Testing of dogs: Cerebellar ataxia

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Progressive cerebellar ataxia with early onset in Finnish Hound

Ataxia is described as a disorder of coordination of movements and represents a relatively non-specific clinical symptom. In dogs, it can be caused by mutations in more than eight different genes. In the Finnish hound, the disorder is caused by a missense mutation c.1972T>C; p.Ser658Pro in the SEL1 gene. Rapidly progressive generalized cerebellar ataxia, body tremors and general failure to thrive are observed in puppies as young as 3 months of age. Neurodegeneration, characterized by a marked loss of Purkinje cells with secondary changes in the cerebellar cortex, is the cause of overall cerebellar shrinkage.

The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.



Kyöstilä, K., Cizinauskas, S., Seppälä, E.H., 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 8:e1002759, 2012. Pubmed reference: 22719266.

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Usual turnaround time: 10 business days
1 test price: 56.00 $ without VAT