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GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs.

Authors
  • Jarman, P R1
  • Bandmann, O
  • Marsden, C D
  • Wood, N W
  • 1 University Department of Clinical Neurology, Institute of Neurology, Queen Square, London, UK.
Type
Published Article
Journal
Journal of neurology, neurosurgery, and psychiatry
Publication Date
September 1997
Volume
63
Issue
3
Pages
304–308
Identifiers
PMID: 9328244
Source
Medline
License
Unknown

Abstract

These findings show that a proportion of patients with apparent primary torsion dystonia and a good response to anticholinergic drugs have GCH1 mutations and therefore have a variant of dopa responsive dystonia. The difficulty in distinguishing clinically between patients with and without mutations underscores the importance of considering the diagnosis of a levodopa responsive dystonia in all such patients.

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