Dopa-responsive akinesia: Homozygous GCH1 mutation (P5.150)

CONCLUSIONS: Akinesia without rigidity has not been described in subjects with GCH1 mutation. This report extends the clinical spectrum of GCH1 mutations and other dopa-responsive syndromes and permits greater recognition of this treatable disorder.Disclosure: Dr. Lineback has nothing to disclose. Dr. Manteuffel Jensen has nothing to disclose. Dr. Wilcock has nothing to disclose. Dr. Fink has received personal compensation for activities with Athena Diagnostics Laboratory as a speaker.
Source: Neurology - Category: Neurology Authors: Tags: Child Neurology and Developmental Neurology: Genetics Source Type: research