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Perry syndrome
Loss of Function

Perry syndrome

  • Genotype

    dctn1a

  • Mechanism

    Loss of Function

  • Phenotype

    Locomotor activity, Motor coordination, Muscle rigidity, Depression, Feeding behavior, Sleep, Cognitive dysfunction

  • Biomarker

    NfL, NSE, Total tau, Dopamine, GFAP

  • Gene Expression Markers

    DCTN1, TH, PGC1A, DRD2, BECN1, BAX, TNF-α, NRF2, HSP70

  • Physiology Changes

    Bradykinesia, Irregular breathing pattern, Altered heart rate variability, Reduced dopamine release, Activated microglial and astrocytic responses

  • Histology Grading Endpoint

    Cytoplasmic mislocalization, Swollen axons with accumulated cargo vesicles, Increased astrocytosis, Abnormal mitochondrial morphology, Dopaminergic neuron loss

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