Polioencephalopathy in Eurasiers

This rare genetic disease affects the grey matter of the brain and is already present in puppies. The main symptoms include progressive ataxia (impaired coordination of movements), convulsions and strabismus (squint). No disorders of consciousness or behavioural changes have been observed.

The cause of the disease is a missense mutation XM_038531348.1:c.823A>G in the MECR gene, which encodes mitochondrial trans-2-enoyl-CoA reductase.

The mutation shows autosomal recessive mode of inheritance. It means that the mutation will be expressed only in individuals that inherit the mutant allele from each parent (recessive homozygote). A heterozygote is an individual that inherited the mutant allele from one parent and shows no symptoms and is clinically healthy but can pass the mutant allele to its offspring.

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References:

Rawson, F., Christen, M., Rose, J., Paran, E., Leeb, T., Fadda, A. : Polioencephalopathy in Eurasier dogs. J Vet Intern Med 38:277-284, 2024. Pubmed reference: 38041431.