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The diseases of the synaptic vesicles open the way to a new group of neurometabolic diseases

The Inborn Errors of Metabolism (IEM) have normally been considered as the result of errors at the genetic level affecting the biochemical pathways of small molecules such as the neurotransmitters glycine, glutamate, GABA, biogenic amines, etc. The altered concentration of such mole [...]Continue reading

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Central Serotonin Receptor 7 constitutes a potential therapeutic target for Rett Syndrome

Rett syndrome is a neurodevelopment disorder affecting around 1 out of 10,000 girls, usually due to de novo mutations in the X-located gene MECP2. It is a complex disorder, both clinically and at a molecular level, and is typically characterized by a neurodevelopment regression starting at age 6 to 18 months after a normal early […]

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The MECP2 gene and its role in the Rett syndrome

The Rett syndrome (RTT) is a neurological disorder caused by mutations which occur in the gene MECP2 (methyl-CpG-binding protein 2). This gene is located on the X chromosome, and the RTT affects only females – 1 every 10,000 – because the mutation of MECP2 in males is not viable. However, some isolated cases of boys […]

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Synaptic metabolism course

A course about synaptic metabolism of the Recordati Rare Disease Foundation will be held in Barcelona, Spain, on November 16 – 18, 2017. Participants are expected to have prior knowledge about the field: practical experience with diagnosis treatment, and/or basic research is recommended. Participants are also expected to present a case report relevant to the theme […]

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The gut-brain axis communication and its relationship with the neurological disorders

“We are what we eat”. These well-known words, widely used by nutritionists, date back to Ludwig Feuerbach, a German philosopher of XIX century that focused on the needs of the human body to be properly fed, in contrast with the dominant way of thinking of his age that gave priority to feed the souls. May […]

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