystonia-parkinsonism. Neurology. 1993 Dec;43(12):2596-2602.
Dobyns, W. B. ; Ozelius, L. J. ; Kramer, P. L. ; Brashear, A. ; Farlow, M. R. ; Perry, T. R. ; Walsh, L. E. ; Kasarskis, E. J. ; Butler, I. J. ; Breakefield, X. O. / Rapid-onset dystonia-parkinsonism. In: Neurology. 1993 ; Vol. 43, No. 12. pp. 2596-2602.
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