Cerebellar Ataxia 1 (Belgian Shepherd Type)

Other Names: Spongy Degeneration with Cerebellar Ataxia 1, SDCA
Affected Genes: KCNJ10
Inheritance: Autosomal Recessive
Mutation: chr38:22970027 (canFam3): T/C
Breed(s): Belgian Malinois, Belgian Sheepdog, Belgian Shepherd, Belgian Tervuren, Groenendael, Laekenois, Lakenois

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Common Symptoms

Cerebellar Ataxia 1 (Belgian Shepherd Type) is a progressive, early-onset, inherited disease affecting Belgian shepherd dogs. Symptoms usually present in the first four to eight weeks of life and progress quickly. Affected dogs are unable to regulate potassium, needed for proper nerve function in the central nervous system. These dogs have difficulty controlling leg movements and keeping their balance. Owners may observe pets stumbling, staggering, circling, pacing, tremors, and falling. Most affected dogs are euthanized before 6 months of age due to severity and progression of clinical signs.

Testing Tips

Genetic testing of the KCNJ10 gene in will reliably determine whether a dog is a genetic Carrier of cerebellar Ataxia 1 (Belgian Shepherd Type). This disease is inherited in an Autosomal Recessive manner in dogs. This means 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 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 KCNJ10 gene mutation. Reliable genetic testing is important for determining breeding practices. To eliminate this mutation from breeding lines and avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Dogs that do not carry 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

  • Mauri N, Kleiter M, Leschnik M, Högler S, Dietschi E, Wiedmer M, Dietrich J, Henke D, Steffen F, Schuller S, Gurtner C, Stokar-Regenscheit N, O'Toole D, Bilzer T, Herden C, Oevermann A, Jagannathan V, Leeb T. A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1). G3 (Bethesda). 2017 Feb 9;7(2):663-669. PubMed: 28007838 [PubMed: 28007838]
  • Van Poucke M, Stee K, Bhatti SF, Vanhaesebrouck A, Bosseler L, Peelman LJ, Van Ham L. The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs. Eur J Hum Genet. 2017 Feb;25(2):222-226. PubMed: 27966545 [PubMed: 27966545]