| Literature DB >> 17368676 |
Eduardo López-Laso1, Rafael Camino, Maria Elena Mateos, Juan Luis Pérez-Navero, Juan José Ochoa, José Ignacio Lao-Villadóniga, Aida Ormazabal, Rafael Artuch.
Abstract
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.Entities:
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Year: 2007 PMID： 17368676 DOI： 10.1016/j.jns.2007.02.007
Source DB: PubMed Journal: J Neurol Sci ISSN： 0022-510X Impact factor: 3.181