We have recently published our preliminary genetic investigation of paroxysmal dyskinesia (PxD), a movement disorder, that is prevalent in the numerically small Norwich Terrier breed and for which no cause has been established to date in this breed. Our paper has been published in the peer-reviewed, open access journal, Animal Genetics.
Jenkins CA, De Risio L, Dietschi E, Leeb T, Rytz U, Schawalder P, Schoenebeck JJ, Mellersh CS, Ricketts SL. A preliminary genome-wide association study of paroxysmal dyskinesia in the Norwich Terrier. Anim Genet. 2024 Oct 12. doi: 10.1111/age.13479
We conducted an initial genome-wide association study (genome scan) followed by a small replication study in a set of Norwich Terriers with publicly available genetic data for a different disease, where we worked with collaborators to generate a small set of PxD-affected and unaffected dogs nested within this study that we could use for this analysis.
This work has provisionally implicated two genes that may harbour DNA variants that affect a dog’s susceptibility to the disorder. We plan to continue to investigate these genes and their role in neurological disease using whole genome sequencing (WGS) data from an affected Norwich Terrier generated during the Give a Dog a Genome project.