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Metachromatic leukodystrophy
Arsa KO- Loss of Function

Metachromatic leukodystrophy

  • Genotype

    Arsa KO

  • Mechanism

    Loss of Function

  • Phenotype

    Locomotor activity, Muscle weakness, Fatigue,  Tremors, Motor coordination, Paralysis, Exploratory activity

  • Biomarker

    Sulfatides, NfL, MBP, GFAP

  • Gene Expression Markers

    galc, ugt8, ARSA, mbp, plp1, mag, lamp1, cathepsins

  • Physiology Changes

    Posture, Reflex responses 

  • Histology Grading Endpoint

    Demyelination, Presence of metachromatic granules, Vacuolation, Axonal degeneration, Peripheral nerve enlargement

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