In the Nova Scotia Duck Tolling Retriever (NSDTR) breed, a slowly progressive hereditary neurological disorder known as Degenerative Encephalopathy (DE) has been identified. Affected dogs typically exhibit frequent episodes of pronounced involuntary movements during sleep, along with:
- Cognitive impairment
- Anxiety
- Increased sensitivity to sensory stimuli
- Compulsive behaviours
As the disease progresses, degeneration occurs in multiple brain regions. In later stages, some dogs may also develop:
- Aggressive behaviour
- Gait abnormalities
- Urinary or fecal incontinence
The onset of clinical signs has been reported to vary between 2 months and 5 years of age, with severity increasing over time.
A genetic variant in the RB1CC1 gene has been identified as a risk factor for DE in NSDTRs. The RB1CC1 protein plays a central role in macroautophagy—a cellular process in which damaged intracellular components are enclosed in membrane-bound organelles (autophagosomes), which then fuse with lysosomes to degrade their contents and maintain cellular homeostasis. Consistent with this mechanism, neurons in the brain of an affected dog were found to contain abnormal lysosomal storage body-like inclusions.
The genetic test enables breeders to identify carriers of the risk variant, helping to prevent affected offspring through informed breeding decisions. It can also support clinical diagnosis in dogs presenting with relevant neurological symptoms.
