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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Neuropaediatric diseases and synapsis
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 […]
2nd Conference on Neurotransmitter Diseases
Next 25th March 2017, “DeNeu“, the Spanish association of neurotransmitter defects, organizes a meeting in Barcelona (see the program here) that will bring together families, medical doctors and researchers. Neurotransmitter disorders are rare diseases that affect brain functioning due to alterations in molecules such as dopamine, serotonin, GABA, glycine, glutamate, serine and others. Neurological symptoms due to these defects are diverse […]
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 […]
AADC deficiency treatment guidelines
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and key clinical symptoms are hypotonia, movement disorders (oculogyric crisis, dystonia, and hypokinesia), developmental delay, and autonomic symptoms. In this consensus guideline, representatives of […]
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