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Genetic test for PRA with Neurodegeneration (PCYT2 deficiency) in the Saarloos Wolfdog

A genetic variant of the PCYT2 gene in Saarloos wolfdogs can be associated with a disease that leads to both blindness and neurodegeneration.

Affected dogs suffer from retinal degeneration, which begins in early adulthood. The typical ophthalmological changes of generalized progressive retinal atrophy (PRA) occur, while the first clinical signs become visible between 20 and 46 months of age. In addition, the affected dogs show neurological deficits from later adulthood, such as gait abnormalities, weakness of the hind limbs, tremor, ataxia, decline in cognitive abilities and behavioral problems, especially aggression towards the owner. Epileptic seizures have also been reported in some dogs.

Unfortunately, the affected dogs often have to be euthanised due to the progressive neurological signs and the resulting impairment of their quality of life.