Chapter title |
Fragile X Syndrome and Targeted Treatment Trials
|
---|---|
Chapter number | 17 |
Book title |
Modeling Fragile X Syndrome
|
Published in |
Results and problems in cell differentiation, January 2012
|
DOI | 10.1007/978-3-642-21649-7_17 |
Pubmed ID | |
Book ISBNs |
978-3-64-221648-0, 978-3-64-221649-7
|
Authors |
Randi Hagerman, Julie Lauterborn, Jacky Au, Elizabeth Berry-Kravis, Hagerman, Randi, Lauterborn, Julie, Au, Jacky, Berry-Kravis, Elizabeth |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 2 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 50% |
Practitioners (doctors, other healthcare professionals) | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | 2% |
Spain | 1 | <1% |
Netherlands | 1 | <1% |
Brazil | 1 | <1% |
Unknown | 97 | 95% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 16 | 16% |
Student > Ph. D. Student | 14 | 14% |
Student > Bachelor | 14 | 14% |
Researcher | 12 | 12% |
Other | 6 | 6% |
Other | 18 | 18% |
Unknown | 22 | 22% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 21 | 21% |
Medicine and Dentistry | 16 | 16% |
Neuroscience | 12 | 12% |
Psychology | 11 | 11% |
Biochemistry, Genetics and Molecular Biology | 7 | 7% |
Other | 13 | 13% |
Unknown | 22 | 22% |