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Leukodystrophy (Discovered in the Standard Schnauzer)

Leukodystrophy is a rare inherited disorder affecting the white matter of the brain, causing severe and progressive neurologic signs shortly after birth. The associated genetic variant has been identified in the Standard Schnauzer.

Key Signs

Apathy, Dysphoric vocalization, Abnormal eye positioning, Head tilt, Abnormal gait, Circling behaviors, Seizures

Age of Onset

At birth

Present at birth


Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with Leukodystrophy

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about Leukodystrophy

Leukodystrophy is a neurological disorder affecting the white matter of the central nervous system. Histopathologically, these areas can show a severe reduction of myelin formation and diffuse edema without inflammation. Mild hydrocephalus internus may also be found. Affected puppies can show clinical signs shortly after birth or before the age of 4 weeks. Signs often include a lack of interest in their surroundings, dysphoric vocalization, hypermetric ataxia, intention tremors, head tilt, circling, proprioceptive deficits, seizures and ventral strabismus.

There is no curative treatment for the disorder. And, due to its severe and progressive nature, affected puppies are typically humanely euthanized at a young age based on welfare grounds.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disorder is autosomal recessive, meaning two copies of the variant are needed for a dog to be at an elevated risk for being diagnosed with the condition. A carrier dog with one copy of the Leukodystrophy (Discovered in the Standard Schnauzer) variant can be safely bred with a clear dog with no copies of the Leukodystrophy (Discovered in the Standard Schnauzer) variant. About half of the puppies will have one copy (carriers) and half will have no copies of the variant. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disorder signs similar to the ones associated with this Leukodystrophy variant could develop due to a different genetic or clinical cause.

Technical Details

Gene TSEN54
Variant C>T
Chromosome 9
Coordinate 5,015,506

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Störk, T., Nessler, J., Anderegg, L., Hünerfauth, E., Schmutz, I., Jagannathan, V., … Leeb, T. (2019). TSEN54 missense variant in Standard Schnauzers with leukodystrophy. PLoS Genet, 15(10), e1008411. View the article