title: Treatment of motor and behavioural symptoms in three Lesch-Nyhan patients with intrathecal baclofen.
abstract: Current therapies for the Lesch-Nyhan Syndrome (OMIM: 300322) are off-label and experimental, often leading to inconsistent outcomes. We here report the effects of an intrathecal baclofen therapy, carried out at the Scientific Institute Eugenio Medea (Lecco, Italy), on three patients who no longer received benefit from previous therapies. This treatment, as expected, ameliorated the motor symptoms and, unexpectedly, it also improved behavioural components. This result may involve a functional interaction between baclofen and dopamine, complemented by an anxiolytic effect. Our observations provide the rationale for the use of intrathecal baclofen administration in the therapy of the Lesch-Nyhan Syndrome.
authors.forename: Marco
authors.initials: M
authors.lastname: Pozzi
authors.forename: Luigi
authors.initials: L
authors.lastname: Piccinini
authors.forename: Maurizio
authors.initials: M
authors.lastname: Gallo
authors.forename: Francesco
authors.initials: F
authors.lastname: Motta
authors.forename: Sonia
authors.initials: S
authors.lastname: Radice
authors.affiliation: Scientific Institute IRCCS Eugenio Medea, 23842 Bosisio Parini, Lecco, Italy. emilio.clementi@unimi.it.
authors.forename: Emilio
authors.initials: E
authors.lastname: Clementi
mesh_terms: D000328:Adult; D001418:Baclofen / Q000008:administration & dosage*; D001526:Behavioral Symptoms / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy*; D008297:Male; D019957:Motor Skills Disorders / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy*; D016728:Self-Injurious Behavior / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy*; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D001418:Baclofen