Neuronal Ceroid Lipofuscinosis 1, NCL 1

Multisystem

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 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.

    Dachshunds with this mutation are reported to show symptoms around nine months of age.

    Uncover health risks with Embark

    Embark Breed + Health Test

    Original price:

    $199

    Sale price:

     $159

    Shop

    Embark for Breeders Dog DNA Test

    $129 - $159

    Shop

  • 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

    Actions

    • 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 PPT1 gene was first identified in Dachshunds with an early onset form of NCL. PPT1 codes for the enzyme palmitoyl protein thioesterase, which plays a role in lysosomal protein degradation; this mutation leads to a nonfunctional enzyme, leading to neurologic signs.

    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:

    PPT1 (Exon 8) ‐ chr15

    Inheritance type:

    recessive

  • Breeds affected

    This health condition affects the following breeds

Learn about your dog’s unique genetic health

Dog owners

Breed identification, health and trait insights, personalized care recommendations, and the world’s first canine relative finder—all in one leading dog DNA test.

Learn about the report for dog owners
Shop the test
Breeding programs

Embark’s test for breeding programs is one comprehensive DNA test designed with your needs in mind.

Learn about the report for breeders
Shop the test