A genetic mutation in the RELN gene has been discovered in White Swiss Shepherd dogs, resulting in cerebellar hypoplasia (CH), a condition in which the cerebellum fails to fully develop.
Despite being born healthy, affected puppies encountered difficulties such as weight gain failure and progressive ataxia at approximately 2 weeks of age. These puppies had trouble standing, walking in a straight line, and latching onto the breast, even though their suckling reflex was normal.
Affected puppies had to be euthanised aged four weeks due to worsening symptoms. A post-mortem examination highlighted brain abnormalities, including severe CH with lissencephaly (anomalies of the cortical surface folds) and moderate internal hydrocephalus, characterised by enlarged lateral ventricles and fourth ventricle.
