top of page
Friedreich’s Ataxia
Loss of Function

Friedreich’s Ataxia

  • Genotype

    FXN -/-

  • Mechanism

    Loss of function

  • Phenotype

    Locomotor activity, Fatigue, Motor coordination, Muscle rigidity, Anxiety, Startle response

  • Biomarker

    NfL, BNP, GFAP, Ferritin

  • Gene Expression Markers

    PGC1α,  NRF1,TFAM, SOD2, BAX, CASP3, TNFα

  • Physiology Changes

    Reactive oxygen species, Muscle strength

  • Histology Grading Endpoint

    Neuronal loss, Loss of myelinated fibers, Axonal degeneration, Cardiomyocyte hypertrophy

bottom of page