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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Posts with tag 'neurotransmitters'
Rett syndrome: loss of balance between excitation and inhibition
Rett syndrome (RTT) is a rare neurodevelopmental disease. Mutations in MECP2 (located on the X chromosome) are the most common cause. However, mutations in other genes such as CDKL5 and FOXG1 have been reported to produce a Rett-like phenotype. How these different genetic defects determine similar clinical features has yet to be elucidated. Italian researchers […]
Gut microbes induce serotonin production
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 […]
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 […]
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 […]
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