Spinocerebellar Ataxia (Jack Russell Type) Overview
Spinocerebellar Ataxia (Jack Russell Type)
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Gene: Potassium voltage-gated channel subfamily J member 10 (KCNJ10) on Chromosome 38
Variant Detected: Base Substitution c.627C>G p.Ile209Met
Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.
Mode of Inheritance: Autosomal Recessive
Test Overview: Spinocerebellar ataxia (SCA) also referred to as hereditary ataxia is seen in the Parson Russell Terrier (PRT) or Jack Russell Terrier dog breed is a disease of progressive incoordination of gait and loss of balance. Clinical signs usually become notable between 6 and 12 months of age with affected dogs presenting with symmetric spinocerebellar ataxia particularly evident in the pelvic limbs. The degree of truncal ataxia, pelvic limb hypermetria and impaired balance is progressive, particularly during the initial months of disease. A certain degree of stabilisation as well as intermittent worsening may occur. At the later stages of the disease ambulation often becomes difficult, with owners often electing to euthanise affected dogs on welfare grounds
Research Citation(s): Gilliam, D. et al. A Homozygous KCNJ10 Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both. (2014) J Vet Intern Med 28;871–877.
Associated Breed(s): Jack Russell Terrier, Australian Terrier, Mixed Breed, Basenji,