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Cerebellar Ataxia (SELENOP)

Affected Genes: SELENOP

Inheritance: Autosomal Recessive

Variant(canFam6):
chr4:66629496 deletion

General Information: Cerebellar Ataxia (SELENOP) is an inherited neurological disorder in dogs where a genetic mutation in the SELENOP gene leads to the degeneration of neurons in the cerebellum, resulting in progressive loss of coordination and balance. Dogs with two copies of the associated SELENOP gene mutation are predisposed to this condition, which can manifest at any age. Symptoms include uncoordinated movements, tremors, difficulty walking, a wide-based stance, and other signs of impaired motor function. As the disease progresses, it can lead to severe neurological impairment and significantly impact the dog's quality of life. While not all dogs with the mutation will show symptoms immediately, early intervention and supportive care can help manage the condition and maintain the dog’s quality of life.

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 SELENOP gene can determine if a dog is a carrier of Cerebellar Ataxia (SELENOP). This condition is inherited in an Autosomal Recessive manner, meaning that dogs must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, possessing only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to eliminate this mutation from breeding lines, and breeding two carriers together is not recommended to avoid producing affected pups. Dogs that are not carriers have no increased risk of having affected offspring.

References:
Christen M, Högler S, Kleiter M, Leschnik M, Weber C, Thaller D, Jagannathan V, and Leeb T.. Deletion of the SELENOP gene leads to CNS atrophy with cerebellar ataxia in dogs. PLoS Genet. 2021 17(8):e1009716.