Hereditary ataxia (HA)/ Spinocerebellar ataxia (SCA) – Australian Shepherd

Hereditary ataxias occur in different dog breeds with diverse molecular etiology. In Australian Shepherds the disease was identified between 4 and 19 months of age. Initial clinical signs are moderate ataxia, more obvious on the pelvic limbs, hypermetria and slight to no proprioceptive deficits on the pelvic limbs. With the disease progression clinical signs become more prominent and include inability to walk without help, severe spasticity of the hind limbs, proprioceptive deficits on all four limbs and tetraparesis or tetraplegia. Most dogs are euthanized due to severe clinical signs.

Inheritance: autosomal recessive

Mutation: PNPLA8 gene

Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.