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Hereditary Ataxia (Autophagy) Overview

Hereditary Ataxia (Autophagy)
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene: RAB24, member RAS oncogene family on Chromosome 4

Variant Detected: Base Substitution c.113A>C p.Gln38Pro

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: 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.

Research Citation(s): Agler C, et al. Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. (2014) PLoS Genet 10(2);e1003991.

Associated Breed(s): Gordon Setter ,  Old English Sheepdog ,  Mixed Breed,