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 […]
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iNTD Newsletter – February 2017
1) AADC Deficiency Guidelines now online! The AADC deficiency guidelines for the diagnoses, treatment and other special situations are now available online (https://www.ncbi.nlm.nih.gov/pubmed/28100251). We thank all participants and authors for this wonderful collaboration! 2) BH4 Deficiency Guidelines started The next guidelines developed by members of the iNTD network (http://www.intd-online.org) will focus on BH4 deficiencies […]
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 […]
Microtubule transport system: a highway between neuronal cell body and synapses
Neuronal cells have developed a characteristic shape, which causes that the distance between the cell body and the synapses is often very long. Therefore, they have a complex and efficient system to transport many proteins from the center to the periphery, and vice versa. The process of transport of proteins from the cell body to […]
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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