Neonatal Encephalopathy (Poodle Type)

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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.

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:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

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):

Australian Cobberdog, Australian Labradoodle , Cavoodle, Goldendoodle, Groodle, Labradoodle , Mixed Breed, Spoodle, Standard Poodle,