A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment.

Maeve BradleyShane LyonsSarah ColemanRoisin VanceFiona MolloyPeter Widdess-Walsh

Published in: Tremor and other hyperkinetic movements (New York, N.Y.) (2021)

Mutations in the GCH-1 gene are associated with Autosomal Dominant Dopamine Responsive Dystonia which is typically defined by dramatic responses to low doses of levodopa. We report a patient with genetically confirmed Dopa-Responsive Dystonia who had no response to low dose Levodopa but who achieved symptom control with 900 mg/day.

Keyphrases

deep brain stimulation
parkinson disease
low dose
cancer therapy
early onset
high dose
case report
uric acid
drug delivery
genome wide
metabolic syndrome
dna methylation
combination therapy
genome wide analysis