Document Detail

Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.
MedLine Citation:
PMID:  12391354     Owner:  NLM     Status:  MEDLINE    
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).
V Leuzzi; Ca Carducci; Cl Carducci; F Cardona; C Artiola; I Antonozzi
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Neurology     Volume:  59     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  2002 Oct 
Date Detail:
Created Date:  2002-10-22     Completed Date:  2002-11-14     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1241-3     Citation Subset:  AIM; IM    
Department of Child Neurology and Psychiatry, University of Rome, La Sapienza, Italy.
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MeSH Terms
Diagnosis, Differential
Dystonia / diagnosis,  drug therapy,  enzymology,  genetics*
GTP Cyclohydrolase / deficiency*,  genetics*
Genes, Dominant / genetics
Heterozygote Detection
Levodopa / therapeutic use*
Middle Aged
Mutation, Missense / genetics
Myoclonus / diagnosis,  drug therapy,  enzymology,  genetics*
Reg. No./Substance:
0/Levodopa; EC Cyclohydrolase
Comment In:
Neurology. 2002 Oct 22;59(8):1130-1   [PMID:  12391338 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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