Cerebellar Ataxia (Finnish Hound Type)

Other Names: Progressive early onset ataxia
Affected Genes: SEL1L
Inheritance: Autosomal Recessive
Mutation: chr8:53778458 (canFam3): T>C

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Common Symptoms

Cerebellar Ataxia (Finnish hound type) is a progressive, early onset, inherited disease affecting dogs. Symptoms are usually present by three months of age and progress quickly. Affected dogs have marked degeneration of the Cerebellum which causes ataxia. These dogs have difficulty controlling leg movements and keeping their balance. Changes to the cerebellum can usually be identified via MRI. Ataxia eventually limits the dog’s ability to eat and affected dogs are often euthanized.

Breed-Specific Information for the Norrbottenspets

The Mutation of the SEL1L gene associated with cerebellar Ataxia (Finish hound type) has been identified in Norrbottenspets. Though the exact frequency in the overall Norrbottenspets population is unknown, approximately 13% out of 103 Norrbottenspets tested were carriers of the mutation.

Testing Tips

Genetic testing of the SEL1L gene in Norrbottenspets will reliably determine whether a dog is a genetic Carrier of cerebellar Ataxia (Finnish hound type). This disease is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the SEL1L gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Norrbottenspets that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

  • Donner J, Kaukonen M, Anderson H, Moller F, Kyostila K, Sankari S, Hytonen M, Giger U, Lohi H. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One. 2016 Aug 15;11(8):e0161005. [PubMed: 27525650]
  • Kyöstilä K, Cizinauskas S, Seppälä EH, Suhonen E, Jeserevics J, Sukura A, Syrjä P, Lohi H. A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. PLoS Genet. 2012; 8(6):e1002759. [PubMed: 22719266]