GTP cyclohydrolase I
Analysis of the genetic variability in Parkinson's disease from Southern Spain.
Granada, Spain. In Neurobiol Aging, Jan 2016
Genetic analysis was performed through a next-generation sequencing panel to screen 8 PD-related genes (LRRK2, SNCA, PARKIN, PINK1, DJ-1, VPS35, GBA, and GCH1) in EOPD and FPD groups and direct Sanger sequencing of GBA exons 8-11 and LRRK2 exons 31 and 41 in the LOPD group.
Dopa-responsive dystonia--clinical and genetic heterogeneity.
Houston, United States. In Nat Rev Neurol, Jul 2015
Autosomal dominant GTP cyclohydrolase 1 deficiency, also known as Segawa disease, is the most common and best-characterized condition that manifests as DRD, but a similar presentation can be seen with genetic abnormalities that lead to deficiencies in tyrosine hydroxylase, sepiapterin reductase or other enzymes that are involved in the biosynthesis of dopamine.
Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.
London, United Kingdom. In Eur J Neurol, Apr 2015
Clinical and genetic heterogeneity also characterizes myoclonus-dystonia, which includes not only the classical phenotype associated with epsilon-sarcoglycan mutations but rarely also presentation of ANO3 gene mutations, TITF1 gene mutations typically underlying benign hereditary chorea, and some dopamine synthesis pathway conditions due to GCH1 and TH mutations.
A review of the role of genetic testing in pain medicine.
Indianapolis, United States. In Pain Physician, 2014
METHODS: This article discusses the specific pain implications of genetic variations in CYP1A2, CYP2C8, CYP2C9, CYP2C19, CYP2D6, CYP2E1, CYP3A4, CYP3A7, OPRM1, OPRK1, OPRD1, COMT, GABA, UGT, MC1R, GCH1, ABCB1, P-glycoprotein, 5HTR1A, 5HTR2A, MTHFR, CACNA2D2, and 5-HTTLPR.
The current status of gene therapy for Parkinson's disease.
Tochigi, Japan. In Ann Neurosci, 2010
The delivery of triple genes including tyrosine hydroxylase (TH), guanosine triphosphate cyclohydrolase I (GCH) and AADC is also being undertaken, and is aimed at continuously supplying dopamine into the putamen.