Cerebellar abiotrophy (CA) in the Australian Kelpie
Cerebellar abiotrophy (CA) is a hereditary neurological disorder that causes changes in the cerebellum, which is particularly responsible for movement coordination and balance.
Two genetic risk markers associated with CA have been identified in the Australian Kelpie. Clinical manifestations of the disease include pronounced ataxia, head tremor, a wide-legged stance of the hind limbs and a conspicuous gait pattern in which the legs are raised excessively when walking.
One variant affects the LINGO3 gene and is inherited in an autosomal recessive manner with incomplete penetrance. The first symptoms of this variant can appear as early as 4 to 10 weeks of age, although the severity of the symptoms can vary greatly. The second variant in the VPM1 gene shows a later onset of the disease (from about 4-6 months or older) and follows an autosomal recessive inheritance with complete penetrance.
Genetic testing makes it possible to identify carrier animals at an early stage and make well-founded breeding decisions.


