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Neuronal Ceroid Lipofuscinosis 12

Neuronal Ceroid Lipofuscinosis 12 is an inherited lysosomal storage disease affecting dogs, particularly Australian Cattle Dog, Australian Stumpy Tail Cattle Dog, Miniature Australian Cattle Dog, causing progressive neurological symptoms such as abnormal gait, anxiety, seizures, and vision loss, typically appearing around 6 years of age.

Affected Genes: ATP13A2

Inheritance: Autosomal Recessive

Variant(canFam6):
chr2:77744970: C>T

Breed: Australian Cattle Dog
Australian Stumpy Tail Cattle Dog
Miniature Australian Cattle Dog

General Information: Neuronal ceroid lipofuscinosis 12 is an inherited lysosomal storage disease in dogs, characterized by abnormalities in cellular metabolism leading to the accumulation of waste compounds in the nervous system. Symptoms, which typically appear around 6 years of age, include abnormal gait, anxiety, decreased reflexes, sensitivity to sounds, sleep problems, inappropriate vocalization, difficulty with mobility, aggression, tremors, seizures, weakness, loss of coordination, and vision loss. Affected dogs usually die or are humanely euthanized by 9 years of age.

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 ATF2 gene can identify whether a dog is a carrier of Neonatal Encephalopathy with Seizures (NEWS). This disease is inherited in an autosomal recessive manner, meaning a dog must inherit two copies of the mutated gene (one from each parent) to develop the disease. Carrier dogs do not show symptoms but can produce affected pups if bred with another carrier. Each pup from such a pairing has a 25% chance of inheriting the disease and a 50% chance of being a carrier of the ATF2 gene mutation. Reliable genetic testing is essential for responsible breeding practices. To prevent the birth of affected pups and eliminate the mutation from breeding lines, it is recommended to avoid breeding two carriers together. Dogs that are not carriers do not have an increased risk of having affected offspring.

References:
Schmutz I, Jagannathan V, Bartenschlager F, Stein VM, Gruber AD, Leeb T, Katz ML. ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis. Mol Genet Metab. 2019 127(1):95-106.