Results
Pet health test
Neuronal Ceroid Lipofuscinosis 6 (CLN6 gene, Australian Shepherd)

Neuronal Ceroid Lipofuscinosis 6 (CLN6 gene, Australian Shepherd)

Neuronal ceroid lipofuscinosis type 6 (NCL6) is a rare neurodegenerative disease caused by a mutation in the CLN6 gene. Characteristic of lipofuscinosis, toxic accumulations occur within neurons.

Symptoms

Symptoms of NCL6 include a rapid deterioration of vision that occurs around 18 months of age and results in complete blindness, behavioral disturbances, anxiety and loss of coordination that worsen over the months.

Disease Management

There is no cure for NCL6, and treatment usually focuses on symptom relief. Given the severity of the disease, euthanasia is resorted to.

Genetic basis

This disease follows an autosomal recessive mode of inheritance. Autosomal recessive inheritance means that the dog, regardless of sex, must receive two copies of the mutation or pathogenic variant to be at risk of developing the disease. Both parents of an affected dog must carry at least one copy of the mutation. Animals with only one copy of the mutation are not at increased risk of developing the disease, but may pass the mutation on to future generations. Breeding between dogs carrying genetic variants that can cause disease, even if they do not show symptoms, is not recommended.

Technical report

Neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases characterized by the accumulation of fluorescent lipofuscin granules in the lysosomes of neurons, resulting in early neuronal death and progressive neurodegeneration of the central nervous system. These diseases are caused by mutations in various genes, the age of onset of symptoms and progression vary with the specific form of the disease and the underlying mutation. NCL6 is a disease caused by mutations in the CLN6 gene, the function of which is unknown. Here we analyze the mutation that Katz et al. identified in an Australian shepherd dog, called .829T>C, which causes the disease in homozygosis. Only two dogs affected by this condition have been identified.

Most affected breeds

Australian Shepherd

Bibliography

Katz ML, Farias FH, Sanders DN,et al. A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. J Biomed Biotechnol. 2011;2011:198042.