PITMR1 gene related epilepsy or juvenile brain disorder is a rare genetic condition that affects humans and animals, including dogs. The neurological disease is a consequence of excessive activity of brain neurons. Clinical symptoms of affected puppies typically begin to appear at 6 to 12 weeks of age, and progress rapidly to status epilepticus and death or euthanasia. Juvenile brain disorder includes clinical signs of recurrent seizures, behavioural changes as well as problems with coordination. The brain shows severe degeneration and necrosis of neurons, particularly in the grey matter. There is an abnormal buildup of mitochondria inside the neurons, which are the organelles responsible for energy production. The accumulation of amyloid-β (Aβ), a protein that can be associated with neurodegenerative diseases, is also observed.

Inheritance: autosomal recessive - read more

Mutation: PITMR1 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.