R316 Progressive Ataxia (PA)

Bovine Progressive Ataxia (PA) is a neurological disorder first described in the Charolais cattle. In 2018, a causal mutation was identified, which is responsible for most of the cases. This mutation inhibits the expression of K1F1C-protein. Normally, the K1F1C-protein produces myeline, covering and protecting the nerves. The mutation causes a deficiency of myelin, mainly in the cerebellum and brainstem. The disease has an autosomal recessive inheritance.

In heterozygous state (i.e. in carriers), the mutation is linked to improved muscle development. Selection for this quality by cattle farmers is likely to have lead to the increased frequency of this mutation in cattle populations.