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.

Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders / D. Tonduti, G. Zorzi, D. Ghezzi, F. Zibordi, B. Garavaglia, N. Nardocci. - In: JOURNAL OF CHILD NEUROLOGY. - ISSN 0883-0738. - 30:13(2015 Nov), pp. 1800-1805. [10.1177/0883073815581608]

Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders

D. Tonduti;D. Ghezzi;
2015

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.
dystonia; hypokinetic-rigid syndrome; movement disorders; neurotransmitter disorders; adolescent; anti-dyskinesia agents; child; child, preschool; female; humans; infant; infant, newborn; levodopa; male; movement disorders; neurotransmitter agents; young adult; pediatrics, perinatology and child health; neurology (clinical)
Settore MED/03 - Genetica Medica
Settore MED/39 - Neuropsichiatria Infantile
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/523748
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