Cerebellar cortical degeneration

Disease overview

Cerebellar Cortical Degeneration is a neurodegenerative disease that affects several canine breeds; however, the mode of inheritance has only been determined in Hungarian Vizslas. 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

SNX14

Inheritance

Autosomal recessive

Signs and symptoms

Dogs affected by cerebellar disease have uncoordinated gaits, intention tremors, lack of balance, and can be slow or unable to respond to threats. Muscles of the eyes may be affected, presenting with rhythmic eye flicking called "nystagmus".

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Diagnostic testing to rule out other diseases may include cerebrospinal fluid (CSF) analysis, complete blood cell analysis, blood biochemistry, thyroid testing, urinalysis, brainstem auditory-evoked response, and advanced imaging such as CT or MRI scans of the brain.

Breeds at higher risk

Hungarian Vizsla

Citations

Fenn J, Boursnell M, Hitti RJ, Jenkins CA, Terry RL, Priestnall SL, Kenny PJ, Mellersh CS, Forman OP. Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed. BMC Genet. 2016 Aug 26;17(1):123. doi: 10.1186/s12863-016-0433-y. PMID: 27566131; PMCID: PMC5002145.

Disclaimer

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