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 […]
Author Archives: Luca Maggioni
38 posts published by Luca Maggioni
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 […]
The lysosome signalization function: new mechanisms of neurological diseases
The role and the fame of the lysosomes in cell metabolism are mainly connected to their well-known activity of “garbage collectors”. They are plenty of hydrolytic enzymes that degrade different types of useless macromolecules, thus generating smaller, simpler basic molecules that can enter once again in the flow of the biochemical pathways of the cells. […]
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