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Loss of Function

Progressive Supranuclear Palsy

  • Genotype

    MAPT mutations

  • Mechanism

    Toxic gain function

  • Phenotype

    Hypoactivity, Motor coordination, Oculomotor dysfunction, Startle response, Cognitive and memory deficits

  • Biomarker

    Nfl,GFAP, Total Tau, Phosphorylated Tau, Neurogranin

  • Gene Expression Markers

    SOD1, BAX, BCL2, PSD95, MAP2

  • Physiology Changes

    Bradykinesia, Postural disability, Impaired reflexes

  • Histology Grading Endpoint

    Neurofibrillary tangles, Midbrain neuronal loss, Axonal degeneration

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