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

ITPR1

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 4 months of age, and slowly progresses. This is a progressive disease that typically leads to severe dysfunction by 1 year of age leading to humane euthanasia.

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

Citations

Forman OP, De Risio L, Matiasek K, Platt S, Mellersh C. Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1. Mamm Genome. 2015 Feb;26(1-2):108-17. doi: 10.1007/s00335-014-9547-6. Epub 2014 Oct 30. PMID: 25354648; PMCID: PMC4305091.

Disclaimer

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