Cerebellar Ataxia 1 (Belgian Shepherd Type)
Affected Genes: KCNJ10
Inheritance: Autosomal Recessive
Variant(canFam6):
chr38:22215765: T>C
Breed: Belgian Malinois
Belgian Sheepdog
Belgian Shepherd
Belgian Tervuren
Groenendael
Laekenois
Lakenois
General Information: Cerebellar Ataxia 1 (SDCA1) in Belgian Shepherds, caused by a mutated in the KCNJ10 gene, manifesting as a severe neurodegenerative condition. Symptoms typically appear before two months of age and include a wide-based, ataxic gait, particularly affecting the hind limbs. Affected puppies often experience difficulty with balance, frequent falls, intention tremors, and may exhibit bunny hopping movements. Stress or physical exertion can exacerbate muscle spasms and other cerebellar symptoms. The condition is characterized by rapid progression, leading to seizures and severe motor impairments. Due to the intensity and quick progression of these symptoms, affected dogs are often euthanized at a young age for humane reasons.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for Cerebellar Ataxia 1 (SDCA1) in Belgian Shepherds focuses on identifying mutations in the KCNJ10 gene, which is crucial for potassium regulation affecting neuron cell activity in the central nervous system. This autosomal recessive disorder requires two copies of the mutated gene for a dog to be affected. Carrier dogs typically do not show symptoms, but breeding two carriers can produce affected pups, with each pup having a 25% chance of developing the disease. Genetic testing is essential for informed breeding practices to prevent the mutation. Breeding of two carrier dogs is not recommended.Non-carrier dogs have no increased risk of producing affected pups from this known variant.
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;7(2):663-669.
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 25(2):222-226.