Emotion Potentiated Startle in Fragile X Syndrome

Ballinger, Elizabeth; Cordeiro, Lisa; Chavez, Alyssa; Hagerman, Randi J; Hessl, David

doi:10.1007/s10803-014-2125-7

Cited by 6 publications

(3 citation statements)

References 61 publications

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“…In men with the FMR1 premutation, attenuated amygdalar activation has also been seen during an emotion-matching task, as well as impaired startle potentiation while viewing fear faces (Hessl et al, 2011). Consistent with these neuroimaging studies, emotion-potentiated startle, a probe of amygdala activation, was found to be reduced in children and adolescents with FXS compared to a typically developing control group (Ballinger et al, 2014).…”

Section: Discussionsupporting

confidence: 59%

Correction of amygdalar dysfunction in a rat model of fragile X syndrome

et al. 2021

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Section: Discussionsupporting

confidence: 59%

Correction of amygdalar dysfunction in a rat model of fragile X syndrome

et al. 2021

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“…FMRP is an RNA binding protein that functions as a translational repressor at synapses (Antar and Bassell, 2003 ; Bagni and Oostra, 2013 ; Darnell and Klann, 2013 ; Sidorov et al, 2013 ). FMRP is important for learning and memory, and its absence is associated with the characteristic features of FXS, including intellectual disability, cognitive impairments and behavioral problems, autism spectrum disorders (ASD), Attention Deficit Hyperactivity Disorder (ADHD), seizure, in addition to hyper-responsiveness to sensory stimuli, hyperactivity, impulsive behavior, gaze aversion and shyness (Hull and Hagerman, 1993 ; Hagerman, 2002 ; Smith et al, 2012 ; Schneider et al, 2013 ; Ballinger et al, 2014 ; Machalicek et al, 2014 ; Maurin et al, 2014 ; Thurman et al, 2014 ).…”

Section: Introductionmentioning

confidence: 99%

Clinical and molecular implications of mosaicism in FMR1 full mutations

et al. 2014

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Expansions of more than 200 CGG repeats (full mutation) in the FMR1 gene give rise to fragile X syndrome (FXS) through a process that generally involves hypermethylation of the FMR1 promoter region and gene silencing, resulting in absence of expression of the encoded protein, FMRP. However, mosaicism with alleles differing in size and extent of methylation often exist within or between tissues of individuals with FXS. In the current work, CGG-repeat lengths and methylation status were assessed for eighteen individuals with FXS, including 13 mosaics, for which peripheral blood cells (PBMCs) and primary fibroblast cells were available. Our results show that for both PBMCs and fibroblasts, FMR1 mRNA and FMRP expression are directly correlated with the percent of methylation of the FMR1 allele. In addition, Full Scale IQ scores were inversely correlated with the percent methylation and positively correlated with higher FMRP expression. These latter results point toward a positive impact on cognition for full mutation mosaics with lower methylation compared to individuals with fully methylated, full mutation alleles. However, we did not observe a significant reduction in the number of seizures, nor in the severity of hyperactivity or autism spectrum disorder, among individuals with mosaic genotypes in the presentation of FXS. These observations suggest that low, but non-zero expression of FMRP may be sufficient to positively impact cognitive function in individuals with FXS, with methylation mosaicism (lowered methylation fraction) contributing to a more positive clinical outcome.

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“…Anxiety disorders are common in individuals with FXS, with 70 to 80% having some form of anxiety [107]. Selective serotonin reuptake inhibitors (SSRIs), like sertraline are very effective for this purpose [65,99].…”

Section: Anxiety Symptomsmentioning

confidence: 99%

Fragile X Syndrome: From Molecular Aspect to Clinical Treatment

Protić

Aishworiya

Salcedo-Arellano

et al. 2022

IJMS

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Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the full mutation as well as highly localized methylation of the fragile X mental retardation 1 (FMR1) gene on the long arm of the X chromosome. Children with FXS are commonly co-diagnosed with Autism Spectrum Disorder, attention and learning problems, anxiety, aggressive behavior and sleep disorder, and early interventions have improved many behavior symptoms associated with FXS. In this review, we performed a literature search of original and review articles data of clinical trials and book chapters using MEDLINE (1990–2021) and ClinicalTrials.gov. While we have reviewed the biological importance of the fragile X mental retardation protein (FMRP), the FXS phenotype, and current diagnosis techniques, the emphasis of this review is on clinical interventions. Early non-pharmacological interventions in combination with pharmacotherapy and targeted treatments aiming to reverse dysregulated brain pathways are the mainstream of treatment in FXS. Overall, early diagnosis and interventions are fundamental to achieve optimal clinical outcomes in FXS.

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Emotion Potentiated Startle in Fragile X Syndrome

Cited by 6 publications

References 61 publications

Correction of amygdalar dysfunction in a rat model of fragile X syndrome

Correction of amygdalar dysfunction in a rat model of fragile X syndrome

Clinical and molecular implications of mosaicism in FMR1 full mutations

Fragile X Syndrome: From Molecular Aspect to Clinical Treatment

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