Dopa-Responsive Dystonia Presenting as Delayed and Awkward Gait - 07/08/11
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, Sarah N.R. Cheyette, MD †, Kristina Cusmano-Ozog, MD ‡, Gregory M. Enns, MB, ChB ‡ Department of Psychiatry, Center for Neurobiology and Psychiatry, University of California at San Francisco, San Francisco, California Communications should be addressed to: Dr. B. Cheyette; MC 2611; 1550 4th St., Rock Hall Room 284D; San Francisco, CA 94158-2324.Résumé |
Dopa-responsive dystonia is a hereditary disease characterized by inadequate dopamine production. Autosomal-dominant cases result from mutations in the GCH1 gene, encoding guanosine triphosphate (GTP)-cyclohydrolase 1. The most common presenting manifestation is dystonia of a lower extremity, often worsening late in the day. The onset and clinical severity are variable, sometimes even within a single family. Gender effects on allele penetrance have been reported. We present a male toddler with dopa-responsive dystonia caused by an autosomal-dominant GCH1 mutation. Three other family members were also found to carry the mutation, with widely different functional consequences.
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Vol 38 - N° 4
P. 273-275 - avril 2008 Retour au numéro
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