Ceroid Lipofuscinosis in The Border Collie inherited

Information to assist owners and breeders

Ceroid Lipofuscinosis (C.L.) in the Border Collie is a rare disease which affects the nerve cells of the body. It is also known as Storage Disease.

It is an inherited disease. It is not contagious.

Recent DNA research (November 1995) has identified the gene for the identical disease which occurs in humans, and is known as . Once this gene is identified in Border Collies, we will be able to eliminate the disease from the breed in one or two generations.

In Australia the first known case of Ceroid Lipofuscinosis in Border Collies was found in 1980. Since then until April 1996, 27 cases diagnosed from 15 litters have been notified.

The Border Collie Club of NSW Inc. has established a sub-committee to investigate the incidence of the disease in the breed. Notified cases are recorded and information is shared with sister Border Collie clubs.

The names of proven identified carriers and their pedigrees have been published (with permission from the owners of the animals) to improve the knowledge of inheritance.

C.L. has been found overseas in other breeds of dogs (Salukis, English Setters, Cocker Spaniels, Dachshunds), in Devon Cattle and South Hampshire Sheep and in Siamese Cats. Affected Chihuahuas have been found in Australia.

Donations from the Club are made to a DNA research programme at the University of NSW, with the aim of identifying the defective gene responsible for the disease.

The Veterinary Clinical Centre at the University of Melbourne has also been engaged in research.

Affected dogs do not display any signs until aged approx. 15 to 18 months and owners of animals with suspect symptoms are asked to contact the Club.

The likelihood of a Border Collie developing the disease is very small whatever its ancestry and carrier dogs are not themselves affected in any way. They can be kept as non-breeding pets as in other aspects they are normal healthy animals.

The occurrence of C.L. in Border Collies is not the fault of any one person or group. The carrier gene was probably present in a dog imported at a time when the disease had not been diagnosed. For many years the disease lay dormant or occurred sporadically & has surfaced now as a breed problem which we must try to control.

Clinical Signs and Diagnosis of C.L. (Storage Disease)

Affected animals appear normal until aged approximately 18 months. However, from the embryonic stage, there is a metabolic defect which allows a waste product ‘ceroid lipofuscin’ to accumulate in body cells.

The brain cells have very little room for waste products and symptoms emerge when an accumulation of waste begins to compress and destroy healthy brain cells. As a result, by 18 months of age some or all of the following signs may be noted:

• Unreasonable apprehension or fear of familiar objects/surroundings, sight disturbance.
• Abnormal gait – is unsteady on feet, has difficulty with jumping or climbing or placing feet, tends to prop or goose-step.
• Demented behaviour, mania, hyperactivity, rage.
• The disease progresses rapidly once the initial signs appear and the distressed animals have not been kept past the age of 2 1/2 years. Unfortunately there is no treatment for an affected animal.

To date there is no test available to identify which dogs have inherited the disease or are carriers of the defective gene. Suspected cases can be confirmed by brain biopsy. A post mortem examination will give an accurate diagnosis.

Veterinary Aspects & Inheritance of C.L.

Ceroid Lipofuscinosis is one of a group of Metabolic Storage Diseases. It is characterised by the accumulation of ceroid lipofuscin, a wax-like liquid waste product of cell metabolism which is normally removed by body enzymes. In cases of C.L. one of the enzymes is missing.

Current research has determined that C.L. has an autosomal recessive mode of inheritance, ie:

• Both male and female are equally susceptible.
• Sire and dam of an affected dog must be either carriers or affected themselves.
• Mating a carrier animal to a clear (non-carrier) animal can produce carrier offspring.

Control

Guidelines are being set for breeders to avoid using PROVEN carrier animals except for research.

Suspected Cases can be referred to:

University of Melbourne,
School of Veterinary Science,
Werribee Victoria Australia
Phone (03) 741 3500.

Updated information is published in the Club Newsletters to assist members and to maintain awareness of research developments.

Financial support is essential to the research program and breeders are asked to make donations to the Fighting Fund from sales or from stud fees.

History

Early this century, F.E. Batten studied and described the disease in children, hence the name Battens Disease. This is the same disease now being diagnosed in dogs and known as Ceroid Lipofuscinosis. It is hoped research being conducted on the disease in dogs will benefit the children suffering from Battens Disease. As in dogs, there is no cure and no treatment yet available. The life span of children with Battens Disease is approximately 7 years.

In June 1980, a 17 month old Border Collie bitch was referred to the University of Melbourne suffering from ‘fits’ and ‘sight disturbance’. In December that year another dog, a 19 month old male was also studied. After enquiries were made at the Eye and Ear Hospital, Melbourne, it was suggested that the dog was affected by Ceroid Lipofuscinosis. The dog was put down and the first case re-opened and compared. It was considered that the two animals suffered from the same condition.

Cases from 3 separate litters were diagnosed in 1985/86 and others were discovered in 87/88. Since then 6 other litters have been found to have affected animals, in all (from 1980 to 1996) a total of 15 litters are diagnosed as having produced C.L.

The Border Collie Club of Victoria published in 1989 a series of articles and in March 1989, Dr. R. Mitten delivered a lecture at the club which drew a large audience. A sub-committee was then elected to deal with all aspects of C.L. in Victorian Border Collies.

The Border Collie Club of NSW Inc. has also formed a sub-committee which acts in conjunction with the Victorian Club to verify disease related information. All Border Collie Clubs in Australia liaise to share information. Newsletters carry articles concerning C.L. and pedigrees of PROVEN carriers have been published with permission from the owners of affected animals. (See the Bordertales Supplement issued March 1994.)

Genetic Inheritance of C.L.

Genetically the dog/bitch falls into one of three categories:

• CLEAR: Has not inherited a defective gene.
• CARRIER: Has inherited the defective gene from a parent.
• AFFECTED: Has inherited the defective gene from both parents and has or will develop the disease.

Important points to remember are: