4 documents found, page 1 of 1
Impairment of Adenosinergic System in Rett syndrome: Novel Therapeutic Target t...
Miranda-Lourenço, C; Duarte, ST; Palminha, C; Gaspar, C; Rodrigues, TM; Magalhães-Cardoso, T; Rei, N; Colino-Oliveira, M; Gomes, R; Ferreira, S; Rosa, JRett syndrome (RTT; OMIM#312750) is mainly caused by mutations in the X-linked MECP2 gene (methyl-CpG-binding protein 2 gene; OMIM*300005), which leads to impairments in the brain-derived neurotrophic factor (BDNF) signalling. The boost of BDNF mediated effects would be a significant breakthrough but it has been hampered by the difficulty to administer BDNF to the central nervous system. Adenosine, an endogenou...
Cerebrospinal Fluid Synaptic Proteins as Useful Biomarkers in Tyrosine Hydroxyl...
Ortez, C; Duarte, S; Ormazábal, A; Serrano, M; Pérez, A; Pons, R; Pineda, M; Yapici, Z; Fernández-Álvarez, E; Domingo-Jiménez, R; De Castro, PTyrosine hydroxylase (TH) deficiency is an inborn error of dopamine biosynthesis and a cause of early parkinsonism. Two clinical phenotypes have been described. Type “B”: early onset severe encephalopathy; type “A”: later onset, less severe and better response to L-dopa. We aimed to study the expression of several key dopaminergic and gabaergic synaptic proteins in the cerebrospinal fluid (CSF) of a series of p...
Analysis of Synaptic Proteins in the Cerebrospinal Fluid as a New Tool in the S...
Duarte, S; Ortez, C; Pérez, A; Artuch, R; García-Cazorla, AAbstract In a few rare diseases, specialised studies in cerebrospinal fluid (CSF) are required to identify the underlying metabolic disorder. We aimed to explore the possibility of detecting key synaptic proteins in the CSF, in particular dopaminergic and gabaergic, as new procedures that could be useful for both pathophysiological and diagnostic purposes in investigation of inherited disorders of neurotransmis...
Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxystero...
Ortez, C; Villar, C; Fons, C; Duarte, ST; Pérez, A; García-Villoria, J; Ribes, A; Ormazábal, A; Casado, M; Campistol, Jaume; Vilaseca, MA17β-hydroxysteroid dehydrogenase 10 (HSD10) deficiency is a rare X-linked inborn error of isoleucine catabolism. Although this protein has been genetically implicated in Alzheimer's disease pathogenesis, studies of amyloid-β peptide (Aβ) in patients with HSD10 deficiency have not been previously reported. We found, in a severely affected child with HSD10 deficiency, undetectable levels of Aβ in the cerebrospina...