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Stiff Person Syndrome
Loss of Function

Stiff Person Syndrome

  • Genotype

    GAD65 Knockout

  • Mechanism

    Loss of Function

  • Phenotype

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

  • Biomarker

    GABA, BDNF, NfL, S100β

  • Gene Expression Markers

    gad2, grin1, slc6a1, TNF-α, nrf2

  • Physiology Changes

    Muscle spasms, Posture, Loss of inhibitory control

  • Histology Grading Endpoint

    Neuronal shrinkage, Pyknotic nuclei, Reduced inhibitory synapses, Astrocyte hypertrophy, Neuromuscular Junction (NMJ) Changes

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