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. A mutation in ATP1B2 causes cerebellar dysfunction through improper DNA handling.

Gene name

RAB24

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 disease present as early as 6 months of age and become progressively worse, causing rapid decline in coordination and movement.

How is it diagnosed

Clinical signs are suggestive of a cerebellar disease, although not specific for this mutation. Other causes must be ruled out if a genetic cause is not readily apparent. Advanced imaging such as an MRI can help diagnose this condition. 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

Agler C, Nielsen DM, Urkasemsin G, Singleton A, Tonomura N, Sigurdsson S, Tang R, Linder K, Arepalli S, Hernandez D, Lindblad-Toh K, van de Leemput J, Motsinger-Reif A, O'Brien DP, Bell J, Harris T, Steinberg S, Olby NJ. Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. PLoS Genet. 2014 Feb 6;10(2):e1003991. doi: 10.1371/journal.pgen.1003991. PMID: 24516392; PMCID: PMC3916225.

Disclaimer

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