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.

 

Inheritance: autosomal recessive

 

Mutation: c.1623delG, p.P541fsX597 in exon 16 of the ATP13A2 gene

 

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: Tibetan Terrier

 

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