Therapeutic approaches for shankopathies

Dev Neurobiol. 2014 Feb;74(2):123-35. doi: 10.1002/dneu.22084. Epub 2013 Oct 11.


Despite recent advances in understanding the molecular mechanisms of autism spectrum disorders (ASD), the current treatments for these disorders are mostly focused on behavioral and educational approaches. The considerable clinical and molecular heterogeneity of ASD present a significant challenge to the development of an effective treatment targeting underlying molecular defects. Deficiency of SHANK family genes causing ASD represent an exciting opportunity for developing molecular therapies because of strong genetic evidence for SHANK as causative genes in ASD and the availability of a panel of Shank mutant mouse models. In this article, we review the literature suggesting the potential for developing therapies based on molecular characteristics and discuss several exciting themes that are emerging from studying Shank mutant mice at the molecular level and in terms of synaptic function.

Keywords: SHANK family protein; autism spectrum disorders; brain stimulation; mouse model; synapses.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Child Development Disorders, Pervasive / genetics*
  • Child Development Disorders, Pervasive / physiopathology
  • Child Development Disorders, Pervasive / therapy*
  • Humans
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Synaptic Transmission
  • Transcranial Magnetic Stimulation


  • Nerve Tissue Proteins
  • SHANK1 protein, human
  • SHANK2 protein, human
  • SHANK3 protein, human