Homozygous CADPS2 mutations cause neurodegenerative disease with Lewy bodies in parrots

Objective: To describe the genetic and pathological findings of three Yellow-crowned Amazon parrot (Amazona ochrocepahala) siblings with a severe and rapidly progressive neurological phenotype. Conclusions: Our data suggest that a homozygous mutation in the CADPS2 gene causes a severe neurodegenerative phenotype with LB in parrots. Although CADPS2 variants have not been reported to cause PD in humans, further investigation of this gene in model organisms might provide important insights into the pathophysiology of LB disorders.