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.
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Authors | Eduardo López-Laso, Rafael Camino, Maria Elena Mateos, Juan Luis Pérez-Navero, Juan José Ochoa, José Ignacio Lao-Villadóniga, Aida Ormazabal, Rafael Artuch |
Journal | Journal of the neurological sciences
(J Neurol Sci)
Vol. 256
Issue 1-2
Pg. 90-3
(May 15 2007)
ISSN: 0022-510X [Print] Netherlands |
PMID | 17368676
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Antiparkinson Agents
- Levodopa
- GTP Cyclohydrolase
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Topics |
- Antiparkinson Agents
(adverse effects)
- Family Health
- Female
- GTP Cyclohydrolase
(deficiency)
- Humans
- Hypokinesia
(chemically induced, physiopathology)
- Infant
- Levodopa
(adverse effects)
- Male
- Muscle Rigidity
- Retrospective Studies
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