Leukodystrophy (LEP) is an autosomal recessive disorder affecting the white matter of the central nervous system. The symptoms show postnatal and include apathy, dysphoric vocalization, hypermetric ataxia, intension tremor, head tilts, circling, proprioceptive deficits, seizures, ventral strabismus and weakness. The affected puppies often have to be euthanised due to severe symptoms and the risk of a sudden death.

Inheritance: autosomal recessive - read more

Mutation: TSEN54 gene

Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.

Disease control: read more

DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.