Neonatal Encephalopathy with seizures (NEWS)

 

Gene: ATF2

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution; ATF2 gene; c.152 T>G, p.(M51R), exon3

Medical system: Neurological

Breeds: Poodle - Standard

Age of onset of symptoms: From birth

Neonatal encephalopathy with convulsions (NEWS) is a genetic neurological disease seen in Poodles that will cause symptoms in puppies from birth.  Affected puppies are smaller than normal and for the first several days after birth will have difficulty drinking milk.  These puppies will often die by the age of one week; those that survive show signs of muscle weakness, tremors, difficulty walking, falling and general unresponsiveness to stimulation. The disease progresses and by four weeks puppies begin to have epileptic seizures that do not respond to treatment. These remaining affected puppies will die or will be euthanized before they reach 7 weeks of age.

 

References:

OMIA link: [1471-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Yu Y, Hasegawa D, Chambers JK, et al. (2020) Magnetic Resonance Imaging and Histopathologic Findings From a Standard Poodle With Neonatal Encephalopathy With Seizures. Front Vet Sci.7:578936 [pm/33244473]

Chen X, Johnson GS, Schnabel RD, Taylor JF, et al. (2008) A neonatal encephalopathy with seizures in standard poodle dogs with a missense mutation in the canine ortholog of ATF2. Neurogenetics 9:41-49. [pubmed/18074159]