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Cerebellar Degeneration

Cerebellar Degeneration (CA) is an inherited neurological disorder in dogs, characterized by the progressive loss of cerebellar function leading to severe movement and coordination difficulties.

Affected Genes: RAB24

Inheritance: Autosomal Recessive

Variant(canFam6):
chr4:36022933: A>C

Breed: Gordon Setter
Old English Sheepdog

General Information: Cerebellar Degeneration (CA) in dogs is a devastating genetic condition that typically manifests between 6 months and 4 years of age. The disease targets the cerebellum, a critical region of the brain responsible for coordinating voluntary movements. Symptoms begin subtly and worsen progressively, including tremors, a high-stepping gait (hypermetria), and severe ataxia, which is a lack of muscle control or coordination of voluntary movements. As the disease advances, these symptoms intensify, severely affecting the dog's quality of life. Due to the progressive nature of the disease and the eventual significant decline in life quality, many affected dogs are humanely euthanized.

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 the RAB24 gene is essential in identifying carriers of Cerebellar Degeneration (CA). 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:
Agler C, Nielsen DM, Urkasemsin G, Singleton A, Tonomura N, Sigurdsson S, Tang R, Linder K, Arepalli S, Hernandez D, Lindblad-Toh K, van de Leemput J, Motsinger-Reif A, O’Brien DP, Bell J, Harris T, Steinberg S, Olby NJ. Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24. PLoS Genet. 2014 10(2): e1003991.

De Lahunta A, Fenner WR, Indrieri RJ, Mellick PW, Gardner S, Bell JS. Hereditary Cerebellar Cortical Abiotrophy in the Gordon Setter. J Am Vet Med Assoc. 1980 177(6):538-541.