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Cerebellar Hypoplasia

Cerebellar Hypoplasia (CH) causes difficulty controlling bodily movements (ataxia). The severity of the ataxia can vary between affected dogs and does not worsen with age.

Key Signs

Ataxia, Epileptic seizures, Cerebellar hypoplasia

Age of Onset

At birth

Present at birth

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 Cerebellar Hypoplasia

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 Cerebellar Hypoplasia

Clinical signs of cerebellar hypoplasia include ataxia of varying severity, from mild truncal sway and subtly uncoordinated gait to severe cerebellar ataxia and falling or rolling. Some dogs may exhibit epileptic seizures, nystagmus, or tremors. Clinical signs are present from birth and are typically noticed when puppies start to walk. Affected dogs will lack a menace reflex. The most severely affected puppies are usually euthanized. Some dogs exhibit only minor ataxia in adulthood.

Treatment is supportive care and symptomatic depending on the severity of the dog's ataxia.

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 develop. A carrier dog with one copy of the Cerebellar Hypoplasia mutation can be safely bred with a clear dog with no copies of the Cerebellar Hypoplasia mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the Cerebellar Hypoplasia mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Please note: It is possible that disease signs similar to the ones caused by the Cerebellar Hypoplasia mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene VLDLR
Variant Deletion
Chromosome 1
Coordinate 91,266,144

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Gerber, M., Fischer, A., Jagannathan, V., Drögemüller, M., Drögemüller, C., Schmidt, M. J., … Leeb, T. (2015). A deletion in the VLDLR gene in eurasier dogs with cerebellar hypoplasia resembling a dandy-walker-like malformation (DWLM). PLoS ONE, 10(2), 1–10. View the article

Bernardino, F., Rentmeister, K., Schmidt, M. J., Bruehschwein, A., Matiasek, K., Matiasek, L. A., … Fischer, A. (2015). Inferior cerebellar hypoplasia resembling a dandy-walker-like malformation in purebred eurasier dogs with familial non-progressive ataxia: A retrospective and prospective clinical cohort study. PLoS ONE, 10(2), 1–19. View the article