-CL Information-

The Border Collie Club of NSW Inc

 

© 2003 Border Collie Club of NSW Inc

The Border Collie Club of NSW gives permission for this brochure to be reproduced provided that it is not altered or abridged.

Please give a copy of this brochure to your Vet and anyone interested in buying a puppy from you.

Ceroid Lipofuscinosis (CL)

This is a rare disease, which is inherited. It is not contagious, but it is fatal and cannot be treated. It affects the nervous system including the brain. The likelihood of a Border Collie developing the disease is very small as can be seen by the number of cases identified since 1980, when the first case was diagnosed. There have been less than 30 cases notified, indicating that the incidence of CL is less than 1 in 1800 pure bred Border Collies.

DNA Research has identified the gene for the identical disease, which occurs in humans and is known as Battens Disease. When this gene is identified in Border Collies, we will be able to eliminate the disease from the breed in one or two generations.

The CL Sub-Committee of The Border Collie Club of NSW Inc investigates the incidence of the disease and sister clubs are informed when affected cases are notified.

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

CL has been found in other breeds of dogs ie Cocker Spaniels, Dachschunds, English Setters, Miniature Schnauzers, Rough Collies, and Salukis as well as in Devon Cattle, South Hampshire Sheep and in Siamese Cats

The occurrence of CL in Border Collies is not the fault of any one person or group. The defective gene was carried by an imported dog at a time when the disease was unidentified. Since then, CL has occurred sporadically, as most Australian bred Border Collies are descended from that dog. Therefore, no breeder can be 100% sure that their stock does not carry the defective gene.

Line breeding increases the risk of producing genetic defects and diseases.

Symptoms and Diagnosis of CL (Storage Disease) top^

Affected animals appear normal until aged approx 15 months. From that age any or all of the following signs may be noted:

ö Unreasonable apprehension or fear of familiar objects/surroundings ö sight disturbance, ö abnormal gait – is unsteady on feet and has difficulty in climbing or jumping, tends to prop or goose step, ödemented behaviour, ö mania, ö hyperactivity, ö rage, ö disorientation, ö fixations, ö loss of toilet training,
ö strange or abnormal behaviour.

The progress and effect of the symptoms will steadily continue to deteriorate and medication cannot improve the condition. Affected animals have all been euthanased by the age of 3½  years. CL symptoms can be confused with other brain disorders.

To date, there is no test available to identify carriers of the defective gene. Suspected cases can be confirmed by brain biopsy from the age of 7 months. A post mortem will also give an accurate diagnosis.

If you are concerned that your dog may have CL, please contact the CL Sub Committee or Dr Alan Wilton, University of NSW School of Biochemistry.

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 CL one of the enzymes is missing. Current research has determined that CL has an autosomal recessive mode of inheritance, ie both the sire and dam of an affected dog must be either carriers or affected themselves. A mating of a carrier animal to a clear (non carrier) animal can produce carrier offspring.

 

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Advice to Breeders  top^

Do not breed from PROVEN carrier animals ie dogs that have offspring with CL. No puppy of your breeding should have carriers on both sides of a three generation pedigree, ie great grandparents.

 Be aware of the risks of line breeding, in particular avoid line breeding to proven carriers and their close relatives.

If you or your vet suspects that your dog may have CL, please contact a member of this subcommittee. Complete confidentiality must be observed by the CL subcommittee members, and we can advise and help you where necessary. Suspected Cases can be referred to: Prof Virginia Studdart, University of Melbourne, School of Veterinary Science, Werribee Vic 3030. Ph (03) 9741 3500.

Dr Wilton and Scott Melville are conducting Genetic research to develop a DNA test and can be contacted at:-

School of Biochemistry and Molecular Genetics,

Faculty of Life Sciences,

University of NSW,

Sydney 2052, Australia

Phone: +61 2 9385 1674  FAX: +61 2 9385 1483

EMAIL: scott@unsw.edu.au

If a suspected case is to be euthanased, please contact Dr Alan Wilton or Scott Melville prior to this being carried out, to arrange for the collection of blood and tissue samples for the CL DNA bank.

Ph +2  9385 2019, Fax +2 9385 1483, Email: a.wilton@unsw.edu.au

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

The Border Collie Club of New South Wales Inc, Australia, is committed to finding a DNA test. Financial support is essential to the research program and the CL Subcommittee works on fund raising as well as research and education. Breeders are asked to make donations to the Fighting Fund from sales of puppies or from stud fees, and all those interested in the Border Collie are asked to contribute to the fund.

Donations to CL research can be sent to:

University of NSW (CL research) c/- Dr Alan Wilton at the above address;

or

Border Collie Club of New South Wales Inc c/- Mrs B Miller, 34 Darvall Rd, Eastwood, NSW 2122

 

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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 other litters have been found to have affected animals, in all (from 1980 to 1998) a total of 18 litters were diagnosed as having produced CL.

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 CL in Victorian Border Collies.

The Border Collie Club of NSW Inc. then 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 CL and pedigrees of PROVEN carriers have been published with the very generous permission of the owners /breeders of affected or carrier animals.

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Genetic Inheritance of CL   top^

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

Clear: Has not inherited a defective gene, ie is totally free of the disease.

Carrier: Has inherited a defective gene, ie shows no symptoms, but may pass the gene to its offspring.

Affected: Has inherited the defective gene from both parents and has or will develop the disease.

Important points to remember are:-

v All progeny of affected animals must be either carriers or affected.

v To produce an affected animal, both parents must be either carriers or affected.

The following diagrams show the mating possibilities using the mathematical ratios of Mendel.

These indicate the probable inheritance of CL for any individual puppy from such matings

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WebMaster Wayne Nicholls last updated: 28 August, 2003

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