The relationship of Rett syndrome and MECP2 disorders to autism

JL Neul - Dialogues in clinical neuroscience, 2012 - Taylor & Francis
Dialogues in clinical neuroscience, 2012Taylor & Francis
Rett syndrome (RTT, MIM# 312750) is a neurodevelopmental disorder that is classified as
an autism spectrum disorder. Clinically, RTT is characterized by psychomotor regression
with loss of volitional hand use and spoken language, the development of repetitive hand
stereotypies, and gait impairment. The majority of people with RTT have mutations in Methyl-
CpG-binding Protein 2 (MECP2), a transcriptional regulator. Interestingly, alterations in the
function of the protein product produced by MECP2, MeCP2, have been identified in a …
Rett syndrome (RTT, MIM#312750) is a neurodevelopmental disorder that is classified as an autism spectrum disorder. Clinically, RTT is characterized by psychomotor regression with loss of volitional hand use and spoken language, the development of repetitive hand stereotypies, and gait impairment. The majority of people with RTT have mutations in Methyl-CpG-binding Protein 2 (MECP2), a transcriptional regulator. Interestingly, alterations in the function of the protein product produced by MECP2, MeCP2, have been identified in a number of other clinical conditions. The many clinical features found in RTT and the various clinical problems that result from alteration in MeCP2 function have led to the belief that understanding RTT will provide insight into a number of other neurological disorders. Excitingly, RTT is reversible in a mouse model, providing inspiration and hope that such a goal may be achieved for RTT and potentially for many neurodevelopmental disorders.
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