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Down Syndrome
Toxic gain function

Down Syndrome

  • Genotype

    DYRK1A

  • Mechanism

    Toxic gain function

  • Phenotype

    Cognitive impairment, Hyperactivity, Anxiety, Social isolation, Sleep disorder, Motor coordination, Compulsive behaviors

  • Biomarker

    Total tau, BDNF, NfL, S100B 

  • Gene Expression Markers

    SOD1, APP, SYN1, PSD95, GAP43, CAT, BCL2

  • Physiology Changes

    Reduced body size and brain volume, Hypotonia, Jaw dysmorphism, EEG - Spike-and-wave discharges, Slowing of EEG rhythms, Reduced REM sleep

  • Histology Grading Endpoint

    Reduced neuronal density, Reduced dendritic spine density, Increased astrocyte activation, Amyloid plaques and Neurofibrillary tangles

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