Cerebellar Ataxia (Finnish Hound Type)
Affected Genes: SEL1L
Inheritance: Autosomal Recessive
Variant(canFam6):
chr8:53336611: A>G
Breed: Finnish Hound
Norrbottenspets
General Information: Cerebellar Ataxia (CA) is a progressive neurological condition that manifests as early as 3 months of age. The disease primarily affects the cerebellum, the part of the brain responsible for coordinating voluntary movements, resulting in ataxia, or the loss of control over body movements. Symptoms include significant difficulties in maintaining balance and controlling leg movements. Diagnostic imaging, such as MRI, often reveals changes in the cerebellum indicative of this condition. The progressive nature of the ataxia typically leads to severe mobility restrictions, affecting the dog’s ability to eat and perform daily activities, often necessitating euthanasia for humane reasons due to the poor 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 SEL1L gene is essential for identifying the presence of variants for Cerebellar Ataxia (CA) (Finnish Hound Type).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:
Donner J, Kaukonen M, Anderson H, Moller F, Kyostila K, Sankari S, Hytonen M, Giger U, Lohi H. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One 2016 11(8):e0161005.
Kyöstilä K, Cizinauskas S, Seppälä EH, Suhonen E, Jeserevics J, Sukura A, Syrjä P, Lohi H. A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. PLoS Genet. 2012 8(6):e1002759.