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Spinocerebellar Ataxia (Jack Russell Type)

Spinocerebellar Ataxia (Jack Russell Type)

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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

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:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

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):

Australian Terrier, Basenji, Jack Russell Terrier, Mixed Breed, Parson Russell Terrier,

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