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Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene. 2000
Y Furukawa, and
M Guttman, and
S P Sparagana, and
J M Trugman, and
K Hyland, and
P Wyatt, and
A E Lang, and
G A Rouleau, and
M Shimadzu, and
S J Kish
Centre for Addiction and Mental Health, Clarke Division, Toronto, Ontario, Canada.
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.
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