Cerebellar Abiotrophy (CA) – Kelpie

Cerebellar Abiotrophy (CA) is a hereditary neurodegenerative disorder affecting the cerebellum. The cerebellum is the part of the brain responsible for balance, coordination, and fine motor control. In Kelpies this condition is linked to a mutation in the vacuole membrane protein 1 (VMP1) gene, which is important for neuronal maintenance and the cell’s natural clean‑up and recycling system. When this process does not work properly, nerve cells cannot maintain themselves and gradually deteriorate leading to progressive loss or improper development of Purkinje cells and other cerebellar cells involved in motor coordination. CA in the Kelpie is inherited in an autosomal recessive manner and typically becomes noticeable early in life, often from a few weeks to several months of age, though the severity and progression can vary widely.

Affected dogs may show ataxia (uncoordinated movement), a wide‑based stance, intention or head tremors, dysmetria (over‑ or under‑shooting movements), hypermetria (a high‑stepping gait), and reduced proprioception, especially in the hind limbs. Tremors or whole‑body shaking may worsen with excitement. The condition is non‑painful and does not affect the dog’s awareness or mental state. In more severe cases, seizures may occur when the dog is overheated or highly stimulated, which include excitement as well as physical activity. Some dogs show only mild, intermittent incoordination with little or no progression, while others develop more significant motor impairment over time.

Pubmed ID: 36292596

Year published: 2022

Omia ID: 2602

Omia variant ID: