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EVG, molekularna diagnostika
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Slovenia



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Description

Neuronal ceroid lipofuscinoses (NCLs) are a group of heritable diseases characterized by progressive neuronal degeneration and the accumulation of autofluorescent cytoplasmic inclusions in the brain, retina and other tissues. Clinical symptoms and progress of the disease include increased rates of irritability, with the possibility of outbursts of aggression, hallucinations, hyperactivity and seizures. Most animals lose their ability to coordinate everyday muscle activities. With the increased neurodegeneration affected dogs also develop psychological abnormalities and ataxia.

 

Inheritance: autosomal recessive- read more

Mutation: CLN8 gene

Genetic test: Disease or carrier can be identified by genetic testing at any age. The PCR method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs.

Disease control: read more

Affected breeds: English Setter, Irish Setter, Gordon Setter

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.

 

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