Cerebellar abiotrophy / CA (VMP1-related) - Kelpie

What does this test analyse?

This genetic test analyses the VMP1 variant g.34218228C>A / p.P160Q in the Kelpie. The disorder is called cerebellar abiotrophy, abbreviated CA, and is also described as cerebellar ataxia or Kelpie ataxia.

What does this mean for the dog?

The cerebellum controls balance, coordination and fine motor control. In VMP1-related CA, nerve cells in this area are affected. Affected dogs may develop ataxia, wide-based stance, head or intention tremors, hypermetria, high or exaggerated stepping, reduced proprioception and tremors when excited. This VMP1 form is mainly linked to later onset, often from several months of age.

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 strongly reduces the risk of pups with CA.
• In Kelpies with coordination problems, tremors or abnormal gait, the test helps confirm VMP1-related CA genetically.
• The test supports selection in working and breeding lines where movement, health and usability are important.

Inheritance and result

This variant is autosomal recessive. C/C means that the tested variant was not detected. C/A means carrier: the dog is not affected but can pass the variant on. A/A causes the genetic form of VMP1-related cerebellar abiotrophy and is reported as an affected genotype.