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

SPTBN2

Inheritance

Autosomal recessive

Signs and symptoms

Dogs affected by spinocerebellar ataxia often have uncoordinated gaits, intention tremors, muscle contractions, and lack of balance. This form of the disease presents shortly after birth, with clinical signs noticeable within weeks. As the disease progresses, there is an increased chance of falling and difficulty returning to a standing position.

How is it diagnosed

Clinical signs may be suggestive of spinocerebellar ataxia, but other causes must be ruled out if a genetic cause is not readily apparent. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

Forman OP, De Risio L, Stewart J, Mellersh CS, Beltran E. Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet. 2012 Jul 10;13:55. doi: 10.1186/1471-2156-13-55. PMID: 22781464; PMCID: PMC3413603.

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.

Disclaimer

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