Relevant conflicts of interest/financial disclosures: Nothing to report. Full financial disclosures and author roles can be found in the online version of this article.
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Brief Report
Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter†
Article first published online: 14 SEP 2010
DOI: 10.1002/mds.23364
Copyright © 2010 Movement Disorder Society
Additional Information
How to Cite
Bodzioch, M., Lapicka-Bodzioch, K., Rudzinska, M., Pietrzyk, J. J., Bik-Multanowski, M. and Szczudlik, A. (2011), Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter. Mov. Disord., 26: 337–340. doi: 10.1002/mds.23364
- †
Publication History
- Issue published online: 14 MAR 2011
- Article first published online: 14 SEP 2010
- Manuscript Accepted: 28 JUN 2010
- Manuscript Revised: 21 JUN 2010
- Manuscript Received: 6 MAY 2010
Funded by
- Polish Ministry of Science and Higher Education. Grant Number: N R13 0038 04
- Abstract
- Article
- References
- Cited By
Keywords:
- GTP cyclohydrolase 1 deficiency;
- dopa-responsive dystonia;
- GCH1;
- promoter;
- dystonic encephalopathy
Abstract
In a recent GCH1 mutation screen, an 18-bp deletion was identified within the proximal promoter in two patients with early-onset Parkinson's disease. The mutation removes cAMP response element critical for adequate GTP cyclohydrolase I activity in selected cell types, including dopaminergic neurons, but its biological significance was unclear as it was also detected in one control individual. We present an 11-year-old boy with infantile-onset severe dystonic encephalopathy without hyperphenylalaninemia whom we found compound heterozygous for the same promoter GCH1 deletion and another common missense mutation associated with classical dopa-responsive dystonia. Extensive diagnostic work up excluded other causes of dystonia, and comprehensive mutation scan did not reveal any additional GCH1 sequence variations, supporting the association between the promoter deletion and disease phenotype. © 2010 Movement Disorder Society