Hereditary cerebellar ataxia / HA (RAB24-related) - Old English Sheepdog and Gordon Setter

What does this test examine?

This genetic test analyses the RAB24 variant c.113A>C for RAB24-related hereditary cerebellar ataxia in the Old English Sheepdog and Gordon Setter. The condition is also known as hereditary ataxia, HA, cerebellar ataxia, RAB24-related ataxia, canine hereditary ataxia, cerebellar degeneration. The test shows whether the dog is clear, a carrier or has two copies of the tested variant.

What does this condition mean?

RAB24 is involved in intracellular transport and autophagy-related cellular pathways. The tested missense variant disrupts normal nervous-system function, especially in circuits that control coordinated movement.

Affected dogs can develop progressive cerebellar ataxia with unsteady gait, poor coordination, tremor and difficulty moving normally. Identifying carriers is especially important when the variant is present in a breed line.

Practical value of this test

• reveals hidden carriers before they are used in breeding combinations
• helps avoid carrier-to-carrier matings and reduces the risk of puppies with neurological disease
• gives breeders concrete information to manage valuable lines responsibly
• supports targeted selection, litter planning and clear communication with puppy buyers or breed organisations
• can help recognise an inherited cause more quickly in young dogs with coordination problems

Who benefits from this test?

The test is especially valuable for breeders working with related lines, owners who want to know the genetic status of a breeding dog and veterinarians who want to place ataxia signs in a clearer genetic context. Knowing the result before mating allows a healthy carrier to be used responsibly without unintentionally producing affected puppies.

Inheritance and result

The condition is inherited as autosomal recessive. A dog without the variant will not pass on this specific variant. A carrier usually has no clear symptoms, but can pass the variant on. A dog with two copies develops the tested hereditary ataxia condition for this variant.