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, force of movements, and fine tunes complex movements.

Gene name

CAPN1

Inheritance

Autosomal recessive

Signs and symptoms

Dogs affected by spinocerebellar ataxia exhibit uncoordinated gaits, intention tremors, and lack of balance. This disease typically presents with pelvic limb incoordination around 2 to 9 months of age, and slowly progresses. Over time, there is an increased chance of an affected dog falling and having 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, Mellersh CS. Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed. PLoS One. 2013 May 31;8(5):e64627. doi: 10.1371/journal.pone.0064627. PMID: 23741357; PMCID: PMC3669408.

Cherubini GB. Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec. 2014 Mar 8;174(10):258. doi: 10.1136/vr.g1973. PMID: 24736826.

Disclaimer

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