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https://hdl.handle.net/1822/67646
Título: | Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment |
Autor(es): | Temudo, T. Rios, M. Prior, C. Carrilho, I. Santos, M. Maciel, P. Sequeiros, J. Fonseca, M. Monteiro, J. Cabral, P. Vieira, J. P. Ormazabal, A. Artuch, R. |
Palavras-chave: | Administration, Oral Child Child, Preschool DNA Mutational Analysis Female Fluoxetine Folic Acid Homovanillic Acid Humans Hydroxyindoleacetic Acid Leucovorin Methyl-CpG-Binding Protein 2 Mutation Neurotransmitter Agents Polymerase Chain Reaction Rett Syndrome Seizures Serotonin Uptake Inhibitors Stereotyped Behavior Treatment Outcome Vitamin B Complex Neurotransmitters Folate Movement disorders |
Data: | Jan-2009 |
Editora: | Elsevier 1 |
Revista: | Brain & Development |
Resumo(s): | Background: Rett disorder (RD) is a progressive neurodevelopmental entity caused by mutations in the MECP2 gene. It has been postulated that there are alterations in the levels of certain neurotransmitters and folate in the pathogenesis of this disease. Here we re-evaluated this hypothesis. Patients and methods: We evaluated CSF folate, biogenic amines and pterines in 25 RD patients. Treatment with oral folinic acid was started in those cases with low folate. Patients were clinically evaluated and videotaped up to 6 months after therapy. Results: CSF folate was below the reference values in 32% of the patients. Six months after treatment no clinical improvement was observed. Three of the four patients with the R294X mutation had increased levels of a dopamine metabolite associated to a particular phenotype. Three patients had low levels of a serotonin metabolite. Two of them were treated with fluoxetine and one showed clinical improvement. No association was observed between CSF folate and these metabolites, after adjusting for the patients age and neopterin levels. Conclusion: Our results support that folinic acid supplementation has no significant effects on the course of the disease. We report discrete and novel neurotransmitter abnormalities that may contribute to the pathogenesis of RD highlighting the need for further studies on CSF neurotransmitters in clinically and genetically well characterized patients. |
Tipo: | Artigo |
URI: | https://hdl.handle.net/1822/67646 |
DOI: | 10.1016/j.braindev.2008.05.003 |
ISSN: | 0387-7604 |
e-ISSN: | 1872-7131 |
Arbitragem científica: | yes |
Acesso: | Acesso aberto |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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Temudo-2009-Evaluation-of-csf-neurotransmitters.pdf | 197,85 kB | Adobe PDF | Ver/Abrir |