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Old English Sheepdogs and Gordon Setters suffer from a juvenile onset, autosomal recessive form of canine hereditary ataxia primarily affecting the Purkinje neuron of the cerebellar cortex.
The clinical and histological characteristics are analogous to hereditary ataxias in humans.
Linkage and genome-wide association studies on a cohort of related Old English Sheepdogs identified a region on CFA4 strongly associated with the disease phenotype.
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Associated Breed(s):
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Category:
Genetic Diseases
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.
Gene:
RAB24, member RAS oncogene family on Chromosome 4
Variant Detected:
Base Substitution c.113A>C p.Gln38Pro
Mode of Inheritance:
Recomended Screening:
Research Citation(s):