Cerebellar Abiotrophy (CA) – Kelpie

Cerebellar Abiotrophy 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.