Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.17/2336
Título: Evaluation of CSF Neurotransmitters and Folate in 25 Patients with Rett Disorder and Effects of Treatment
Autor: Temudo, T
Rios, M
Prior, C
Carrilho, I
Santos, M
Maciel, P
Sequeiros, J
Fonseca, M
Monteiro, J
Cabral, P
Vieira, JP
Ormazabal, A
Artuch, R
Palavras-chave: Folic Acid/cerebrospinal fluid
Leucovorin/therapeutic use
Neurotransmitter Agents/cerebrospinal fluid
Rett Syndrome/cerebrospinal fluid
Rett Syndrome/drug therapy
Administration, Oral
Folic Acid/analogs & derivatives
Fluoxetine/therapeutic use
Fluoxetine/administration & dosage
Homovanillic Acid/cerebrospinal fluid
Hydroxyindoleacetic Acid/cerebrospinal fluid
Leucovorin/administration & dosage
Methyl-CpG-Binding Protein 2/genetics
Polymerase Chain Reaction
Rett Syndrome/genetics
Seizures/drug therapy
Serotonin Uptake Inhibitors/administration & dosage
Stereotyped Behavior/drug effects
Treatment Outcome
Vitamin B Complex/therapeutic use
Data: 2009
Editora: Elsevier
Citação: Brain Develop. 2009 Jan; 31 (1): 46-51
Resumo: 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.
Peer review: yes
URI: http://hdl.handle.net/10400.17/2336
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