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Variable phenotype of rapid-onset dystonia-parkinsonism

✍ Scribed by Dr. A. Brashear; M. R. Farlow; I. J. Butler; E. J. Kasarskis; W. B. Dobyns

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
458 KB
Volume
11
Category
Article
ISSN
0885-3185

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✦ Synopsis

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 neurotransmiter levels in these two and other family members suggest involvement of the dopaminergic pathways in RDP.

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