62 posts found

Gut microbes induce serotonin production

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We know, thanks to years of investigation, that our intestine is populated by 1-2 kilograms of microorganisms, almost the equivalent of an average human brain. We also know that this living and transforming universe is critical for digestion of food, regulation of immune system, response to drugs and susceptibility to disease. Recently, amazing data indicate […]

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Sleep traps memory. The role of dopamine

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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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A mouse model for type B tyrosine hydroxilase deficiency

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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 […]

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Mitochondrial disorders: impaired neurotransmission and seizures

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Seizure are frequent symptoms of inborn errors of metabolism. In particular, 26–60% of all mitochondrial disorders occur with epilepsy, and 169 genetic mutations affected mitochondrial function have been associated to seizures. Dr. Zsurka and Dr. S Kunz from Bonn University, Germany, proposed an accurate review, recently published in the journal Lancet Neurology, of the relationship […]

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

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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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