Disease overview

Ataxia means "without coordination". Degeneration of the cerebellar structures causes ataxia, which is a neurological sign of defective motor coordination that can affect gait, balance, speech, and gaze. The cerebellum is the part of the brain responsible for controlling coordination and balance as it supports planning, timing, and force of movements and fine tunes complex movements.

Gene name

KCNIP4

Inheritance

Autosomal recessive

Signs and symptoms

Dogs affected by cerebellar disease have uncoordinated gaits (ataxia), intention tremors, and lack of balance. Muscles of the eyes may be affected, presenting with rhythmic eye flicking called "nystagmus". Symptoms of this early-onset disease present by 3-5 months of age and become progressively worse, causing rapid decline in coordination and movement.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Clinical signs associated with this disease can arise from different causes, such as inflammation, infection, or abnormal and excessive growth of tissue (neoplasia). A veterinarian can perform diagnostics to help identify the cause, and genetic testing is necessary to determine if there is an underlying genetic cause.

Breeds at higher risk

Citations

Jenkins CA, Kalmar L, Matiasek K, Mari L, Kyöstilä K, Lohi H, Schofield EC, Mellersh CS, De Risio L, Ricketts SL. Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs. PLoS Genet. 2020 Jan 30;16(1):e1008527. doi: 10.1371/journal.pgen.1008527. PMID: 31999692; PMCID: PMC7012447.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.