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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.
The cause of the disease is mutations in the PPT1 gene (palmitoyl protein thioesterase). In dachshunds, NCL1 is caused by the insertion of c.736_737insC in exon 8 of the PPT1 gene, resulting in the formation of a non-functional PPT1 enzyme. In Cane Corso dogs, NCL1 is caused by the c.124 + 1G> A mutation in the same gene, which leads to the destruction of the splice site and, as a result, also to the formation of a non-functional enzyme.
Symptoms
Symptoms usually appear around 9 months of age. These include loss of vision, ataxia, sound sensitivity, uncontrolled head movements, and general weakness. Behavioral changes also develop - anxiety, severe dementia, decreased interaction with other dogs. Retinal vascular thinning and degeneration are observed in affected dogs.
Diagnostics
Characteristic changes in the behavior and physiology of the dog.
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