DNA test CLCeroid lipofuscinosis

Details about the disease

CL affects the function of special structures present within all cells called lysozymes, which are responsible for degrading used cellular material. The mutation breaks the chain of degradation, causing toxic intermediates to accumulate affecting all cells, but particularly cells of the nervous system.

Clinical signs

Affected dogs appear normal at birth, but begin to exhibit clinical signs early in life – around 1- 2 years of age. The age of onset and severity of the disease can vary greatly among individuals. The clinical signs include progressive motor decline with seizures and loss of coordinated muscle movements, cognitive decline (decline in mental processes such as learning, memory and attention) and abnormal behaviour. Visual impairment may occur.

How it is inherited

The disease is described as an autosomal recessive condition. This means that a dog must inherit two copies of an abnormal gene (one from its mother and one from its father) before its health is affected. A dog that inherits only one copy of the abnormal gene (from its mother or its father) will have no signs of the disease, but will be a carrier and may pass the gene on to any offspring.

Which laboratories test for this condition?

A list of laboratories and DNA tests can be found at the following link http://www.thekennelclub.org.uk/health/for-breeders/dna-testing-simple-inherited-disorders/worldwide-dna-tests/

More Information

More information can be found at http://www.thekennelclub.org.uk/item/313
The BVA website can be found at www.bva.co.uk

Other schemes & tests currently available:

BVA/KC Hip Dysplasia Scheme

BVA/KC/ISDS Eye Scheme

DNA test - CEA/CH

DNA test - CL

DNA test - TNS

BVA/KC/ISDS Gonioscopy

The list above is not necessarily comprehensive, other available health tests can be found <here>