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Neurology 2002;59:1241-1243 © 2002 American Academy of Neurology Brief Communications Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndromeFrom the Department of Child Neurology and Psychiatry (Drs. Leuzzi and Cardona), and Department of Experimental Medicine and Pathology (Drs. Ca. Carducci, Cl. Carducci, Artiola, and Antonozzi), University of Rome, "La Sapienza," Italy. Address correspondence and reprint requests to Dr. Vincenzo Leuzzi, Istituto di Neuropsichiatria Infantile, Via dei Sabelli 108, 00185 Roma, Italy; e-mail: leuzziv{at}katamail.com 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). This article has been cited by other articles:
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