Test Detail
Cerebellar ataxia (Russell/Fox terriers)
Neurological · Dog
Hereditary cerebellar ataxia of the Russell group of terriers and the Fox terrier, caused by a mutation in KCNJ10 (potassium channel Kir4.1). It presents with progressive ataxia, with or without myokymia (fasciculations and muscle rippling) and with or without seizures, and is therefore also known as spinocerebellar ataxia with myokymia and seizures (SAMS). It is a distinct entity from late-onset CAPN1 ataxia, which is offered as a separate test in the Parson Russell terrier.
Incidence
Described in the Russell group of terriers (Jack, Parson and Russell terrier) and in the smooth fox terrier and the toy fox terrier (Gilliam et al. 2014; Rohdin et al. 2015). No consolidated carrier frequencies are available for the panel breeds as a whole.
Breeder management
- Test breeding animals before mating
- Do not mate two carriers
- A carrier may be mated to a clear animal; test the offspring intended for breeding
- Do not breed affected animals
- Do not confuse this test with the CAPN1 test for the Parson Russell terrier
- Do not mate two carriers
- A carrier may be mated to a clear animal; test the offspring intended for breeding
- Do not breed affected animals
- Do not confuse this test with the CAPN1 test for the Parson Russell terrier
Specialist notes
Differential diagnosis with CAPN1 ataxia (Parson Russell terrier), with acquired cerebellar ataxias and with other conditions with myokymia. Electromyography may show myokymic discharges. There is no specific curative treatment; management is supportive and includes seizure control when present.
References
1. Gilliam D et al. 2014. A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both. Journal of Veterinary Internal Medicine. PMID: 24708069
2. Rohdin C et al. 2015. A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds. Acta Veterinaria Scandinavica. PMID: 25998802
3. Gast AC et al. 2016. Genome-wide association study for hereditary ataxia in the Parson Russell Terrier and DNA-testing for ataxia-associated mutations in the Parson and Jack Russell Terrier. BMC Veterinary Research. PMID: 27724896
4. OMIA:002089-9615. Ataxia, cerebellar, KCNJ10-related. Online Mendelian Inheritance in Animals.
2. Rohdin C et al. 2015. A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds. Acta Veterinaria Scandinavica. PMID: 25998802
3. Gast AC et al. 2016. Genome-wide association study for hereditary ataxia in the Parson Russell Terrier and DNA-testing for ataxia-associated mutations in the Parson and Jack Russell Terrier. BMC Veterinary Research. PMID: 27724896
4. OMIA:002089-9615. Ataxia, cerebellar, KCNJ10-related. Online Mendelian Inheritance in Animals.