Genetic cause of brain disorder found in flatcoated retrievers
Researchers Paul Mandigers and Peter Leegwater from the Expertise Center for Veterinary Genetics, with the help of a breeder, discovered the genetic mutation indicating a predisposition for the brain disorder called ‘cerebellar ataxia’ in flatcoated retrievers. In collaboration with the Flatcoated Retriever Club, potential parent dogs are now being screened to prevent the birth of pups with this hereditary condition.
Cerebellar ataxia is a movement disorder that arises when the cerebellum does not function properly. The difficulty in coordinating walking results in a so-called 'drunken gait'. Additionally, the dogs exhibit a subtle head tremor.
Mandigers is an Associate Professor at Utrecht University and also works as a veterinary neurologist at the Evidensia Animal Hospital in Arnhem. In 2021, he observed several flatcoated retriever puppies in the clinic that could not walk straight. In collaboration with the breeder, he examined more dogs.
Abnormality in cell to cell signal transmission in the cerebellum
Since no abnormalities were found in blood tests, MRI scans, or pathology of dogs with cerebellar ataxia, he suspected an abnormality in the signal transmission from cell to cell in the cerebellum. With support from the Flatcoated Retriever Club and in collaboration with his colleague, molecular geneticist Leegwater, he initiated a genetic study.
Prevent the spread of this serious disorder
The genetic mutation indicating a predisposition for neonatal cerebellar ataxia has now been found, and a DNA test has been developed to detect the mutation. In cooperation with the breed club, potential parent dogs can be screened for this mutation to avoid the birth of pups with this predisposition. This helps prevent the further spread of this serious disorder, showcasing a successful collaboration between veterinarians, scientists, and breeders.