Objective To investigate the delay in diagnosis, residual motor signs, and nonmotor signs of
dopa-responsive dystonia (DRD) using literature and our own pilot data. Design, Setting …

Background Identifying hereditary parkinsonism is valuable for diagnosis, genetic
counseling, patient prioritization in trials, and studying the disease for personalized …

Background Targeted re-sequencing is one of the most powerful and widely used strategies
for population genetics studies because it allows an unbiased screening for variation that is …

Mutation detection in the guanosine triphosphate cyclohydrolase I gene (GCH1) was
performed from 4 female patients with dopa‐responsive dystonia (DRD). DNA sequencing …

Introduction Although the diurnal fluctuation of motor dysfunction, reversible with small
doses of dopamine, is a cornerstone for the phenotype of the autosomal dominant Segawa …

Objective Autosomal dominant (AD) guanosine triphosphate cyclohydrolase 1 (GCH1)
deficiency is the most common cause of dopa-responsive dystonia (DRD). Patients with …

Background: Dopa‐responsive dystonia (DRD), a movement disorder characterized by
onset in early childhood and a dramatic response to low doses of levodopa, has been …

INTRODUCTION: Parkinson's disease (PD) is a neurodegenerative disorder influenced by
both genetic and environmental factors, with approximately 15% of cases attributed to …

Segawa disease is a rare disorder presenting gait disturbance and dystonia with marked
fluctuation, and caused by GTP cyclohydrolase 1 (GCH1) deficiency. Our 15-year-old patient …

Introducción. En 2009, neuropediatras y neurólogos del Hospital Universitario Reina Sofia
describieron un posible efecto fundador de la enfermedad de Segawa autosomica …