These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
Pubmed for Handhelds
PUBMED FOR HANDHELDS
Search MEDLINE/PubMed
Title: Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene. Author: Furukawa Y, Guttman M, Sparagana SP, Trugman JM, Hyland K, Wyatt P, Lang AE, Rouleau GA, Shimadzu M, Kish SJ. Journal: Ann Neurol; 2000 Apr; 47(4):517-20. PubMed ID: 10762165. Abstract: Although it is assumed that most patients with autosomal dominant dopa-responsive dystonia (DRD) have a GTP cyclohydrolase I dysfunction, conventional genomic DNA sequencing of the gene (GCH1) coding for this enzyme fails to reveal any mutations in about 40% of DRD patients, which makes molecular genetic diagnosis difficult. We found a large heterozygous GCH1 deletion, which cannot be detected by the usual genomic DNA sequence analysis, in a three-generation DRD family and conclude that a large genomic deletion in GCH1 may account for some "mutation-negative" patients with dominantly inherited DRD.[Abstract] [Full Text] [Related] [New Search]