Cerebellar hypoplasia is an autosomal recessive neurological disorder. It is described by anatomical abnormalities in the brain - smaller or undeveloped cerebellum. The puppies are born clinically normal. First symptoms occur at around 2 weeks of age and include failure of gaining weight, progressive ataxia, trouble to stand and walk in a straight line, no spontaneous or positional nystagmus and congenital brain defect. Affected individuals usually have to be euthanised at around 4 weeks of age due to severe progressive symptoms.

Inheritance: autosomal recessive - read more

Mutation: RELN 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.