Cerebellar Ataxia
Cerebellar Ataxias (CAs) are a group of disorders in which there is a degeneration in the movement center of the brain, known as the cerebellum. The degeneration leads to a lack of coordination in movements.
Found in
1 in 5,000 dogs
in our testing
Key Signs
Progressive ataxia, Hypermetria, Intention tremors, Wide-based stance
Age of Onset
1 to 4 yrs
Junior to adult onset
Inheritance
Autosomal Recessive
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.
Likelihood of the Condition
High likelihood
At risk dogs are highly likely to show signs of this disease in their lifetime.
What to Do
Here’s how to care for a dog with CA
Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.
For Veterinarians
Here’s what a vet needs to know about CA
In Old English Sheepdogs, the first signs of cerebellar ataxia are usually observed at 6 months to 4 years of age. The onset of clinical signs in Gordon Setters is usually at the age of 6 to 10 months. Characteristic signs include ataxia (uncoordinated movements) and hypermetria (overreaching movements). Intention tremors, wide-based stance, and nystagmus (involuntary eye movements) are also observed on occasion. Cerebellar ataxia is a slowly progressing condition in both breeds.
Upon initial observation of clinical signs, affected dogs should be monitored as the condition progresses and practical advice should be given to ensure quality of life is maintained. For instance as the disease progresses affected dogs may find going up and down stairs and moving on smooth surfaces challenging, so assistance may be needed.
For Breeders
Planning to breed a dog with this genetic variant?
There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.
This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to occur. A carrier dog with one copy of the CA mutation can be safely bred with a clear dog with no copies of the CA mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the CA mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the CA mutation could develop due to a different genetic or clinical cause.
Technical Details
| Gene | RAB24 |
|---|---|
| Variant | A>C |
| Chromosome | 4 |
| Coordinate | 36,055,678 |
All coordinates reference CanFam3.1
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References & Credit
Credit to our scientific colleagues:
Agler, C., Nielsen, D. M., Urkasemsin, G., Singleton, A., Tonomura, N., Sigurdsson, S., … Olby, N. J. (2014). Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24. PLoS Genetics, 10(2). View the article
