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Cerebellar Ataxia 2 (Belgian Shepherd Type)

Cerebellar Ataxia 2 (SDCA2) Belgian Shepherd Type) is a progressive, early-onset neurological disease in dogs, characterized by difficulties in regulating potassium in the central nervous system, resulting in impaired motor coordination, tremors, seizures, and typically leading to a poor prognosis due to the severity and rapid progression of symptoms.

Affected Genes: ATP1B2

Inheritance: Autosomal Recessive

Variant(canFam6):
chr5:32690018-32690019: 277 bp SINE Insertion

Breed: Belgian Malinois
Belgian Sheepdog
Belgian Shepherd
Belgian Tervuren
Groenendael
Laekenois

General Information: Cerebellar Ataxia 2 (SDCA2 - Belgian Shepherd Type) is an early-onset, progressive neurological disease inherited by dogs, with symptoms emerging as early as four weeks old and advancing rapidly. Affected dogs struggle to regulate potassium in the central nervous system, crucial for nerve function, leading to difficulties in coordination and balance. Owners often notice symptoms like stumbling, staggering, circling, pacing, tremors, and falls, while some dogs may also develop seizures and blindness. Due to the severity and rapid progression of symptoms, most affected dogs experience a poor prognosis within weeks of symptom onset.

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 of the ATP1B2 gene identifies the presence of variants for Cerebellar Ataxia 2 (SDCA2) in dogs. 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, Dietschi E et al: A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2). G3 (Bethesda) 2017 Vol 7 (8) pp. 2729-2737.

Mauri N, Kleiter M, Leschnik M, et al: A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1). G3 (Bethesda) 2017 Vol 7 (2) pp. 663-669.