The disease is caused by a missense mutation in the ATF2 gene, which normally encodes activating transcription factor 2 that participates in the cellular responses to a wide variety of stimuli.
In humans, a similar syndrome has been reported due to neonatal hypoxia.
Most affected puppies die within 5 weeks of birth, with symptoms of ataxia, whole-body tremors and, by 4 to 6 weeks of age, severe generalized clonic-tonic seizures.
Diagnosis can be tentatively established on clinical symptoms and age but definitive diagnosis requires histological analysis of brain samples and DNA testing.
histopathology usually reveals brain involvement with a reduced size of the cerebellum, containing dysplastic foci consisting of clusters of intermixed granule and Purkinje neurons
There is no treatment for this condition and although intensive nursing care may allow affected pups to be kept alive for a few weeks, the survival rate is poor.
- Chen X et al (2008) A neonatal encephalopathy with seizures in standard poodle dogs with a missense mutation in the canine ortholog of ATF2. Neurogenetics 9(1):41-49
- Alderliesten T et al (2012) Antemortem cranial MRI compared with postmortem histopathologic examination of the brain in term infants with neonatal encephalopathy following perinatal asphyxia. Arch Dis Child Fetal Neonatal Ed Nov 21