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. This is an early-onset, progressive disease.

Gene name

KCNJ10

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 2-6 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

, , , Russell Terrier, Smooth-Haired Fox Terrier

Citations

Gast AC, Metzger J, Tipold A, Distl O. Genome-wide association study for hereditary ataxia in the Parson Russell Terrier and DNA-testing for ataxia-associated mutations in the Parson and Jack Russell Terrier. BMC Vet Res. 2016 Oct 10;12(1):225. doi: 10.1186/s12917-016-0862-x. PMID: 27724896; PMCID: PMC5057501.

Gilliam D, O'Brien DP, Coates JR, Johnson GS, Johnson GC, Mhlanga-Mutangadura T, Hansen L, Taylor JF, Schnabel RD. A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both. J Vet Intern Med. 2014 May-Jun;28(3):871-7. doi: 10.1111/jvim.12355. Epub 2014 Apr 7. PMID: 24708069; PMCID: PMC4238845.

Rohdin C, Gilliam D, O'Leary CA, O'Brien DP, Coates JR, Johnson GS, Jäderlund KH. A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds. Acta Vet Scand. 2015 May 23;57(1):26. doi: 10.1186/s13028-015-0115-1. PMID: 25998802; PMCID: PMC4445810.

Disclaimer

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