Article
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.
Journal of neurology, neurosurgery, and psychiatry - 1 Aug 2009
Trender-Gerhard I, Sweeney M G, Schwingenschuh P, Mir P, Edwards M J, Gerhard A, Polke J M, Hanna M G, Davis M B, Wood N W, Bhatia K P
Abstract excerpt
BACKGROUND: An autosomal dominantly inherited defect in the GCH1 gene that encodes guanosine triphosphate cyclohydrolase 1 (GTPCH1) is the most common cause of dopa-responsive dystonia (DRD). A classic phenotype of young-onset lower-limb dystonia, diurnal fluctuations and excellent response to levodopa has been well recognised in association with GCH1 mutations, and rare atypical presentations have been reported....
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