Variable phenotype of rapid-onset dystonia-parkinsonism

A. Brashear, Martin Farlow, I. J. Butler, E. J. Kasarskis, W. B. Dobyns

Research output: Contribution to journalArticle

45 Citations (Scopus)

Abstract

Rapid-onset dystonia-parkinsonism (RDP) is an autosomal dominant disorder characterized by the rapid onset of dystonic spasms and parkinsonism over a period of a few hours to weeks after their onset. We have seen two additional members of this previously reported family with RDP who present with a more gradual progression of their disorder over 6-18 months. One of these individuals experienced the rapid progression of symptoms 2 years after an initial stabilization of his condition. The RDP phenotype is variable, and presentation may be gradual in some cases. Cerebrospinal fluid neurotransmitter levels in these two and other family members suggest involvement of the dopaminergic pathways in RDP.

Original languageEnglish
Pages (from-to)151-156
Number of pages6
JournalMovement Disorders
Volume11
Issue number2
DOIs
StatePublished - 1996

Fingerprint

Phenotype
Spasm
Parkinsonian Disorders
Neurotransmitter Agents
Cerebrospinal Fluid
Dystonia 12

Keywords

  • Dopamine
  • Dystonia
  • Homovanillic acid
  • Parkinsonism
  • Parkinsonism
  • Rapid-onset dystonia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Brashear, A., Farlow, M., Butler, I. J., Kasarskis, E. J., & Dobyns, W. B. (1996). Variable phenotype of rapid-onset dystonia-parkinsonism. Movement Disorders, 11(2), 151-156. https://doi.org/10.1002/mds.870110206

Variable phenotype of rapid-onset dystonia-parkinsonism. / Brashear, A.; Farlow, Martin; Butler, I. J.; Kasarskis, E. J.; Dobyns, W. B.

In: Movement Disorders, Vol. 11, No. 2, 1996, p. 151-156.

Research output: Contribution to journalArticle

Brashear, A, Farlow, M, Butler, IJ, Kasarskis, EJ & Dobyns, WB 1996, 'Variable phenotype of rapid-onset dystonia-parkinsonism', Movement Disorders, vol. 11, no. 2, pp. 151-156. https://doi.org/10.1002/mds.870110206
Brashear, A. ; Farlow, Martin ; Butler, I. J. ; Kasarskis, E. J. ; Dobyns, W. B. / Variable phenotype of rapid-onset dystonia-parkinsonism. In: Movement Disorders. 1996 ; Vol. 11, No. 2. pp. 151-156.
@article{c3852e3cb3674c4cbdf3917200dd6ec5,
title = "Variable phenotype of rapid-onset dystonia-parkinsonism",
abstract = "Rapid-onset dystonia-parkinsonism (RDP) is an autosomal dominant disorder characterized by the rapid onset of dystonic spasms and parkinsonism over a period of a few hours to weeks after their onset. We have seen two additional members of this previously reported family with RDP who present with a more gradual progression of their disorder over 6-18 months. One of these individuals experienced the rapid progression of symptoms 2 years after an initial stabilization of his condition. The RDP phenotype is variable, and presentation may be gradual in some cases. Cerebrospinal fluid neurotransmitter levels in these two and other family members suggest involvement of the dopaminergic pathways in RDP.",
keywords = "Dopamine, Dystonia, Homovanillic acid, Parkinsonism, Parkinsonism, Rapid-onset dystonia",
author = "A. Brashear and Martin Farlow and Butler, {I. J.} and Kasarskis, {E. J.} and Dobyns, {W. B.}",
year = "1996",
doi = "10.1002/mds.870110206",
language = "English",
volume = "11",
pages = "151--156",
journal = "Movement Disorders",
issn = "0885-3185",
publisher = "John Wiley and Sons Inc.",
number = "2",

}

TY - JOUR

T1 - Variable phenotype of rapid-onset dystonia-parkinsonism

AU - Brashear, A.

AU - Farlow, Martin

AU - Butler, I. J.

AU - Kasarskis, E. J.

AU - Dobyns, W. B.

PY - 1996

Y1 - 1996

N2 - Rapid-onset dystonia-parkinsonism (RDP) is an autosomal dominant disorder characterized by the rapid onset of dystonic spasms and parkinsonism over a period of a few hours to weeks after their onset. We have seen two additional members of this previously reported family with RDP who present with a more gradual progression of their disorder over 6-18 months. One of these individuals experienced the rapid progression of symptoms 2 years after an initial stabilization of his condition. The RDP phenotype is variable, and presentation may be gradual in some cases. Cerebrospinal fluid neurotransmitter levels in these two and other family members suggest involvement of the dopaminergic pathways in RDP.

AB - Rapid-onset dystonia-parkinsonism (RDP) is an autosomal dominant disorder characterized by the rapid onset of dystonic spasms and parkinsonism over a period of a few hours to weeks after their onset. We have seen two additional members of this previously reported family with RDP who present with a more gradual progression of their disorder over 6-18 months. One of these individuals experienced the rapid progression of symptoms 2 years after an initial stabilization of his condition. The RDP phenotype is variable, and presentation may be gradual in some cases. Cerebrospinal fluid neurotransmitter levels in these two and other family members suggest involvement of the dopaminergic pathways in RDP.

KW - Dopamine

KW - Dystonia

KW - Homovanillic acid

KW - Parkinsonism

KW - Parkinsonism

KW - Rapid-onset dystonia

UR - http://www.scopus.com/inward/record.url?scp=0030009709&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030009709&partnerID=8YFLogxK

U2 - 10.1002/mds.870110206

DO - 10.1002/mds.870110206

M3 - Article

C2 - 8684384

AN - SCOPUS:0030009709

VL - 11

SP - 151

EP - 156

JO - Movement Disorders

JF - Movement Disorders

SN - 0885-3185

IS - 2

ER -