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Article

Genetics and biochemistry of dopa-responsive dystonia: significance of striatal tyrosine hydroxylase protein loss.

Advances in neurology - 1 Jan 2003

Furukawa Yoshiaki

Abstract excerpt

Notwithstanding the discovery of GCH1 and TH mutations in autosomal-dominant and autosomal-recessive DRD, respectively, a therapeutic trial with levodopa is still the most practical approach to the diagnosis of DRD. The trial needs to be considered in all children with dystonic and/or parkinsonian symptoms or with unexplained gait disorders. Further accumulation of patients with TH-deficient DRD (the mild form of...

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Identifiers

PMID: 12442699

Genes

GCH1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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