Article
Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment.
Brain & development - 1 Jan 2009
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
Abstract excerpt
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...
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