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LABOKLIN (UK)| Genetic Diseases | Dogs| Cerebellar Ataxia (CA1)
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Cerebellar Ataxia (CA1)

Test number: 8860
Gene: CA1
Price: £ 48.00 (including VAT)
Breeds
Belgian Shepherd Dog (Groenendael) , Belgian Shepherd Dog (Laekenois ) , Belgian Shepherd Dog (Malinois) , Belgian Shepherd Dog , Belgian Shepherd Dog (Tervuren) , Pyrenean Mountain Dog (Great Pyrenees) .
The Disease

Cerebellar Ataxia (CA1)

Cerebellar Ataxia (CA1) is caused by an autosomal recessive variant in the RALGAPA1 gene, which has been identified in the Belgian Shepherd breeds.

Affected puppies develop cerebellar dysfunction and are less active and alert compared to healthy littermates. The puppies show a wide-based stance and ataxic gait, exaggerated gait movements as well as stumbling, staggering and intention tremor of the head. Mild proprioceptive deficits can also be detected and the occulovestibular response seems to be normal to reduced. Clinical examinations of cerebrospinal fluid and blood remain unremarkable.

CA1 has an early onset of around 4 weeks of age, when the activity and mobility of the puppies increases. In some cases, the cerebellar symptoms were slowly progressive, requiring the puppies to be euthanized due to the severity of the symptoms at the age of 5 weeks. In other cases, the clinical signs were stable until the age of 11 week and the dogs reached adulthood without obvious worsening of the symptoms.

Trait of Inheritance
Autosomal recessive mode 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 Cerebellar Ataxia (CA1). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / CA1 [ 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 Cerebellar Ataxia (CA1) 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: CA1 / CA1 [ 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 Cerebellar Ataxia (CA1) and will pass the mutant gene to its entire offspring
Sample Requirements
Buccal Swabs or 0.5 - 1 ml blood in EDTA Blood Tube
Turnaround
1-3 weeks
Price
£ 48.00 (including VAT)

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See also:

 
 
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