Rapid-onset dystonia-parkinsonism: A clinical and genetic analysis of a new kindred

Sean J Pittock, C. Joyce, V. O'Keane, B. Hugle, O. Hardiman, F. Brett, A. J. Green, David E. Barton, M. D. King, D. W. Webb

Research output: Contribution to journalArticle

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Abstract

Background: Rapid-onset dystonia-parkinsonism (RDP) is an autosomal dominant disorder linked to chromosome 19q13 that is characterized by sudden onset of primarily bulbar and upper limb dystonia with parkinsonism. Methods: The authors evaluated 12 individuals from three generations of an Irish family and obtained detailed medical records on a deceased member. The authors describe the clinical, psychiatric, and genetic features of the affected individuals. Results: Five of eight affected members developed sudden-onset (several hours to days) dystonia with postural instability. Four of the five also had bulbar symptoms. Two have stable focal or segmental limb dystonia. One has intermittent hemidystonia with dysarthria that comes on abruptly in times of stress or anxiety. Three had a history of profound difficulty socializing, and at presentation two developed depression. Three patients had a trial of dopamine agonists without benefit. Genetic analysis suggests linkage to chromosome 19 with lod score of 2.1 at zero recombination. Conclusion: This is the third reported family with chromosome 19q13 rapid-onset dystonia-parkinsonism. Psychiatric morbidity appeared common in affected members of this family and may be part of the RDP phenotype.

Original languageEnglish (US)
Pages (from-to)991-995
Number of pages5
JournalNeurology
Volume55
Issue number7
StatePublished - Oct 10 2000
Externally publishedYes

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Dystonia
Psychiatry
Chromosomes
Lod Score
Chromosomes, Human, Pair 19
Dysarthria
Genetic Linkage
Dopamine Agonists
Parkinsonian Disorders
Upper Extremity
Genetic Recombination
Medical Records
Anxiety
Depression
Morbidity
Phenotype
Dystonia 12

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Pittock, S. J., Joyce, C., O'Keane, V., Hugle, B., Hardiman, O., Brett, F., ... Webb, D. W. (2000). Rapid-onset dystonia-parkinsonism: A clinical and genetic analysis of a new kindred. Neurology, 55(7), 991-995.

Rapid-onset dystonia-parkinsonism : A clinical and genetic analysis of a new kindred. / Pittock, Sean J; Joyce, C.; O'Keane, V.; Hugle, B.; Hardiman, O.; Brett, F.; Green, A. J.; Barton, David E.; King, M. D.; Webb, D. W.

In: Neurology, Vol. 55, No. 7, 10.10.2000, p. 991-995.

Research output: Contribution to journalArticle

Pittock, SJ, Joyce, C, O'Keane, V, Hugle, B, Hardiman, O, Brett, F, Green, AJ, Barton, DE, King, MD & Webb, DW 2000, 'Rapid-onset dystonia-parkinsonism: A clinical and genetic analysis of a new kindred', Neurology, vol. 55, no. 7, pp. 991-995.
Pittock SJ, Joyce C, O'Keane V, Hugle B, Hardiman O, Brett F et al. Rapid-onset dystonia-parkinsonism: A clinical and genetic analysis of a new kindred. Neurology. 2000 Oct 10;55(7):991-995.
Pittock, Sean J ; Joyce, C. ; O'Keane, V. ; Hugle, B. ; Hardiman, O. ; Brett, F. ; Green, A. J. ; Barton, David E. ; King, M. D. ; Webb, D. W. / Rapid-onset dystonia-parkinsonism : A clinical and genetic analysis of a new kindred. In: Neurology. 2000 ; Vol. 55, No. 7. pp. 991-995.
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