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Fragile X Syndrome
Loss of Function

Fragile X Syndrome

  • Genotype

    Fmr1 KO

  • Mechanism

    Loss of Function

  • Phenotype

    Cognitive Impairment, Hyperactivity, Social isolation, Repetitive behavior, Anxiety, Seizures, Depression, Compulsivity, Hypersensitivity to touch, sound, light and heat

  • Biomarker

    BDNF, GABA, NfL, MMP 9, APP

  • Gene Expression Markers

    GRM5,HOMER1,ARC DLG4 , GAD1, GABRA1,SLC17A7, EIF4E,MTOR, IL6, TNF

  • Physiology Changes

    Jaw Dysmorphism, Hypotonia, EEG - High frequency activity, Spike and spike and wave discharges, Disrupted gamma oscillations, Reduced slow-wave sleep quality

  • Histology Grading Endpoint

    Dendritic spine abnormalities, Disorganized postsynaptic density, Astrocyte activation, Defects in myelination, Altered white matter integrity

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