Translating molecular advances in fragile X syndrome into therapy: a review

J Clin Psychiatry. 2014 Apr;75(4):e294-307. doi: 10.4088/JCP.13r08714.

Abstract

Fragile X syndrome is an inherited disease with cognitive, behavioral, and neurologic manifestations, resulting from a single genetic mutation. A variety of treatments that target individual symptoms of fragile X syndrome are currently utilized with limited efficacy. Research in animal models has resulted in the development of potential novel pharmacologic treatments that target the underlying molecular defect in fragile X syndrome, rather than the resultant symptoms. This review describes recent advances in our understanding of the molecular basis of fragile X syndrome and summarizes the ongoing clinical research programs.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Biomedical Research
  • Fragile X Mental Retardation Protein / genetics
  • Fragile X Syndrome / drug therapy
  • Fragile X Syndrome / etiology*
  • Fragile X Syndrome / genetics
  • Humans
  • Mice
  • Mice, Knockout / genetics
  • Receptor, Metabotropic Glutamate 5 / drug effects
  • Receptor, Metabotropic Glutamate 5 / genetics
  • Receptor, Metabotropic Glutamate 5 / metabolism
  • Receptors, GABA / drug effects
  • Receptors, GABA / metabolism

Substances

  • Fmr1 protein, mouse
  • Receptor, Metabotropic Glutamate 5
  • Receptors, GABA
  • Fragile X Mental Retardation Protein