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Neurotherapeutics
Published in: Neurotherapeutics 3/2015

01-07-2015 | Review

Tuberous Sclerosis: A New Frontier in Targeted Treatment of Autism

Authors: Peter E. Davis, Jurriaan M. Peters, Darcy A. Krueger, Mustafa Sahin

Published in: Neurotherapeutics | Issue 3/2015

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Abstract

Tuberous sclerosis complex (TSC) is a genetic disorder with a high prevalence of autism spectrum disorder (ASD). Tremendous progress in understanding the pathogenesis of TSC has been made in recent years, along with initial trials of medical treatment aimed specifically at the underlying mechanism of the disorder. At the cellular level, loss of TSC1 or TSC2 results in upregulation of the mechanistic target of rapamycin (mTOR) pathway. At the circuitry level, TSC and mTOR play crucial roles in axonal, dendritic, and synaptic development and function. In this review, we discuss the molecular mechanism underlying TSC, and how this disease results in aberrant neural connectivity at multiple levels in the central nervous system, leading to ASD symptoms. We then review recent advances in mechanism-based treatments of TSC, and the promise that these treatments provide for future mechanism-based treatment of ASD. Because of these recent advances, TSC represents an ideal model for how to make progress in understanding and treating the mechanisms that underlie ASD in general.
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Metadata
Title
Tuberous Sclerosis: A New Frontier in Targeted Treatment of Autism
Authors
Peter E. Davis
Jurriaan M. Peters
Darcy A. Krueger
Mustafa Sahin
Publication date
01-07-2015
Publisher
Springer US
Published in
Neurotherapeutics / Issue 3/2015
Print ISSN: 1933-7213
Electronic ISSN: 1878-7479
DOI
https://doi.org/10.1007/s13311-015-0359-5

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