Dystonia and Biopterin Deficiency

Abstract

Five patients with childhood dystonia associated with reduced CSF biopterin, responsive to levodopa, and characterized by diurnal and exertional variation are reported from the Developmental and Metabolic Neurology Branch, National Institute of Neurological and Communicative Disorders and Stroke, Bethesda, MD.

Keywords

• childhood dystonia
• pyramidal tract involvement
• hyperphenylalanemia