title: Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders.
abstract: Abnormal concentrations of dopamine and serotonin metabolites in the cerebrospinal fluid is the diagnostic hallmark of a group of treatable conditions known as the monoamine neurotransmitter disorders. We assessed cerebrospinal fluid dopamine and serotonin metabolite concentrations in a series of 69 patients affected by movement disorders of unknown etiology. Abnormal results were disclosed in 13/69 subjects (19%). Both primary and secondary monoamine neurotransmitter disorders were observed. The clinical presentation of both forms was hypokinetic-rigid syndrome or dystonia. L-Dopa treatment resulted in significant improvement of the clinical picture in the majority of primary neurotransmitter disorders. Eight patients presented a secondary neurotransmitter disorder. One suffered from a GM2 gangliosidosis and one from infantile bilateral striatal necrosis. Etiologic diagnoses were not established in the others. L-Dopa was started in four patients, leading to a significant improvement of hypokinesia in the patient suffering from GM2 gangliosidosis and a slight improvement in 3 unclassified patients.
authors.affiliation: Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS, Milan, Italy Child Neuropsychiatry Unit, Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Tonduti
authors.affiliation: Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS, Milan, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Zorzi
authors.affiliation: Unit of Molecular Neurogenetics, Neurological Institute C. Besta Foundation IRCCS, Milan, Italy.
authors.forename: Daniele
authors.initials: D
authors.lastname: Ghezzi
authors.affiliation: Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS, Milan, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Zibordi
authors.affiliation: Unit of Molecular Neurogenetics, Neurological Institute C. Besta Foundation IRCCS, Milan, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Garavaglia
authors.affiliation: Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS, Milan, Italy Nardo.Nardocci@istituto-besta.it.
authors.forename: Nardo
authors.initials: N
authors.lastname: Nardocci
mesh_terms: D000293:Adolescent; D018726:Anti-Dyskinesia Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D009069:Movement Disorders / Q000134:cerebrospinal fluid* / Q000188:drug therapy; D018377:Neurotransmitter Agents / Q000134:cerebrospinal fluid*; D055815:Young Adult
chemical_list: D018726:Anti-Dyskinesia Agents; D018377:Neurotransmitter Agents; D007980:Levodopa
keywords: dystonia; hypokinetic-rigid syndrome; movement disorders; neurotransmitter disorders