7 posts found

MR imaging detects metabolic alterations in brain of ADHD subjects

The attention deficit/hyperactivity disorder (ADHD) is the most common neuropsychiatric disorder in children and adolescents. It may persist until the adult age in 30-50% of cases. Among the characteristic traits of the ADHD, there can be found the propensity for risk-taking and the inclination to the abuse of substances and to the gambling. The subjects […]

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Modulation of inhibitory networks by gephyrin

The glycinergic and the GABAergic neurotransmission are essential inhibitory networks. Glycinergic synapses are mostly present in the spinal cord, brainstem and retina, while GABAergic synapses are preponderant in the fore-brain. Anyway, both types of receptors are often together at post-synaptic regions, thus regulating the neurotransmission at the same time but with different action mechanisms. GABAA […]

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A step towards the description of the natural history of succinic semialdehyde dehydrogenase (SSADH) deficiency

The natural history of a disease is defined as its progression over time, in the absence of treatment. Thus, for inherited inborn errors of metabolism, which are normally identified and treated in childhood, it is often unknown. A group of physicians from Canada recently described in the journal Neurology some features of the natural history in adulthood of succinic semialdehyde dehydrogenase (SSADH) deficiency, an autosomal recessive disorder characterized by the lack of the enzyme involved in the degradation of the neurotransmitter GABA, which in turn leads to an accumulation of gamma-hydroxybutyric acid.

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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 […]

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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 […]

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