Ceroid Lipofuscinosis

What is Ceroid Lipofuscinosis?

Ceroid Lipofuscinosis, better known as CL, is an inherited disease often referred to as Storage disease. It is a rare disease that affects your Border Collie’s nerve cells when the build-up of waste products in the brain start manifesting themselves as symptoms in your dog at around 18 months old.

CL is a wax like waste by-product of the cell metabolism. Because of a metabolic defect in the embryo, the body’s enzymes fail to remove the waste as they would in a healthy dog.

There is little likelihood of your Border Collie developing CL no matter what breeding lines they come from. And, it is not a contagious disease. If your dog is a carrier then it can live a healthy, normal life, desexed as a family pet.

Australia recorded its first case of CL in 1980 and in the next 16 years another 27 cases were recorded coming from 15 litters. The New South Wales Border Collie Club has setup a subcommittee to study CL in Australia. If you have a dog diagnosed with CL contact your local Border Collie Club for more information.

The fact that CL has been found predominantly in Australian and New Zealand Border Collies is not something that can be blamed on anyone. It is thought the disease came into Australia from an imported dog many years ago and lay dormant, or occasionally occurred but was probably not recognized as CL.

It is a disease that needs to be controlled now that Border Collie breeders are aware of its existence and the effects. It is easily controlled with testing and can be bred out in a couple of generations.

What causes CL in Dogs?

For your Border Collie puppy to be affected by CL both its parents must carry the defective gene. The problem is that it is not until puppies develop the disease that it becomes tangible. Hence, there are far more carriers than we know about and there is little known about CL.
It is classed as being an autosomal recessive mode of inheritance, which means:

What Breeds of are most at Risk of Developing CL?

Once a dog develops CL it eventually leads to nerve degeneration in the brain and eye cells. It has been most commonly reported among Australia and New Zealand bred Border Collie dogs.

This has been a major concern for breeders as this disease develops slowly and causes the dog to waste away.

Border Collie’s are not the only breed of dog this rare disease affects.
Other dog breeds it can affect include:

How can CL in Dogs be Prevented?

The best way of preventing CL in Border Collies is for all breeders to have all breeding stock genetically tested for the disease before mating them. This will tell you if the dog is a carrier or not.

If the dog is a carrier then it should be desexed and never bred from.

There is nothing you can do to prevent your dog from developing CL, but you can report a CL diagnosis to the Border Collie Club in your state. Your results can then be recorded on a national database for future reference for breeders and puppy buyers.

What are the Signs and Symptoms of CL?

Your Border Collie will show no signs up until is around 18 months old, but your dog has a metabolic defect from the time it was an embryo. This metabolic defect lets CL build-up in your dog’s body cells. CL is a waste product that takes up to 12 months to 2 years to build-up in your Border Collie’s eye and brain cells.

Your dog’s cells do not have much room for storage and starts showing symptoms when the waste product begins destroying healthy brain cells.
By the time your Border Collie is 18 months old it may develop visual, motor, and mental signs including all or some of the following:

If you see any of these symptoms in your Border Collie, take your dog to the vet...

How is CL diagnosed?

CL is confirmed using a brain biopsy when a puppy is around 7 months old and it can be done anywhere in Australia, in consultation with the Universities of Victoria and New South Wales.

Approximately 3 percent of Australian Border Collies are CL carriers and about 1 in 1000 puppies is born with the disease.

Since 2005, a DNA test has been available to identify the CL gene, which is a recessive gene defect. By testing your stud dogs before using them you can guarantee the dogs you breed with are CL free.

The test is conducted using a blood sample and identifies if the dog is clear, affected, or a carrier of the disease. The point of the test is to test breeding dogs and to only breed with dogs that are clear.

If you are a puppy buyer, check with your breeder about CL and whether their dogs have been CL tested. Ask for copies of the DNA reports of the dogs in your puppy’s lines so you can see for yourself that they are all clear of CL.

How curable is CL in dogs?

There is no cure for CL in your Border Collie. It is a cruel disease that sees a dog diagnosed with CL rarely surviving past 2 years old because of the need to euthanize the dog for humane reasons.

You Border Collie will appear normal at birth and start developing symptoms from around 12 months old onwards. The severity and speed of the disease depends in the individual dog.
There is almost no treatment for your dog once it is diagnosed with CL though your vet may try enzyme or gene replacement, and specific drugs. Once the symptoms appear, the disease progresses quickly.

List of Border Collies Tested for CL?

Border Collie health runs a public database listing where Border Collie breeders can publicly list their CL results. You can also add any results from your dogs to help Border Collie breeders across the world eliminate CL from the breed http://bordercolliehealth.com/CLdatabase.html.

CL in a Nutshell

Since 2005, there has been a DNA test available for this disease so there is no longer any reason to be breeding dogs with CL.

CL is a broadly used term for describing a collections of diseases characterised by the accumulation of metabolic by-products in the brain and eye cells.

Your Border Collie will start showing signs between the age of 1 and 2 years old and display symptoms such as unusual aggression or dementia.

Once it is diagnosed, it will progress rapidly with little known treatment available other than to keep the dog as comfortable as possible and treat the symptoms. Usually by the time the dog 2 years old the disease, it will be so badly affected it has to be euthanized to stop its suffering.

Responsible breeder's DNA now test any stud stock before it is used in breeding programs.

Puppy buyers, there is no need to buy a puppy that may have CL if you ask your breeder for copies of the CL DNA reports.

Any breeder that refuses to send you a copy, is a breeder your should not buy a puppy from.