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Neonatal Encephalopathy (Poodle Type) Overview

Neonatal Encephalopathy (Poodle Type)
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene: Activating transcription factor 2 (ATF2) on Chromosome 36

Variant Detected: Base Substitution c.152T>G p.Met51Arg

Severity: Scale 5 is the most extreme in severity. It comprises rapidly fatal diseases that may also cause a significant decrease in the quality of life.

Mode of Inheritance: Autosomal Recessive

Test Overview: Neonatal Encephalopathyis an inherited neurologic disease. Affected puppies are smaller than littermates at birth, have difficulty nursing after a few days of life, and often die by 1 week of age. By 3 weeks of age, surviving puppies present with neurologic symptoms including muscle weakness, tremors, inability to walk, wide-based stance and frequent falling. The disease quickly progresses to severe seizures that become non-responsive to treatment. Affected dogs typically die or are euthanized by 7 weeks of age.

Research Citation(s): Chen X, et al. A neonatal encephalopathy with seizures in standard poodle dogs with a missense mutation in the canine ortholog of ATF2. (2008) Neurogenetics 9;41-49.

Associated Breed(s): Cavalier King Charles Spaniel,  Goldendoodle,  Labradoodle ,  Standard Poodle,  Spoodle,  Mixed Breed,  Australian Labradoodle ,  Groodle,  Australian Cobberdog,