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LABOKLIN (UK)| Genetic Diseases | Dogs| Hereditary Ataxia (HA)
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Hereditary Ataxia (HA)

Test number: 8449
Gene: HA
Price: £ 48.00 (including VAT)
Breeds
Australian Shepherd , Bobtail , Gordon Setter , Miniature American Shepherd , Norwegian Buhund , Norwegian Elkhound , Old English Sheepdog (Bobtail) .
The Disease
Hereditary Ataxia (HA) is a neurodegenerative disease that affect the cerebellum causing progressive gait disturbance in both humans and dogs.

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 similar to hereditary ataxias in humans.

The cause of the disease has been identified, it is a mutation in the gene associated with the process of autophagy by which cell proteins and organelles are removed and recycled and its critical role in maintenance of the continued health of cells is becoming clear. The defect in the autophagy process results in neuronal death.

Trait of Inheritance
.

Inheritance : AUTOSOMAL RECESSIVE trait


 

Sire

 

Dam

 

Offspring

         
clear
clear
100% clear
         
clear
carrier
50%  clear + 50% carriers
         
clear
affected
100% carriers
         
carrier
clear
50%  clear + 50% carriers
         
carrier
carrier
25% clear + 25% affected + 50% carriers
         
carrier
affected
50% carriers + 50% affected
         
affected
clear
100%  carriers
         
affected
carrier
50% carriers + 50% affected
         
affected
affected
100% affected

 


Clear

Genotype: N / N [ Homozygous normal ]

The dog is noncarrier of the mutant gene.

It is very unlikely that the dog will develop Hereditary Ataxia (HA). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / HA [ Heterozygous ]

The dog carries one copy of the mutant gene and one copy of the normal gene.

It is very unlikely that the dog will develop Hereditary Ataxia (HA) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%.

Carriers should only be bred to clear dogs.

Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)

 

Affected

Genotype: HA / HA [ Homozygous mutant ]

 

The dog carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring.

The dog is likely to develop Hereditary Ataxia (HA) and will pass the mutant gene to its entire offspring
Description

The disease is caused by a mutation in the RAB24 gene

Clinical symptomps begins in juvenile to young adult dogs aged from six months to four years. Dogs develop pronounced hypermetria, a truncal sway and intention tremor, and signs progress to cause severe gait disturbances. Cerebellar atrophy can be identified by magnetic resonance imaging (MRI) and histopathological findings include loss of Purkinje cell, granule cell and molecular layer neurons causing atrophy of the cerebellar cortex. In more detailed work on Gordon Setters, profound changes in cerebellar neurotransmitter levels and synapses have been described, along with the development of Purkinje neuron axonal spheroids.

Sample Requirements
Buccal Swabs or 0.5 - 1 ml blood in EDTA Blood Tube
Turnaround
2 - 3 weeks
Price
£ 48.00 (including VAT)

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