Ataxias are an inherited group of disorders of balance, coordination and tremors. They are often caused by a dysfunction of the cerebellum and thereby gaining the name cerebellar ataxia. A form of an inherited cerebellar ataxia in a family of a Belgian Shepherd dogs has been named central nervous system atrophy and cerebellar ataxia (CACA). Affected dogs show signs of uncoordinated movements, intention tremor, general elevated muscle tone and reduced swallowing reflex. First obvious signs are evident at 12-14 days of age and progress thereafter. Affected puppies gain less bodyweight in comparison to the unaffected ones. Severity of clinical signs vary, some puppies need to be euthanized due to the severity of the disorder, others stay in a relatively stable condition with noticeable ataxia. Genetic defect causes a complete absence of a protein that is required to transport selenium to the CNS. Total selenium concentration in the blood of affected homozygous puppies drops to 30% in comparison to a healthy wild type.

Inheritance: autosomal recessive - read more

Mutation: SELENOP gene

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

Disease control: read more

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