Case Reports
doi: 10.1212/wnl.59.8.1241.
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome
Affiliations
- PMID: 12391354
- DOI: 10.1212/wnl.59.8.1241
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Case Reports
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome
Neurology.
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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).
Comment in
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Inherited myoclonus-dystonia: how many causative genes and clinical phenotypes?Neurology. 2002 Oct 22;59(8):1130-1. doi: 10.1212/wnl.59.8.1130. Neurology. 2002. PMID: 12391338 No abstract available.
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