The Rett syndrome (RTT) and the Autism Spectrum Disorder (ASD) are neurodevelopmental disorders which, although presenting different symptoms and evolution, are linked by a common factor: mutations in the same gene, called MECP2. But the answers on how and why the same gene could have a key role in the development of both diseases have […]
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Posts with tag 'autism'
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 […]
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 […]
