Loading...

home
Order Tests for Dogs
DNA Tests
Hereditary Ataxia (Autophagy)

Description

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.

Recommended Breeding

Diseases

Hereditary Ataxia (Autophagy)

$ 50.00

1

Associated Breed(s):

Click here to view Associated Breeds

Labels:

Currently Undefined

A label cannot be assigned at this time as this is outside the defined scope

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

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:

Autosomal Recessive

OMIA Reference:

Click to View Full OMIA Reference