Influence of development and aging on brain biopterin: implications for dopa-responsive dystonia onset.

Abstract

Reduction of biopterin (BP) due to a mutation in the GTP-cyclohydrolase I gene causes hereditary progressive dystonia/dopa-responsive dystonia (HPD/DRD). To determine whether an age-related BP decline may contribute to HPD/DRD onset (from 1 to 13 years of age), we measured brain BP levels in 57 normal subjects ranging in age from 1 day to 92 years. Putaminal BP showed a significant increase in postnatal period, reaching a plateau at 1 to 13 years of age, and a decrease in adulthood. The HPD/DRD onset in childhood is unlikely to be caused by a brain BP decline during the first decade of life, but that in adulthood could be related to the age-dependent decrease.