Aug 28 2008
Canine Epileptoid Cramping Syndrome (CECS)
Below is the latest research and findings into “CECS”
The Netherlands 2007
Research into cramping episodes in Border Terriers
Quirine Stassen, DVM, November 2007
As you may know already the University of Utrecht Clinic for Companion Animals (UKG) are researching the cramping episodes in Border Terriers.
This condition is characterized, among others, by episodic occurrence of cramping of the legs, neck and/or back, during which many dogs remain conscious. As the episodes occur more often in certain families it is assumed that we are dealing with a genetic condition.
Elaborate clinical examinations(physical, urine, very extensive blood panels looking for all possible causes for cramping episodes known in human and veterinary medicine and MRI-scans of the brain) did not result in finding the cause behind it.
Target of the research at UKG is to describe the condition, find the underlying genetic foundation and in the end (hopefully!!) develop a diagnostic DNA test.
By means of a DNA-test we will be able to distinguish between carriers (dogs without symptoms but carrying the genetic change) and genetically healthy animals. On this basis breeders can get advice on the use of certain combinations so as to prevent sufferers from being born. This does not mean that carriers, who possibly have other valuble genetic qualities, have to be excludud from breeding.
Thanks to the cooperation of hundreds of owners and the NBTC (Nederlandse Border Terrier Club) we have been able to collect more than 250 blood samples of Border Terriers suffering from cramping episodes (’sufferers’), their healthy relatives and healthy unrelated dogs! In addition we received more than 150 filled out questiuonnaires.
Meanwhile a genomescan (genome = one complete set of chromosomes) was performed, during which the DNA (genetic material) of sufferers was compared to that of healthy animals.
The major part of the genetic material of all dogs is identical, but in some parts so called SNIPs can be found. A SNIP (Single Nucleotide Polymorphism) is a variation in the DNA of only one nucleotide. In every animal we can find many SNIPs, spread all over the genetic material. Most of the time it doesn’t matter for the functionality of the dog which nucleotide he has got on the locatiuon of a SNIP.
If a mutation (change in the genetic material) takes place and is passed on to the progeny, the SNIPs that lie close to it will be passed on linked to this mutation. When looking for an unknown (pathogenic) mutation known SNIPs can be used to locate that mutation.
With the genomescan nearly 16.000 known SNIPs, spread out over the DNA, were defined in each blood sample. Subsequently an examination took place to see whether there might be a connection between suffering from cramping episodes and the occurrence of certain nucleotides in these SNIPs.
It may be clear that the determination of about 16.000 SNIPs will yield an enormous amount of information. For many weeks a computer was busy carrying out all the statistic calculations. During the procedure some suspect areas were found on the DNA, but, alas, no real peaks.
A possible reason for this might be that the cramping episodes are not caused by only one, but more mutations. Dit makes the search for the genetic background a lot more complex.
Besides the occurrence of the episodes may not depend on genetic factors only, but also on environmental factors.
Another problem might be the fact that our information is not always up to date. It may happen that a Border Terrier was completely healthy at the time of taking the blood sample, but that later on in life cramping episodes did occur. Therefore we will get into contact with several owners of dogs who submitted blood samples to ask if our data are still relevant.
In the near future we are going to examine the found suspect areas one by one. This will be an enormous task, but if we have new results to report, we will, of course, keep you posted.
We would like to express our gratitude once again to all Border Terrier owners who have donated their dogs’ blood samples, filled out the questionnaire or assisted in any other way !
On behalf of the research team,
Quirine Stassen
Quirine Stassen, DVM
Veterinarian internal medicine and neurology
Department of Clinical Sciences of Companion Animals
Faculty of Veterinary Medicine, University
Please note: CECS is NOT a condition confined to Border Terriers, it is seen in many breeds and types of Dogs.