Rett syndrome: Neurologic and metabolic aspects

Rett syndrome (RTT) is a neurodevelopmental disorder that occurs almost exclusively in females. It was described in 1954 by Andreas Rett, an Australian neuropediatrician. After a period of apparently normal development, affected patients experience loss of speech and purposeful handuse, stereotypic hand movements, and gait abnormalities. Additional findings include deceleration of head growth, autistic features, breathing abnormalities, and seizures.
In the majority of patients, Rett syndrome is caused by mutations in the MECP2 gene, which maps to Xq28 and encodes methyl-CpG binding protein 2. How MECP2 mutations lead to Rett syndrome is not yet established. The diagnosis of classic Rett syndrome rests on clinical diagnostic criteria.
This thesis comprises a number of studies, aimed to improve the knowledge of neurologic and metabolic aspects of Rett syndrome, and to summarize a number of clinical trials which have been conducted.