Las asociaciones de pacientes realizan tareas de enorme interés. En el campo de las enfermedades raras, éstas parecen aún más necesarias. Se está creando una asociación de pacientes y familiares afectos de enfermedades de los neurotransmisores (errores congénitos del metabolismo de los neurotransmisores). Su nombre es: De Neu. Asociación De Enfermedades de los Neurotransmisores. Estas […]
Synaptic metabolism
Glutamatergic receptor disorders in children
What do you know about glutamatergic transmission? What kind of neuropaediatric disorders are related to glutamatergic receptor mutations? What kind of symptoms could be associated with abnormal glutamatergic transmission? Glutamate is the most abundant excitatory neurotransmitter in the nervous system and it plays a key role in long-term potentiation (LTP). LTP is involved […]
Official launch of the CGB network
“Connecting The Growing Brain” http://www.connectingthegrowingbrain.com. Network of paediatric neurologists and basic researchers that aims to understand the developing brain through synaptic communication. Today we are pleased to announce the official launch of the network “Connecting the growing brain” (CGB). We are a group of pediatric neurologists and basic researchers working together to understand how dysfunctions […]
Abnormal Gabaergic transmission in Rett syndrome
Neurons may remain immature concerning GABAergic neurotransmission in Rett syndrome Abnormal expression of cation chloride cotransporters has been found in the cerebrospinal fluid of patients with Rett syndrome (RTT). This finding suggest an abnormal GABaergic transmission and neuronal maturation. According to these results, neurons of RTT patients could remain “immature” regarding GABA excitability, as it […]
Interneuronas, GABA y enfermedades neuropediátricas
What do you know about interneurons? Which processes do you think they regulate? How could dysfunction in interneurons and abnormal gabaergic transmission contribute to the pathophysiology of some neuropaediatric disorders? Interneurons were classically described as short-axon neurons with connections between “input” and “output” principal cells and were recognized for their role in modulating excitability via […]