Description: Neuronal ceroid lipofuscinoses (NCL) are a group of hereditary diseases characterized by progressive neuronal degeneration and accumulation of lipopigments (ceroid and lipofuscin) in lysosomes, autofluorescent cytoplasmic inclusions in the brain, retina and other tissues. The onset and clinical course of the disease are individual and highly variable. The rate of neurodegeneration increases with age. Clinical signs and disease progression include increased irritability with the possibility of aggression, hallucinations, hyperactivity, and seizures. Most animals lose the ability to coordinate daily muscle activities. With increased neurodegeneration, dogs develop psychological abnormalities and ataxia. Affected individuals Border collies rarely live more than 28 months.
Inheritance: autosomal recessive
Mutation: c.619C˃T in exon 4 of the CLN5 gene (Q206X, CFA22)
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: Border collie
Notes: In some animals, a causal mutation causing NCL has not been described, yet. Meanwhile, mutations in six different CLN1, 2, 3, 5, 6, 8 genes have been described with respect to NCL in animals and humans (Daly et al. 19998, Gupta et al. 2001), each mutation causing a unique form of NCL.