Neuronal Ceroid Lipofuscinosis 10, NCL 10


A lysosome is a structure within the cell that digests and removes waste. When the lysosome cannot recycle waste properly, the waste accumulates and causes the cell to die. This form of lysosomal storage disease causes juvenile to adult onset neurologic signs.

  • Signs and symptoms

    Common symptoms reflect central nervous system malfunction and include partial or total vision loss, behavior changes, abnormal gait, and seizures. Symptoms usually progress slowly over time.

    Bulldogs homozygous for this mutation typically present between 1 and 3 years of age and the symptoms progress slowly over 2 to 4 years.

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  • Diagnosis

    NCL is definitively diagnosed through genetic testing or examination of central nervous system (CNS) tissues after the affected dog is deceased. Clinical signs of this disease may mimic many other CNS diseases, so examination by a veterinarian or veterinary neurologist is required. Advanced imaging (CT or MRI scan) and/or spinal taps may be performed to rule out other diseases.

  • Treatment

    Currently, there is no treatment for NCL. While gene therapy trials in mouse models have proven promising, there is much more research required before it can be used in veterinary hospitals.

  • What to do if your dog is at risk


    • Keeping your affected dog comfortable at home is the best therapy you can provide.
    • Slings can be used to assist with their mobility.
    • Blind dogs benefit from leaving your furniture in the same place and being put on leashes in unfamiliar territory.
    • Please give your dog any medication as prescribed by your veterinarian.

  • Genetic Information

    A mutation in the CTSD gene has been identified in American Bulldogs with NCL. CTSD encodes the protein Cathepsin D, a lysosomal enzyme that helps to break down proteins. Mutations in CTSD have been shown to cause NCL in a variety of species including humans, cows, and sheep. The mutation characterized in American Bulldogs leads to a significant but incomplete reduction in enzyme activity, which likely explains the slow progression of the disease compared to other forms of NCL.

    This disease is inherited in an autosomal recessive manner, meaning that affected dogs must have two copies of the mutation to show clinical signs.

    Gene names:

    CTSD (Exon 5) ‐ chr

    Inheritance type:


  • Breeds affected

    This health condition affects the following breeds

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