Ontology highlight
ABSTRACT:
SUBMITTER: Visser JE
PROVIDER: S-EPMC3523804 | biostudies-literature | 2011 Mar
REPOSITORIES: biostudies-literature
Visser Jasper E JE Schretlen David J DJ Bloem Bastiaan R BR Jinnah Hyder A HA
Movement disorders : official journal of the Movement Disorder Society 20110131 4
Lesch-Nyhan disease (LND) is characterized by dystonia, cognitive abnormalities, and self-injurious behavior. No effective therapies are available. LND is associated with a presynaptic dopaminergic deficit, but the reported effects of dopamine replacement therapy are conflicting. The current prospective open-label study assesses the effects of levodopa on both neurological and behavioral features of LND. All 6 study participants discontinued levodopa early, due to lack of effect and sometimes wo ...[more]