2 posts found

Impairment of the macroautophagy: a possible hallmark of the Rett syndrome

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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 […]

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Rett syndrome: an over-50-years journey

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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 […]

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