GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs.
University Department of Clinical Neurology, Institute of Neurology, Queen Square, London, UK.
- Published Article
Journal of neurology, neurosurgery, and psychiatry
- Publication Date
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.
Report this publication
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.
This record was last updated on 07/07/2017 and may not reflect the most current and accurate biomedical/scientific data available from NLM.
The corresponding record at NLM can be accessed at https://www.ncbi.nlm.nih.gov/pubmed/9328244