Evaluation of current pharmacological treatment options in the management of Rett syndrome: from the present to future therapeutic alternatives.

CA Chapleau, J Lane, L Pozzo-Miller… - Current clinical …, 2013 - ingentaconnect.com
CA Chapleau, J Lane, L Pozzo-Miller, AK Percy
Current clinical pharmacology, 2013ingentaconnect.com
Neurodevelopmental disorders are a large family of conditions of genetic or environmental
origin that are characterized by deficiencies in cognitive and behavioral functions. The
therapeutic management of individuals with these disorders is typically complex and is
limited to the treatment of specific symptoms that characterize each disorder. The
neurodevelopmental disorder Rett syndrome (RTT) is the leading cause of severe
intellectual disability in females. Mutations in the gene encoding the transcriptional regulator …
Neurodevelopmental disorders are a large family of conditions of genetic or environmental origin that are characterized by deficiencies in cognitive and behavioral functions. The therapeutic management of individuals with these disorders is typically complex and is limited to the treatment of specific symptoms that characterize each disorder. The neurodevelopmental disorder Rett syndrome (RTT) is the leading cause of severe intellectual disability in females. Mutations in the gene encoding the transcriptional regulator methyl-CpG-binding protein 2 (MECP2), located on the X chromosome, have been confirmed in more than 95% of individuals meeting diagnostic criteria for classical RTT. RTT is characterized by an uneventful early infancy followed by stagnation and regression of growth, motor, language, and social skills later in development. This review will discuss the genetics, pathology, and symptoms that distinguish RTT from other neurodevelopmental disorders associated with intellectual disability. Because great progress has been made in the basic and clinical science of RTT, the goal of this review is to provide a thorough assessment of current pharmacotherapeutic options to treat the symptoms associated with this disorder. Furthermore, we will highlight recent discoveries made with novel pharmacological interventions in experimental preclinical phases, and which have reversed pathological phenotypes in mouse and cell culture models of RTT and may result in clinical trials.
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