[CL in BCs]

in the Border Collie

(CL or Storage Disease)

The Border Collie Club of NSW Inc

October 1998 Release

Information to assist owners, breeders and veterinarians

This information must not be abridged in any way. Please give a copy of this release to your veterinarians.

This information may be freely downloaded, PROVIDED that all pedigrees of CL carriers are also downloaded.

Where required, the Border Collie Club of NSW Inc gives permission for this brochure to be reproduced, provided it is reproduced in full and without any alteration or omission, including the attached pedigrees.

1998 Border Collie Club of New South Wales Inc, Australia.

The Border Collie Club of NSW Inc gratefully acknowledges the Border Collie Club of Victoria for the initial information used in this brochure.

 

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

v It is an inherited disease. It is not contagious, but it is fatal and cannot be treated.

  • In Australia the first known case of Ceroid Lipofuscinosis in Border Collies was found in 1980.
  • The likelihood of a Border Collie developing the disease is very small whatever its ancestry.
  • This is reflected in the number of cases identified since 1980 – 18 litters containing 31 cases out of the approximately 15,000 Border Collies registered in Australia in that time – ie, the incidence is less than 1 in 1800.
  • Carrier dogs are not themselves affected in any way. They can be kept as non-breeding pets as to all appearances they are normal healthy animals.
 

v DNA research has identified the gene for the identical disease which occurs in humans, and is known as Batten’s Disease. Once this gene is identified in Border Collies, we will be able to eliminate the disease from the breed in one or two generations.

v 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.

v 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.

v CL 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 Rough Collies and Miniature Schnauzers have been found in Australia.

v 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.

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

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

 

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

 

Symptoms and Diagnosis of CL (Storage Disease)

 

Affected animals appear normal until aged approximately 15 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 2 years 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 has difficulty jumping or climbing or placing feet, tends to prop or goose-step.

  • Demented behaviour, mania, hyperactivity, rage.
  • Disorientation, fixations, loss of toilet training, strange or abnormal behaviours etc.
 

The disease usually progresses rapidly once the initial signs appear and the distressed animals have not been kept past the age of 3 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 from the age of 7 months. A post mortem examination will also give an accurate diagnosis. Again, a DNA test is the ideal solution for detection of both carriers and affected pups.

Veterinary Aspects & Inheritance of CL

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 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

Avoid using PROVEN carrier animals.

  • Line breeding where carriers are in the background should be avoided to minimise the probability of affected progeny.
  • The disease may not appear in every generation and some cases have occurred several generations from the last known case. For example, there may be 5 generations between a proven carrier and a new case, because the carrier gene may not have surfaced in the intervening animals

What Do We Do About It?

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 is conducting Genetic research to develop a DNA test and can be contacted at:-School of Biochemistry and Molecular Genetics, University of New South Wales, Sydney, NSW 2052

If a suspected case is to be euthanased, please contact Dr Alan Wilton 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

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 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.

Proven Carriers as of October 1999

(in alphabetical order)

NOTE: Click here for the 5 generation pedigrees of each affected litter.

Carrier Dogs Carrier Bitches
Ch Bundaliere Jazz Amatazz CD Blackbeck Black Mystic
Ch Byrnbala Rhyl Solette Crestvale Bonnie Lass CD
Ch Crestvale Gay Roger CDX Ch Crestvale Gay Serena
Ch Finestyle Sundancer Crestvale Natasha
Ch Gotrah Lancelot Lad CDX Finestyle Fancy Free
Ch Kennoway Bill Bailey Jenlehton Kirrie Bay
Ch Margian Skipper Too Kelsey Lady in Blue
Milangimbi Bronzed Gizmo Kennoway Our Wee Maggie
Aust Ch / Eng Sh Ch Nahrof No Comment Ch Lakemount Autumn Dew
Rosebrook Shar Moss Liric Opal Jayde
Ch Tallain Mengarvi CDX Marglo Blue Rhapsody
Tullaview Sono Spade Monsalvat Amazing Grace
A/NZ Ch Tullaview Trailblazer Rantara Shantelle Lace
Wallanguma Jock Rosebrook Corindi
Ch Werlak Beau Jade Tallain Tessera
Ch Beechwood BootsN All Ch Tullacrest Town Tart
Ch Tullaview Temptress

Further information can be provided by the Border Collie Club of NSW Inc CL Subcommittee.

Subcommittee members are:

Judy de Jong +2 9876 3926 Samantha Deryk + 2 45 736514
Karen Galbraith +2 9607 6364 Bettie Miller +2 9804 7602
Gail Van Look +2 9823 2462

Email: Judy de Jong

If calling from outside Australia,  dial +61 and delete the zero before the relevant phone number.


Genetic Inheritance of CL

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:-

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

u 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

 

[CL Carriers]

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Page last updated September 20, 1999. All material Copyright © 2000 Border Collie Rescue, Inc.
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