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Evaluation of CSF Neurotransmitters and Folate in 25 Patients with Rett Disorder and Effects of Treatment

2009Journal article Open access
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dc.contributor.authorTemudo, T
dc.contributor.authorRios, M
dc.contributor.authorPrior, C
dc.contributor.authorCarrilho, I
dc.contributor.authorSantos, M
dc.contributor.authorMaciel, P
dc.contributor.authorSequeiros, J
dc.contributor.authorFonseca, M
dc.contributor.authorMonteiro, J
dc.contributor.authorCabral, P
dc.contributor.authorVieira, JP
dc.contributor.authorOrmazabal, A
dc.contributor.authorArtuch, R
dc.date.accessioned2015-11-11T11:58:18Z
dc.date.available2015-11-11T11:58:18Z
dc.date.issued2009
dc.description.abstractBackground: 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.pt_PT
dc.identifier.citationBrain Develop. 2009 Jan; 31 (1): 46-51pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2336
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.subjectFolic Acid/cerebrospinal fluidpt_PT
dc.subjectLeucovorin/therapeutic usept_PT
dc.subjectNeurotransmitter Agents/cerebrospinal fluidpt_PT
dc.subjectRett Syndrome/cerebrospinal fluidpt_PT
dc.subjectRett Syndrome/drug therapypt_PT
dc.subjectAdministration, Oralpt_PT
dc.subjectFolic Acid/analogs & derivativespt_PT
dc.subjectFluoxetine/therapeutic usept_PT
dc.subjectFluoxetine/administration & dosagept_PT
dc.subjectHomovanillic Acid/cerebrospinal fluidpt_PT
dc.subjectHydroxyindoleacetic Acid/cerebrospinal fluidpt_PT
dc.subjectLeucovorin/administration & dosagept_PT
dc.subjectMethyl-CpG-Binding Protein 2/geneticspt_PT
dc.subjectPolymerase Chain Reactionpt_PT
dc.subjectRett Syndrome/geneticspt_PT
dc.subjectSeizures/drug therapypt_PT
dc.subjectSerotonin Uptake Inhibitors/administration & dosagept_PT
dc.subjectStereotyped Behavior/drug effectspt_PT
dc.subjectTreatment Outcomept_PT
dc.subjectVitamin B Complex/therapeutic usept_PT
dc.subjectChildpt_PT
dc.subjectHDE NEU PEDpt_PT
dc.titleEvaluation of CSF Neurotransmitters and Folate in 25 Patients with Rett Disorder and Effects of Treatmentpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage51pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage46pt_PT
oaire.citation.volume31pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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