Test Detail
Hereditary ataxia (HA) of the Gordon setter and Bobtail
Neurological · Dog
Hereditary cerebellar ataxia of juvenile to adolescent onset described in the Old English Sheepdog (Bobtail) and Gordon Setter, caused by a variant of the autophagy gene RAB24. It produces progressive cerebellar degeneration with incoordination of gait and balance. It is one of the best molecularly characterized hereditary ataxias in dogs.
Incidence
Documented in Old English Sheepdog and Gordon Setter with the same variant (Agler et al. 2014). No published population frequency data.
Breeder management
- Test Old English Sheepdog and Gordon Setter breeding dogs before mating
- Autosomal recessive inheritance: do not use homozygotes as breeding dogs
- Do not cross two carriers (25 % homozygotes per litter)
- A carrier may be crossed with a clear individual; test the offspring intended for breeding
- Record the genetic status in the pedigree
- Autosomal recessive inheritance: do not use homozygotes as breeding dogs
- Do not cross two carriers (25 % homozygotes per litter)
- A carrier may be crossed with a clear individual; test the offspring intended for breeding
- Record the genetic status in the pedigree
Specialist notes
Differential diagnosis with other degenerative and malformative ataxias (e.g. Chiari malformation, spinocerebellar degenerations). The RAB24 test is specific for this variant and does not rule out other causes of ataxia.
References
Agler C 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 Genet. PMID: 24516392