Journal
JOURNAL OF THE NEUROLOGICAL SCIENCES
Volume 256, Issue 1-2, Pages 90-93Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jns.2007.02.007
Keywords
dopa-responsive dystonia; infantile hypokinetic rigid syndrome; GTP cyclohydrolase 1; GCH-1; levodopa
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We report on a GTP cyclohydrolase 1 mutation-confirmed heterozygous case presenting with an infantile hypokinetic rigid syndrome and delay in attainment of motor milestones starting from the first year of life. He had a family history of dopa-responsive dystonia-parkinsonism. CSF neopterin, biopterin and HVA values were decreased. Molecular study of GCH-1 gene showed the Q89X mutation in exon 1. Treatment with L-dopa resulted in a complete remission of symptoms. (C) 2007 Elsevier B.V. All rights reserved.
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