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Description
Hereditary neurodegenerative disease refers to lysosomal storage diseases. It leads to the accumulation of lipofuscin pigment in nerve cells and other tissues of the body. Lipofuscin is found everywhere in all tissues and organs and is formed as a result of the oxidation of unsaturated fats and in the event of damage to organelle membranes.
In dachshunds, NCL2 is caused by the c.325delC deletion. in exon 4 of the TPP1 gene (tripeptidyl-peptidase). The enzyme encoded by the TPP1 gene is involved in the cleavage of N-terminal tripeptides from the substrate inside the lysosome, and as a result of mutation, and, as a result, the absence of a functional protein, undecomposed products accumulate in the cells, affecting the normal functioning of the brain and nervous system.
Symptoms
Symptoms of neuronal ceroid lipofuscinosis type 2 usually appear before the age of one year. These include vomiting, weakness, forgetting learned commands, and general mental degeneration. Ataxia and vision problems often develop, including complete blindness. There are behavioral changes such as hyperactivity, aggression and circular movements.
Diagnostics
Characteristic changes in the behavior and physiology of the dog.
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