Degenerative encephalopathy (DE)

LABOKLIN Service ID: 8959

In the breed Nova Scotia Duck Tolling Retriever (NSDTR), a slowly progressive hereditary neurological disorder with the name degenerative encephalotphy (DE) can be found. Affected dogs show frequent episodes of pronounced involuntary movements during sleep, cognitive impairment, anxiety, increased sensitivity to sensory stimuli and compulsive behaviors. Furthermore, a degeneration of several brain regions takes place. In later stages of the disease, some dogs also exhibit aggressive behavior, gait abnormalities and urinary and fecal incontinence. The onset of signs has been reported to vary between the age of 2 months and 5 years and severity of signs increases over time.
A genetic variant of the RB1CC1 gene has been found to be a risk variant for the degenerative encephalopathy in NSDTRs. The RB1CC1 protein plays a central role in macroautophagy, a process by which damaged intracellular components are wrapped into membrane-bounded organelles (autophagosomes), which then fuse with lysosomes and degrade the contents in order to maintain cellular homeostasis. Consistently, brain neurons of an affected dog were found to contain abnormal lysosomal storage body-like inclusions.
The genetic test allows breeders to identify carriers of the risk variant, so that affected offspring can be avoided through targeted breeding planning. Additionally, the genetic test can be used to confirm the diagnosis in dogs with the corresponding symptoms.

Method	sequencing
Breed list	Nova Scotia Duck Tolling Retriever
Heredity	autosomal rezessive
Duration	1 - 2 weeks after arrival of the sample in the lab