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Research Update
Hyperparathyroidism and Epilepsy in the Keeshond:
One down, one to go!
Dr Barbara Skelly
Department of Veterinary Medicine, University of Cambridge
Most of you will by now be aware that there is a genetic test for hyperparathyroidism in the Keeshond. This test was developed by and is offered commercially by Dr Richard Goldstein from Cornell University. Many of you have availed yourselves of this service, and through Cambridge, the first batch of dogs were tested in the early summer. Included in the samples sent to Cornell were all of the DNA samples that I had so painstakingly collected over the years – finally we could find out which of your dogs was truly carrying the mutant gene and which were unaffected.
The results of this testing process are summarised below:
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Dog Status
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Numbers
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Positive
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35
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Negative
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144
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Duplicates
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23
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No result
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2
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Unclear
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2*
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Total
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206
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* The unclear results refer to two samples from two related dogs that showed an unusual test result – they appeared to be negative for the gene however and the significance of their abnormality is unknown.
All of the dogs that had been diagnosed with hyperparathyroidism (HPT) and had been treated for the disease were proven retrospectively to have the disease gene. This number included several dogs now deceased that had received treatment for hyperparathyroidism. There were several dogs whose disease status was unclear due to mildly elevated or fluctuating calcium levels and these dogs could be shown categorically to have the disease gene or not. Some of the positive test results are from young to middle-aged dogs that were normal at the time of testing and that did not have elevated calcium levels. These dogs were of breeding age and had no other indicators of disease. Without a genetic test, dogs such as these could be used for breeding with no hint that they may have HPT affected offspring. I would like to thank everyone who contributed samples to be tested and hope that you will all soon receive your certificates verifying your test results.
Now to epilepsy, the other outstanding problem within the breed. More samples have been gathered during the time that has elapsed since I last wrote on this subject – most notably, a large number of samples has been sent from Australia to help swell the numbers. Of the 206 samples that were sent to Cornell, some were from epileptic dogs and a further subset was from dogs known to be related to epileptic dogs. I now need to discuss with Dr Goldstein how many epileptic dogs he has gathered so that we can calculate how many we have in total. I would guess that we have enough to begin to address the problem in the same way that HPT was addressed but must emphasise that more samples are welcome and can only help in the effort to find the gene for epilepsy more quickly. If any of you have any dogs who have had fits or are still having fits then I would appreciate a blood sample and would be happy to discuss your dog with you by phone or Email.
I am now back at work 4 days a week (Monday - Friday) after my maternity leave and though still mentally adjusting to my new regime I am happy to hear from anyone who wants to contact me at Cambridge. Happy New Year!
Barbara J Skelly MA VetMB PhD CertSAM DACVIM DECVIM MRCVS
Department of Veterinary Medicine
University of Cambridge
Madingley Road
Cambridge CB3 0ES
Tel: (01223) 337621/337669/337647
Fax: (01223) 330848
e-mail: Dr. Barbara Skelly
Dr Barbara Skelly - December 2007
Page Last Updated: December 2007
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