With only 100,000 neurons, the fruit fly Drosophila Melanogaster confirms that sleep is not only good for skin and mood, but also for memory. American researchers at Florida Campus of The Scripps Research Institute published in the journal Cell that remembering and forgetting are two processes closely related, dependent on the activation or inactivation of […]
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Neurotransmitters
A mouse model for type B tyrosine hydroxilase deficiency
Tyrosine Hydroxylase Deficiency (THD) is an inborn error of dopamine synthesis. Around 70 cases of THD have been identified so far, with manifestations ranging from mild movement disorder to encephalopathy with parkinsonism. Based on the clinical signs observed, two main forms have been described. Type A has a more attenuated phenotype and it is normally […]
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.
Neurotransmitter focused course
Course of the Recordati Rare Diseases Foundation This course is aimed at clinicians with a basic knowledge of inborn errors of neurotransmitter, pterin and folate metabolisms who are working a metabolic or child neurology clinic. Both adult and childhood disease will be covered so it is suitable for practitioners in both areas. This course is […]
B-Debate “Connecting the Growing Brain”
“Connecting the growing brain” is a workshop that belong to the B-Debate series. It will take place in November 26 and 27 at the Science Museum of Barcelona. Clinicians and researchers from different countries in Europe and from the USA will meet to discuss about mechanisms of neurotransmission and synaptic communication in neuropaediatric disorders. We […]
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