New review in BRAIN

December 15, 2018

With Walter Kaufmann and Mriganka Sur, we wrote a new review on synaptic, circuit and clinical manifestation of Rett syndrome, and emphasized the synaptic plasticity abnormalities in RTT to its diagnosis and treatment. Below is the abstract:

Towards a better diagnosis and treatment of Rett syndrome: A model synaptic disorder

Banerjee et al. 2019

Abstract:

With the recent 50th anniversary of the first publication on Rett syndrome (RTT), and the almost 20 years since the first report on the link between RTT and MECP2 mutations, it is important to reflect on the tremendous advances in our understanding and their implications for the diagnosis and treatment of this neurodevelopmental disorder. RTT features an interesting challenge for biologists and clinicians, as the disorder lies at the intersection of molecular mechanisms of epigenetic regulation and neurophysiological alterations in synapses and circuits that together contribute to severe pathophysiological endophenotypes. Genetic, clinical, and neurobiological evidences support the notion that RTT is primarily a synaptic disorder, and a disease model for both intellectual disability and autism spectrum disorder. This review examines major developments in both recent neurobiological and preclinical findings of RTT, and to what extent they are beginning to impact our understanding and management of the disorder. It also discusses potential applications of knowledge on synaptic plasticity abnormalities in RTT to its diagnosis and treatment.