EVG, molekularna diagnostika
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Neonatal encephalopathy (NE) is developmental brain disease of Standard Poodle. Affected puppies are small and weak. Puppies surviving first week develop ataxia and a whole-body tremor. Symptoms are progressively getting worse. The disease progression can be accompanied by severe generalized seizures and puppies die before seven weeks of age.

NE of Standard Poodles is caused by a mutation of ATF2 gene encoding activating transcription factor (ATF-2), which is involved in the regulation of a variety of cellular processes. It is required for normal development and function of the central nervous, respiratory, immune, reproductive, renal and skeletal systems. NE is caused by an ATF-2 deficiency as the mutation interferes with activation of ATF-2.

Inheritance: Autosomal recessive - read more.

Mutation: ATF2 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: Standard Poodle

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


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