Fragile X Syndrome and Targeted Treatment Trials

Hagerman, Randi; Lauterborn, Julie; Au, Jacky; Berry-Kravis, Elizabeth

doi:10.1007/978-3-642-21649-7_17

Back to Previous Page

- Add this to...
- Twitter
- Facebook
- Google Bookmarks
- LinkedIn

Fragile X Syndrome and Targeted Treatment Trials

Published Date:

2012

Publisher's site:

http://dx.doi.org/10.1007/978-3-642-21649-7_17 New Site Icon

Source:

Results Probl Cell Differ. 2012; 54:297-335.

[PDF-152.73 KB]

Details:

Personal Authors:

Hagerman, Randi ; Lauterborn, Julie ; Au, Jacky ; Berry-Kravis, Elizabeth ;

Keywords:

[+]

Pubmed ID:

22009360

Pubmed Central ID:

PMC4114775

Description:

Work in recent years has revealed an abundance of possible new treatment targets for fragile X syndrome (FXS). The use of animal models, including the fragile X knockout mouse which manifests a phenotype very similar to FXS in humans, has resulted in great strides in this direction of research. The lack of Fragile X Mental Retardation Protein (FMRP) in FXS causes dysregulation and usually overexpression of a number of its target genes, which can cause imbalances of neurotransmission and deficits in synaptic plasticity. The use of metabotropic glutamate receptor (mGluR) blockers and gamma amino-butyric acid (GABA) agonists have been shown to be efficacious in reversing cellular and behavioral phenotypes, and restoring proper brain connectivity in the mouse and fly models. Proposed new pharmacological treatments and educational interventions are discussed in this chapter. In combination, these various targeted treatments show promising preliminary results in mitigating or even reversing the neurobiological abnormalities caused by loss of FMRP, with possible translational applications to other neurodevelopmental disorders including autism.

Document Type:

Journal Article

Collection(s):

CDC Public Access

Funding:

90DD05969/DD/NCBDD CDC HHS/United States
AG032115/AG/NIA NIH HHS/United States
AG032119/AG/NIA NIH HHS/United States
DA024854/DA/NIDA NIH HHS/United States
DE019583/DE/NIDCR NIH HHS/United States
HD02274/HD/NICHD NIH HHS/United States
HD036071/HD/NICHD NIH HHS/United States
MH082042/MH/NIMH NIH HHS/United States
P30 HD002274/HD/NICHD NIH HHS/United States
R01 HD036071/HD/NICHD NIH HHS/United States
R01 MH082042/MH/NIMH NIH HHS/United States
RL1 AG032115/AG/NIA NIH HHS/United States
RL1 AG032119/AG/NIA NIH HHS/United States
TL1 DA024854/DA/NIDA NIH HHS/United States
UL1 DE019583/DE/NIDCR NIH HHS/United States
UL1 RR024146/RR/NCRR NIH HHS/United States
UL1RR024146/RR/NCRR NIH HHS/United States

Supporting Files:

nihms609194.nxml

text/plain

No Related Documents.

You May Also Like:

Advances in the Understanding of the Gabaergic Neurobiology of FMR1 Expanded Alleles Leading to Targeted Treatments for Fragile X Spectrum Disorder

Personal Author:

Lozano, Reymundo; Martinez-Cerdeno, Veronica; Hagerman, Randi J.;

Published:

2015

Source:

Curr Pharm Des. 21(34):4972-4979.

Description:

Fragile X spectrum disorder (FXSD) includes: fragile X syndrome (FXS), fragile X-associated tremor ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI), as well as other medical, psychiatric and neurobehavioral probl...

File Type:

[PDF - 88.54 KB]
Electrocortical changes associated with minocycline treatment in fragile X syndrome

Personal Author:

Andrea, Schneider; Jacena, Leigh Mary; Patrick, Adams; Rawi, Nanakul; Tasleem, Chechi; John, Olichney; Randi, Hagerman; David, Hessl;

Published:

Aug 27 2013

Source:

J Psychopharmacol. 27(10):956-963.

Description:

Minocycline normalizes synaptic connections and behavior in the knockout mouse model of fragile X syndrome (FXS). Human-targeted treatment trials with minocycline have shown benefits in behavioral measures and parent reports. Event-related potentials...

File Type:

[PDF - 905.78 KB]
Fragile X Syndrome

Personal Author:

Lyons, Justine I.; Kerr, Gregory R.; Mueller, Patricia W.;

Published:

Jul 07 2015

Source:

J Mol Diagn. 17(5):463-471.

Description:

Fragile X is the most common inherited cause of mental retardation with a prevalence of 1 in 4000 for males and 1 in 5000 to 8000 for females. The American College of Medical Genetics and Genomics has recommended diagnostic testing for fragile X in s...

File Type:

[PDF - 801.04 KB]
Public Health Literature Review of Fragile X Syndrome

Personal Author:

Raspa, Melissa; Wheeler, Anne C.; Riley, Catharine;

Published:

Jun 2017

Source:

Pediatrics. 139(Suppl 3):S153-S171.

Description:

OBJECTIVES : The purpose of this systematic literature review is to describe what is known about fragile X syndrome (FXS) and to identify research gaps. The results can be used to help inform future public health research and provide pediatricians wi...

File Type:

[PDF - 592.08 KB]
Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems

Personal Author:

Hagerman, Randi J; Hall, Deborah A; Coffey, Sarah; Leehey, Maureen; Bourgeois, James; Gould, John; Zhang, Lin; Seritan, Andreea; Berry-Kravis, Elizabeth; Olichney, John; Miller, Joshua W; Fong, Amy L; Carpenter, Randall; Bodine, Cathy; Gane, Louise W; Rainin, Edgar; Hagerman, Hillary; Hagerman, Paul J;

Published:

2008

Source:

Clin Interv Aging. 2008; 3(2):251-262.

Description:

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurological disorder that affects older adult carriers, predominantly males, of premutation alleles (55 to 200 CGG repeats) of the fragile X (FMR1) gene. Principal features of FXTA...

File Type:

[PDF - 111.80 KB]