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X-linked Adrenoleukodystrophy
Loss of Function

X-linked Adrenoleukodystrophy

  • Genotype

    abcd1 

  • Mechanism

    Loss of Function

  • Phenotype

    Hypoactivity, Sensory deficits, Cognitive impairments, Startle response, Fatigue

  • Biomarker

    Cortisol, GFAP, NfL, MBP, ACTH

  • Gene Expression Markers

    ELOVL1,ACOX1, PLP1, SOD1, CASP3

  • Physiology Changes

    Gait abnormalities, Muscle weakness, Spasticity, ROS production, EEG - Sleep Abnormalities

  • Histology Grading Endpoint

    Loss of myelin, Reduced axonal density, Perivascular infiltration of immune cell, Astrogliosis, Degeneration of corticospinal tracts

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