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Scoliosis in a dopa-responsive dystonia family with a mutation of the GTP cyclohydrolase I gene

Patients with the classic phenotype of autosomal dominant dopa-responsive dystonia (DRD), in which mutations in the gene ( GCH1 ) coding for GTP cyclohydrolase I (GTPCH; the enzyme in the biosynthetic pathway of tetrahydrobiopterin, the cofactor for tyrosine hydroxylase) have been identified, develop childhood-onset foot dystonia spreading to other body parts.1 The clinical phenotype of genetically proved GTPCH-deficient DRD has been extended to include focal dystonia and adult-onset parkinsonism (see Furukawa and Kish1 for details). Scoliosis may be a clinical feature of DRD (increased lumbar lordosis or scoliosis can be found in 42% of patients with DRD at full expression) and sometimes relatives of index DRD patients only demonstrate this abnormal spinal curvature.2-5 However, it is unknown whether “isolated” scoliosis in DRD pedigrees is a phenotypic expression of a GCH1 mutation or an independent condition. We conducted sequencing of GCH1 in a DRD family, in which the proband developed generalized dystonia and scoliosis and three relatives …