Italy

The congenital variant of Rett syndrome: clinical description and the autonomic nervous system

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Reference: Abstract: Introduction.ﾠRett syndrome (RTT) is a neurodevelopmental disorder, which is characterized by congenital variant early psychomotor retardation, hypotonia, abnormal EEG, typical absence of initial asymptomatic period.ﾠMaterials and methods.ﾠSample of 7 children with congenital variant of RTT afferite to “regional reference center of Rett Syndrome” Versilia Hospital and the University of Ferrara from 2006 to … Read more

CHERISH (Improving diagnoses of mental retardation in children in central eastern Europe and central Asia through genetic characterisation and bioinformatics / statistics)

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Reference: 223692 Abstract: Mental retardation (MR) is a highly heterogeneous disorder and is of genetic origin in about 50% of the cases. Despite recent progress in research the causes and the pathophysiology of MR remains obscure. It is essential to investigate this in order to develop future diagnostic and therapeutic strategies. The overall goal of … Read more

Partial rescue of Rett syndrome by omega-3 polyunsaturated fatty acids (PUFAs) oil

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Reference: Abstract: Evidence of enhanced oxidative stress (O.S.) and lipid peroxidation has been reported in patients with Rett syndrome (RTT), a relatively rare neurodevelopmental disorder progressing in 4-stages, and mainly caused by loss-of-function mutations in the methyl-CpG-binding protein 2. No effective therapy for preventing or arresting the neurologic regression in the disease in its various … Read more

NGF and BDNF: from nerves to adipose tissue, from neurokines to metabokines

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Reference: Abstract: eurotrophins, particularly, NGF and BDNF are now well recognized to mediate a dizzying number of trophobiological effects, ranging from the Rita Levi-Montalciniﾒs neurotrophic through immunotrophic to metabotrophic effects. These are implicated in the pathogenesis of various diseases including neuropsychiatric and cardiometabolic diseases, such as dementia, depression, type 2 diabetes and obesity that may … Read more

EURORETT: European network on Rett syndrome

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Reference: ORPHA258004 Abstract: Rett syndrome (RS) is a neurological disorder primarily affecting girls, with an incidence of about 1/10,000 female births. It is a genetic disease, the second cause of severe mental retardation in women and a leading cause of postnatal neurodevelopmental regression. Rett syndrome is a model for autism-spectrum disorders and it is classified … Read more

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