A frameshift variant in the SLC6A5 gene is associated with startle disease in a family of Old English Sheepdogs.

A 2-week-old litter of three Old English Sheepdog puppies presented with episodic generalised muscle hypertonia and cyanosis triggered by touch and noise. Owing to poor response to therapy and progression of symptoms, the puppies were euthanised. Post-mortem histology revealed perineuronal incrustations in the spinal cord, suggestive of ischemia or neuronal necrosis.

Genetic counseling in veterinary medicine: towards an evidence-based definition for the small animal practice.

Background: In human medicine, questions regarding heritable disorders are dealt with by clinical geneticists and genetic counselors and both the field, their roles and the tools they use are well-defined. Even though the prevalence of diseases is far higher and scientific literature agrees on expectations towards an increased importance, this does not seem to be the case in veterinary medicine. While we hypothesize that there will be an overlap, some characteristics uniquely linked to veterinary medicine might not be covered.