✦ LIBER ✦
Dopa-responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?
✍ Scribed by Ronald B. Postuma; Yoshiaki Furukawa; Ekaterina Rogaeva; Peter H. St. George-Hyslop; Matt J. Farrer; Anthony E. Lang
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 725 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0885-3185
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✦ Synopsis
Abstract
We report on a GTP cyclohydrolase 1 mutation‐confirmed case of dopa‐responsive dystonia who presented with an isolated parkinsonian rest tremor starting at the age of 15 years. There was no dystonia or other features of parkinsonism. Sequencing of the parkin gene demonstrated polymorphisms in a compound heterozygous state. The spectrum of unusual clinical presentations of dopa‐responsive dystonia is discussed. © 2003 Movement Disorder Society