CNS atrophy with cerebellar ataxia / CACA (SELENOP/SEPP1-related) - Belgian Shepherd Dog

What does this test analyse?

This genetic test analyses the SELENOP/SEPP1 deletion c.-6582_*516del in the Belgian Shepherd Dog and Malinois. The disorder is described as CNS atrophy with cerebellar ataxia, CACA, central nervous system atrophy with cerebellar ataxia or sometimes CA4.

What does this mean for the dog?

SELENOP encodes selenoprotein P, a protein important for selenium transport to the central nervous system and other tissues. Dogs with two copies of the deletion may develop uncoordinated movements, intention tremor, increased muscle tone, short spastic episodes, reduced swallowing reflex and poor weight gain from about two weeks of age. Severity can vary, but CACA is a serious neurological disorder.

Practical value of this test

• Breeders can distinguish clear dogs, carriers and genetically affected dogs before planning matings.
• The result helps avoid carrier x carrier matings and lowers the risk of puppies with CACA.
• In young Belgian Shepherds with ataxia, tremor or swallowing problems, the test supports a concrete genetic explanation.
• The test helps distinguish CACA from other shepherd-type ataxias such as SDCA1 and SDCA2.
• Carriers can be kept responsibly in breeding when combined with clear partners.

Inheritance and result

The disorder is autosomal recessive. N/N means that the deletion was not detected. N/CACA means carrier. CACA/CACA causes SELENOP-related CACA and is reported as an affected genotype.