Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.
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).
Leuzzi
V
V
Department of Child Neurology and Psychiatry, University of Rome, La Sapienza, Italy.
Carducci
Ca
C
Carducci
Cl
C
Cardona
F
F
Artiola
C
C
Antonozzi
I
I
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
D007980:Levodopa; D006136:GTP Cyclohydrolase