Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome
- 22 October 2002
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 59 (8) , 1241-1243
- https://doi.org/10.1212/wnl.59.8.1241
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).Keywords
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