Cerebellar Ataxia (juvenile onset)

(Canine hereditary ataxia)

 

Gene: RAB24

Transmission: Autosomal, recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: substitution, RAB24 gene: c.113 A>C, p.(Q38P), exon1

Medical system: Nervous

Breeds: Airedale Terrier, Gordon Setter, Old English Sheepdog, Poodle - Standard

Age of onset of symptoms: variable, between 6 months and 4 years

Cerebellar ataxia, also called cerebellar abiotrophy, refers to a family of hereditary neurological diseases seen several breeds of dogs that affect the animal’s ability to coordinate movements.  Cerebellar ataxia (juvenile onset) is the specific disease seen in the Old English Sheepdog and the Gordon Setter breeds.  Signs of the disease are evident between 6 months to four years of age, and the disease progresses slowly over several months to several years.  Clinical signs include a lack of coordination in movements, a problem with equilibrium, a stiff posture, and intention tremors of the head and limbs.  Over time the affected animal can lose control of body position, can no longer climb stairs and has difficulty standing upright.   The Purkinje cells of the cerebellum are the principal cells affected.

 

References:

OMIA link: [1913-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Stee K, Van Poucke M, Lowrie M, et al. (2023) Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med. [pubmed/37341581]

Agler C, Nielsen DM, Urkasemsin G, et al. (2014) Canine hereditary ataxia in Old English Sheepdogs and Gordon Setters is associated with a defect in the autophagy gene encoding RAB24. PLOS Genetics 10(2):e1003991. [pubmed/24516392]