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• W2078509645 abstract "i t T a h D i a o i p The fragile X mental retardation 1 protein (FMRP) is a master protein regulating the transport and subsequent translation of hundreds of messenger ribonucleic acids (mRNAs) into proteins mportant for synaptic plasticity that impacts intelligence and emotion 1). FMRP is missing in males with fragile X syndrome (FXS) and someimes deficient in carriers and females with FXS. Through evolution the GG repeat at the 5’ end of FMR1 at Xq27.3 has expanded, leading to ncreased production of FMRP, which has enhanced intelligence and motional functioning in the evolution of humans. The study of fragile X mutations including both the full mutation more than 200 CGG repeats) that causes FXS and the premutation 55–200 CGG repeats), the carrier state, has led to a greater undertanding of the causes of autism, autism spectrum disorders (ASD), earning disabilities, anxiety, depression, attention-deficit hyperacivity disorder, and intellectual impairment. When FMRP is deficient, here is a dramatic dysregulation of a number of other pathways ncluding those of group 1 metabotropic glutamate receptors mGluR1 and 5), -aminobutyric acid A and B pathways, phosphaidylinositol 3-kinase, and mammalian target of rapamycin pathays that negatively impact social and intellectual functioning (1). In FXS there is dramatic up-regulation of protein production mportant for synaptic function because FMRP usually inhibits ranslation of these proteins. There is a close association between XS and autism or ASD because approximately a third of all of the roteins known to be mutated in autism including neuroligins, eurorexins, SHANK, phosphatase and tensin homolog deleted rom chromosome 10, and postsynaptic density-95 are regulated y FMRP and dysregulated in FXS (1). Autism occurs in approxiately 30% of those with FXS and PDDNOS occurs in an additional 0% (2), whereas anxiety disorders are seen in up to 80%. It has been nown for many years that intelligence quotient declines in FXS, nd this decline begins in childhood and increases significantly in dolescence, although those who are mosaic with greater than 50% f normal levels of FMRP can maintain a higher intelligence quoient than those with lower levels of FMRP (3). The study by Bray et al. (4) reported in this issue is the first to emonstrate longitudinal changes in the adolescent brain of those ith FXS. They studied 59 individuals with FXS and 83 controls aged –22 years, and a subset were studied longitudinally up to 5 years. hey found consistent differences from controls in the large caudate olumes, which Hazlett et al. (5) had demonstrated in toddlers with XS. They also found aberrant maturation of the prefrontal cortex, and easures of verbal fluency and visual spatial relations were also aberant in their dramatically lowered trajectory over this period in FXS ompared with controls. Both gray matter and white matter volume rajectories were similar between FXS and controls, but the frontal egions including the orbital frontal gyrus and the superior/middle" @default.
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• W2078509645 date "2011-11-01" @default.
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• W2078509645 title "The Fragile X-associated Disorders: Time to Order Fragile X DNA Testing" @default.
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• W2078509645 doi "https://doi.org/10.1016/j.biopsych.2011.09.009" @default.
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