Respiratory problems, such as irregular breathing and apnea during resting and/or sleeping, are a common feature in patients with Rett syndrome (RTT). Three studies here outlined describe three different approaches to these problems and present encouraging results. The first article describes the results obtained using a serotonin receptor agonist, whose commercial name is Sarizotan, in […]
Author Archives: Luca Maggioni
38 posts published by Luca Maggioni
Impairment of the macroautophagy: a possible hallmark of the Rett syndrome
The Rett syndrome (RTT) is a neurodevelopmental disorder that affects 1 out of 10,000 girls. They present a neurodevelopment disruption affecting language, cognition and motor function. The RTT is caused, in the 90 – 95% of the cases, by mutations of MECP2, a gene that controls the transcription of other genes. A team of scientists […]
Rett syndrome: an over-50-years journey
In 1966, an Austrian neurologist named Andreas Rett first described more than 20 young female patients which shared similar characteristics, starting from the observation of identical stereotypic hand movements. In 1983, the Swedish pediatrician Bengt Hagberg gave for the first time the name of Rett syndrome (RTT) to the symptoms he detected in a group […]
A gene therapy approach for the Rett Syndrome
The gene therapy is likely to become an important tool in the fight against pediatric rare diseases, especially those derived by the alteration of one single gene. This is the case of the Rett Syndrome (RTT), caused by the loss of function of MECP2, a gene involved in the control of the transcription of different […]
STXBP1 protein as a therapeutic target for Epileptic Encephalopathy
The epileptic encephalopathies (EEs) are characterized by frequent seizures and cognitive and behavioral impairment. The presence of the mental handicap is a signal that the EEs origin during the neuronal development, so that, even if the seizure can be controlled by using available anti-epileptic drugs, the cognitive impairment cannot be stopped with the current treatments. […]
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