title: Levodopa is not a useful treatment for Lesch-Nyhan disease.
abstract: 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 worsening of motor function. The results provide important clues for pathophysiological mechanisms and suggestions for future treatment options.
authors.affiliation: Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. j.visser@neuro.umcn.nl
authors.forename: Jasper E
authors.initials: JE
authors.lastname: Visser
authors.forename: David J
authors.initials: DJ
authors.lastname: Schretlen
authors.forename: Bastiaan R
authors.initials: BR
authors.lastname: Bloem
authors.forename: Hyder A
authors.initials: HA
authors.lastname: Jinnah
mesh_terms: D000328:Adult; D000978:Antiparkinson Agents; D002648:Child; D002675:Child, Preschool; D000075202:Contraindications; D005260:Female; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000188:drug therapy*; D007980:Levodopa; D008297:Male; D016896:Treatment Outcome
chemical_list: D000978:Antiparkinson Agents; D007980:Levodopa