Testing of dogs: Myeloencephalopathy, progressive degenerative

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Progressive degenerative myeloencephalopathy in the Australian Shepherd

Progressive degenerative myeloencephalopathy is a neurological disease that affects the spinal cord and brain and leads to the progressive breakdown of myelin sheaths and nerve fibres, impairing the ability to transmit nerve excitement. The first signs of the disease appear in dogs between 4 and 19 months of age and include hypermetria (overreach of limbs while walking), a wobbly or stiff gait and difficulty walking up stairs and getting up. Ataxia worsens over time and the disease leads to an inability to walk and deficits in proprioception.

In Australian Shepherds, the disease is caused by mutation c.1169_1170dup in the PNPLA8 gene, encoding a phospholipase that is likely to be involved in mitochondrial lipid metabolism and is essential for mitochondrial function.

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.

References:

Abitbol, M., Jagannathan, V., Laurent, N., Noblet, E., Dutil, G.F., Troupel, T., de Dufaure de Citres, C., Gache, V., Blot, S., Escriou, C., Leeb, T. : A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia. Anim Genet 53:709-712, 2022. Pubmed reference: 35864734

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