title: Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.
abstract: The authors report a kindred in which GTP-CH deficiency resulted in a myoclonus-dystonia syndrome. The proband, a 17-year-old boy, presented with early-onset myoclonus and later, dystonia and bradykinesia. Blood prolactin was increased and CSF homovanillic acid, 5-hydroxyindoleacetic acid, and biopterin were all reduced. L-Dopa/carbidopa administration resulted in clinical improvement. In the paternal branch, the grandfather and three relatives had myoclonus-dystonia and resting or postural tremor of limbs. The authors found a missense mutation in the exon 6 of GCH-1 gene (K224R).
authors.affiliation: Department of Child Neurology and Psychiatry, University of Rome, La Sapienza, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Leuzzi
authors.forename: Ca
authors.initials: C
authors.lastname: Carducci
authors.forename: Cl
authors.initials: C
authors.lastname: Carducci
authors.forename: F
authors.initials: F
authors.lastname: Cardona
authors.forename: C
authors.initials: C
authors.lastname: Artiola
authors.forename: I
authors.initials: I
authors.lastname: Antonozzi
mesh_terms: D000293:Adolescent; D000328:Adult; D003937:Diagnosis, Differential; D004421:Dystonia / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006136:GTP Cyclohydrolase / Q000172:deficiency* / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics; D009207:Myoclonus / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
chemical_list: D007980:Levodopa; D006136:GTP Cyclohydrolase