期刊
TRENDS IN MOLECULAR MEDICINE
卷 16, 期 11, 页码 516-527出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.molmed.2010.08.005
关键词
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资金
- FRAXA Research Foundation
- ZonMw [912-07-022]
- National Institutes of Health (NICHD) [R01 HD38038]
Fragile X syndrome (FXS) is caused by a lack of the fragile X mental retardation protein (FMRP); FMRP deficiency in neurons of patients with FXS causes intellectual disability (IQ<70) and several behavioural problems, including hyperactivity and autistic-like features. In the brain, no gross morphological malformations have been found, although subtle spine abnormalities have been reported. FXS has been linked to altered group I metabotropic glutamate receptor (mGluR)-dependent and independent forms of synaptic plasticity. Here, we discuss potential targeted therapeutic strategies developed to specifically correct disturbances in the excitatory mGluR and the inhibitory gamma-aminobutyric (GABA) receptor pathways that have been tested in animal models and/or in clinical trials with patients with FXS.
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