[Autosomal-dominant DOPA-responsive dystonia, caused by mutations in the GTP-cyclohydrolase I gene].

Article

[Autosomal-dominant DOPA-responsive dystonia, caused by mutations in the GTP-cyclohydrolase I gene].

Voprosy meditsinskoi khimii - 1 Jan 2000

Nagatsu T, Ichinose H

Abstract excerpt

The development of autosomal dominant DOPA-responsive dystonia (AD-DRD) is stipulated by mutation in GTP-cyclohydrolase I gene. GTP-cyclohydrolase I is the first and key enzyme of tetrahydrobiopterin biosynthesis. Its deficiency in nigrostriatal dopaminergic neurons cause a decrease in tyrosine h...

Topics

Dihydroxyphenylalanine
Dystonia
GTP Cyclohydrolase
Genes, Dominant
Genes, Recessive
Humans
Mutation
Parkinson Disease

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